Characterization of a Newly Discovered Non-Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis Barbara Mora, Valentina Bellani, Daniela Pietra, Elena Tagliaferri, Daniele Cattaneo, Oscar Borsani, Alessandra Iurlo, Elisa Fermo, Paola Bianchi, Elisa Rumi, Francesco Passamonti American Journal of Hematology, 2026 Interpretation of JAK2-unmutated congenital or acquired erythrocytosis is challenging [1-8]. Hereditary erythrocytosis (HEs) includes a group of rare congenital diseases characterized by an excessive production of red cells [4, 5, 7]. HEs should be suspected in children and young adults, particularly in the case of a positive family history [4], or in older patients with a long history of otherwise unexplained erythrocytosis. HEs are often caused by high oxygen affinity hemoglobin variants (HOAV), or mutations in the oxygen-sensing pathway genes, as VHL (von Hippel–Lindau), EGLN1/PHD2 (prolyl hydroxylase domain-containing protein 2), EPAS1/HIF2A (Hypoxia-Inducible Factor 2α), and EPO (encoding for erythropoietin, EPO) [4, 5, 7, 9-11]. In other cases, mutations in genes such as BPGM (2,3-Bisphosphoglycerate Mutase) or PIEZ01 (piezo-type mechanosensitive ion channel component 1) are responsible for HEs [4, 5, 7, 12]. In these conditions, serum EPO levels are usually normal to elevated [4, 5, 7], while a low plasma EPO concentration suggests the presence of an EPOR (EPO receptor) mutation [13]. Even though the knowledge on the molecular basis of HEs is growing, many subjects without a defined genetic lesion fall into the diagnosis of idiopathic erythrocytosis [4]. Recently, Martin et al. [14] have identified three novel variants in noncoding regulatory regions of the EPO gene within six families with erythrocytosis. These heterozygous variants are in the main promoter (c.-252C>T) and in intron 1 (c.14-28T>C and c.14-26A>G) regions of the EPO gene [14]. Interestingly, subjects had serum EPO levels within the normal range [14]. This novel molecular entity comprises a newly described functionality: compared to healthy adults, circulating EPO shows a distinct pattern on isoelectric focusing (IEF), like that of premature newborns (in whom fetal liver is the main source of EPO) or to individuals with erythrocytosis related to hepatic pathologic features [14, 15]. As a consequence, it is suggested that these EPO variants could lead to an elevated expression of a hyperactive “hepatic-like” EPO with high responsiveness to hypoxia [14-16]. Here, we report six subjects belonging to two unrelated Italian families with erythrocytosis, carrying the EPO (c.14-28T>C) variant [14]. Patients consented to the study that was conducted in accordance with the principles of the Declaration of Helsinki. After excluding JAK2 mutations and considering their family history of erythrocytosis, the probands of the two families (subject IV-11 for Family 1 and II-2 for Family 2, Figure 1) were investigated with a clinical DNA exome by SureSelect CD Clinical Focused Exome (Agilent Technologies), sequenced on Illumina NextSeq 550/2000 platforms (Illumina, San Diego, USA), to study genes known to be implicated in HEs. Genes included in the analysis were: BPGM, CYB5R3, EGLN1, EGLN2, EGLN3, ENG, EPAS1, EPO, EPOR, GATA1, GFI1B, GSN, HBA1, HBA2, HBB, HIF1A, JAK2, KCNN4, KDM6A, MPL, PIEZO1, RUNX1, SLC30A10, SH2B3, SRC, TET2, THPO, WAS, VHL. Variants were called and annotated using Expert Variant Interpreter (eVai) software (enGenome), and their classification followed the criteria of the American College of Medical Genetics and Genomics (ACMG). Suspected causative EPO gene variants were confirmed in probands and later searched in available relatives by Sanger sequencing (SeqStudio Genetic Analyzer, Thermo Fisher Scientific). No additional variants in genes known to be associated with HEs have been detected in the available members of both families. Case report Family 1 (Figure 1A): in early 2025, a 38-year-old male (subject IV-11) was referred for further investigations on erythrocytosis, firstly identified in adolescence and treated since then with regular phlebotomies and antiplatelets therapy. Some members (n = 9) of his father's side of the family received phlebotomies on a regular basis and/or have erythrocytosis (Figure 1A). Main laboratory and clinical findings of the proband and relatives for which DNA samples were available (subjects III-5, III-6, III-7, IV-8, IV-9) are reported in Table 1. Clinical exome sequencing of the proband (IV-11) revealed the presence of the germline heterozygous c.14-28T>C variant located in intron 1 of the EPO gene [14]. The variant, that we previously considered variant of unknown significance (VUS)/likely benign on the basis of our in silico analysis, was reclassified as pathogenic following the report by Martin et al. [14]. This variant was also identified in the three available family members (III-6, III-7, IV-8) known to have erythrocytosis, while it was absent in subjects III-5 and IV-9, with a normal complete blood count, providing evidence that the mutation segregates with the phenotype in affected individuals (Figure 1A and Table 1). Case report Family 2 (Figure 1B): In 2010, a father and a daughter (subjects II-2 and III-2) were referred for suspected familial erythrocytosis. The proband (II-2) had been managed since 1996 with phlebotomies and antiplatelet therapy. Under this approach, he experienced two retinal vein thrombosis episodes in 2006 and 2008: at the time of those events, the patient had isolated erythrocytosis and hypertension. His daughter (III-2) was diagnosed with erythrocytosis since 2008, and she was managed since then with phlebotomies, without antiplatelet therapy. She had no prior vascular events, but her medical history included solid tumors, having previously been diagnosed with thyroid carcinoma and breast cancer. The proband reported that his brother (II-1) and his nephew (III-1) had a history of erythrocytosis, but no further details were available (Figure 1B). Main laboratory and clinical findings of the proband and his daughter (II-2 and III-2) are reported in Table 1. After the publication by Martin et al. [14] clinical exome sequencing of subject II-2 was performed on a stored DNA sample, revealing the presence of the heterozygous germline c.14-28T>C variant located in intron 1 of the EPO gene. This variant was also identified in subject III-2. DNA samples from other family members were not available for analysis. Although the advent of next-generation sequencing has provided a substantial advantage in the diagnostic approach to HEs and in the understanding of their pathogenesis, many variants remain VUS outside of specific functional assays or extensive family studies. As a result, a definitive diagnosis cannot be established in a considerable proportion of patients. This was the case for the c.14-28T>C variant, which we previously classified as likely benign or VUS with different in silico prediction tools. Conversely, Martin et al. [14] considered possible splicing defects, as the variant affects the splice branchpoint consensus, and SPiP (Splicing Pipeline Prediction) predicted a 69% likelihood of splicing impairment [14]. However, minigene and splicing reporter assays showed an effect in only around 1.5% of transcripts, weakening the hypothesis of a significant splicing impact [14]. The demonstration of a clear effect on transcriptional dysregulation [14] has made it possible to elucidate the basis of some cases of congenital erythrocytosis, unexplained to date. In this two-center experience, we were able to identify the newly discovered c.14-28T>C variant located in intron 1 [14] of the EPO gene in six subjects belonging to two unrelated Italian families presenting with erythrocytosis. Correlation between the presence of the heterozygous intron 1 variant of the EPO gene and erythrocytosis is supported by the absence of the former in two subjects of Family 1, presenting with a normal complete blood count. Martin et al. [14] suggested that the variants targeting the regulatory elements of the EPO gene could lead to a lower degree of fully terminated glycosylation and consequently to a lower stability of circulating EPO. In the original paper most of the patients had serum EPO levels within the normal range; conversely, in our series three out of six patients had low EPO. This underlines the limit of using serum EPO levels as a discriminatory parameter for investigating the possible causative gene responsible for a HE. To date, among HEs, a proven increased risk of thrombosis is known for homozygous loss-of-function VHL mutations (Chuvash erythrocytosis, CE) and for EPAS1/HIF2A gain-of-function mutations [17]. In a large cohort of patients affected by CE, phlebotomies were associated to higher rates of new thrombotic episodes, probably due to the resulting iron deficiency which leads to inhibition of PHD2, increased HIF-regulated prothrombotic factors and EPO [17]. Of note, only one of the affected subjects (Family 2, subject II-2) described in our cohort reported a history of thrombotic events while receiving antiplatelet therapy and regular phlebotomies. The remaining five patients did not experience thrombosis despite a long history of erythrocytosis and no regular treatment with phlebotomies and antiplatelets. For the time being, six families from the original report [14] and our two families having these EPO variants are available in the literature. Recognizing this new entity could inform physicians on the possible therapeutic approach to these cases and help to collect information on their thrombotic risk. In fact, the role and the timing of phlebotomies in non-polycythemia vera erythrocytosis is still not well defined [4, 18, 19]. In a retrospective study of 206 patients with secondary or idiopathic erythrocytosis, neither thrombosis nor mortality were affected by phlebotomy or persistent erythrocytosis [20] leaving the treatment goal an unmet need. Our results confirm that a more extensive analysis of the EPO gene in case of a suspected hereditary erythrocytosis will enable the establishment of a more accurate diagnosis of patients, regardless of serum EPO levels. An international effort on the identification of these families is much needed. B.M., E.R., and F.P. contributed to the conception of the work and wrote the manuscript. E.F. and P.B. were responsible for genetic analysis and detailed the methods part of the manuscript. All authors contributed to the acquisition of data, to revise the manuscript critically for important intellectual content, to approve the final version of the manuscript and are accountable for all aspects of the work in ensuring that questions related to the accuracy and integrity of any part have been investigated and resolved. This work has been supported by grants from Fondazione Alberto e Antonietta Matarelli, Milan, Italy [Omics in myelofibrosis] (B.M. and F.P.) and by Associazione Italiana per la Ricerca sul Cancro, IG 2021 ID 25703 (E.R.). This work is generated within the European Reference Network on Rare Hematological Diseases (ERN-EuroBloodNet), F.P.A. 739541. F.P., B.M., P.B., and E.F. are EuroBloodNet members. The study was consented by patients and conducted in accordance with the principles of the Declaration of Helsinki. The authors declare no conflicts of interest. The data analyzed during the current study is available by mailing the corresponding author on reasonable request.
Health Care Utilization Databases obtained from health system inform outcome for ruxolitinib treatment in patients with myelofibrosis Barbara Mora, Matteo Franchi, Ludovica Margotto, Olivia Leoni, Daniela D'ippoliti, Emanuela Carloni, Ilaria Cozzi, Enrica Santelli, Fabrizio Gemmi, Claudia Szasz, Margherita Maffioli, Carmelo Gurnari, Enrico Attardi, Daniele Cattaneo, Marta Bortolotti, Nicola Stefano Fracchiolla, Alessandra Iurlo, Giovanni Corrao, Matteo Giovanni Della Porta, Alessandro Maria Vannucchi, Maria Teresa Voso, Paola Guglielmelli, Francesco Passamonti Hemasphere, 2026 Ruxolitinib (RUX) is a JAK1/2 inhibitor widely used in patients with myelofibrosis (MF). Here, we provided real‐world data on 652 intermediate‐2 and high‐risk MF patients receiving RUX, by analyzing electronic Health Care Utilization Databases (HCUD) of all individuals that started RUX in three Italian regions (Lombardy, Lazio, and Tuscany) between October 2014 and December 2017. Over 9 years of observation, the median follow‐up of the cohort was 36.8 months. HCUD of this cohort provided relevant information, (1) contemporary rate of patients on RUX receiving stem cell transplantation: 10.9%; (2) median time to RUX discontinuation: 31.2 months (95% confidence interval [CI]: 26.4–36); (3) transfusions need in the first 6 months of RUX: no red blood cell (RBC) units in 408 (69%), 1–5 in 172 (29%), ≥6 in 14 (2%); (4) events' incidence rate (×100 person‐years) that led to hospital admission: 10.3 for infections, 5.47 for solid tumors, 3.47 for bleeding, 1.56 for thrombosis, and 5.22 for accelerated/blast phase; (5) RUX individual average cost rate in Italy: 30,675 €/year, increasing with worsening Multisource Comorbidity Score (MCS). Finally, the median survival was 48 months (95% CI: 43.2–51.6). In a multivariable Cox model, together with patient‐related factors, starting RUX doses below 20 mg every 12 h (BID) were associated with increased mortality (P from 0.007 to <0.001). We report a novel HCUD‐based approach to provide critical healthcare information in the field of MF, based on large populations of patients with documented follow‐up.
Genomic profiling for decision-making in post–polycythemia vera and post–essential thrombocythemia myelofibrosis Barbara Mora, Francesca Palandri, Paola Guglielmelli, Andrew T. Kuykendall, Margherita Maffioli, Alessandra Iurlo, Valerio De Stefano, Silvia Salmoiraghi, Timothy Devos, Federico Itri, Francisco Cervantes, Jean-Jacques Kiladjian, Matteo G. Della Porta, Francesco Albano, Jason Gotlib, Giulia Benevolo, Marianna Caramella, Marco Ruggeri, Elisa Rumi, David M. Ross, Chiara Pessina, Ilaria Colugnat, Francesco Orsini, Giorgia Micucci, Giada Rotunno, Rami S. Komrokji, Daniele Cattaneo, Patrizia Chiusolo, Marta Bortolotti, Tiziano Barbui, Daniela Cilloni, Massimo Breccia, Giuseppe A Palumbo, Filippo Branzanti, Ludovica Margotto, Matteo Franchi, Alessandro M. Vannucchi, Francesco Passamonti Blood, 2026 Secondary myelofibrosis (SMF) represents a late stage of polycythemia vera and essential thrombocythemia, with overall survival (OS) currently defined by the MYelofibrosis SECondary to PV and ET (MYSEC) Prognostic Model (MYSEC-PM). To identify additional myeloid neoplasm-associated cancer gene variants (CGVs) associated with SMF outcome, we evaluated next-generation sequencing panel testing in 644 patients within the MYSEC cohort. Overall, 429 (66.6%) subjects reported at least one CGV, with ASXL1, TET2 and DNMT3A being the most frequently involved. Specific molecular profiles affected OS (p < .001): U2AF1, TP53 or SRSF2 variants (UTS, 9.3% of cases, median OS 4.1 years) and ASXL1 without UTS (25.3%, median OS 8.4 years). By integrating these genetic signatures within the MYSEC-PM through penalized Cox regressions, we identified the following independent predictors (p from < .0001 to .02) and weighted: hemoglobin <11 g/dl (1 point), circulating blasts ⩾3% (2), platelets <150 × 109/l (2), age (0.21 points/year), ASXL1 without UTS mutations (1) and any UTS mutations (3). Finally, we developed the MYSEC-molecular prognostic model (MYSEC-mPM) allocating 582 SMF patients into four categories with different OS (p < .001): low (median OS 18.0 years, 95%CI: 14.2-not reached; score <14), intermediate-1 (8.8. years, 95%CI: 7.7-9.7; score 14-16), intermediate-2 (4.6 years, 95%CI: 3.1-7.2; score 17-18), and high risk (1.9 years, 95%CI: 1.2-2.5; score ⩾19). Additionally, in 381 SMF with available cytogenetics, the MYSEC-mPM was implemented with complex/monosomal karyotype, generating the karyotype-enhanced MYSEC-kmPM. Our study shows that genomic and cytogenetic profiling improve survival prediction in SMF, outperforming the MYSEC-PM.
The 2024 Three-Strata Baseline Anemia Definition of the Revised IWG-ELN Criteria Dissects Survival in Ruxolitinib-Treated Myelofibrosis Patients Margherita Maffioli, Barbara Mora, Alessandra Iurlo, Elena Maria Elli, Maria Chiara Finazzi, Mirko Farina, Elisa Rumi, Marianna Caramella, Maria Cristina Carraro, Mariella D'Adda, Alfredo Molteni, Elda Mimiola, Francesca Lunghi, Alessandro Vismara, Marta Ubezio, Maria Chiara Di Chio, Michela Anghilieri, Daniele Cattaneo, Matteo Giovanni Della Porta, Lorenza Bertù, Marta Coscia, Francesco Passamonti American Journal of Hematology, 2025 Baseline anemia is a known negative prognostic feature in myelofibrosis (MF), possibly contrary to ruxolitinib (RUX)-induced anemia. On the other hand, transfusion dependence (TD) has a detrimental impact that is irrespective of treatment status. The lack of consistency among definitions of TD and anemia response in MF has, however, partially hampered trial result interpretation and inter-study comparisons. In August 2024, Blood has released the Revised International Working Group-European LeukemiaNet (IWG-ELN) criteria for anemia response in MF, redefining both baseline anemia and its response to treatment. The criteria have been formulated by an international group of experts on the basis of available data in MF, adopting some myelodysplastic syndromes-specific features [1]. Inherent to their nature, not all aspects of the revised criteria, especially with respect to the number of transfusions necessary to define TD anemia (TDA) and the fine-grained characterization of anemia response, have been formally tested for their prognostic value. We thus set out to apply the updated criteria within the ambispective observational RUXOREL-MF study (NCT03959371) to establish the impact on survival of the new definition of TDA and non-TDA and, second, to assess early anemia response in RUX-treated MF patients. The RUXOREL-MF study focuses on RUX-treated MF patients within an extensive hematology network, as already described [2]. The study was approved by the Review Board of each institution and conducted in accordance with the Declaration of Helsinki. The study database comprises 288 patients regularly followed at 17 centers. In-depth information regarding the number of transfused units and corresponding dates is available, in order to correctly apply the revised IWG-ELN criteria. Given the prognostic relevance of early modifications of transfusion status under RUX [2], we decided to focus the anemia response part of the analysis on the first 6 months of treatment. Patient selection criteria for enrollment in our analysis were as previously defined [2], resulting in a cohort of 209 patients. Four patients, however, lacked baseline transfusion status and were excluded. The revised IWG-ELN criteria proposed three strata for anemia definition, and we applied them to the RUXOREL-MF cohort. A hemoglobin (Hgb) level of < 10 g/dL, irrespective of gender, is considered a suitable key inclusion criterion for clinical trials targeting anemia in MF. TDA is defined as the need for ≥ 3 units of red blood cells/12 weeks. Non-TDA includes anemic subjects who do not qualify for TDA. Responses are graded into “major” and “minor” and are separate for TDA and non-TDA. Major responses require the absence of transfusions for 12 weeks and a rolling 12-week average Hgb increase of ≥ 1.5 g/dL from pretreatment baseline. Minor responses comprise a ≥ 50% reduction in transfusions in TDA and a rolling 12-week average Hgb increase of ≥ 1.0 g/dL (but < 1.5 g/dL) from pretreatment baseline in non-TDA. Progressive anemia, on the other hand, includes a ≥ 50% increase in transfusion burden in TDA and, in non-TDA, either meeting criteria for TDA or a decrease in Hgb by > 1.5 g/dL. Patients who do not meet criteria for response or progression are termed “stable.” Mean (standard deviation) age of the 205 patients included in the current analysis was 65.2 (9.7) years and most were male (n = 130). Eighty-three (40.5%) out of 205 patients had anemia at RUX start, of whom 33 (16.1%) were TD and 50 (24.4%) were not. When considering RUX starting doses, 120 (58.5%) patients were treated per label, 75 (36.6%) at a lower dose, and 10 (4.9%) at a higher dose. We first examined the clinical relevance of the three strata of anemia definition at RUX start. We found significant differences in terms of survival among the three conditions (p = 0.0011, Figure 1A). In fact, median overall survival was 83.2 months (range, 67.2-NA) for non-anemic patients, 49.2 months (range, 40.3–NA) for those with non-TDA, and 41.3 months (range, 30.2–NA) for those with TDA. When comparing the three conditions, the hazard ratio, using the non-anemic population as a reference, was 1.6 (95% confidence interval, 95% CI, 0.9–2.9) for non-TDA and 2.8 (95% CI 1.6–5.1) for TDA. This information is critical and establishes the robustness of the revised IWG-ELN definition of TDA and non-TDA at RUX start by providing evidence to support its differential impact on patient survival in the setting of contemporary treatment with RUX. In addition, in line with the required 12-week observation period, we assessed responses in anemic patients after 3 and 6 months of RUX treatment (Figure 1B). As expected, a reduced proportion of patients qualified for a positive anemia response at the 3- and 6-month time points in both the TDA and non-TDA subgroups. Interestingly, however, approximately one fourth of TDA patients experienced a ≥ 50% reduction in transfusion burden at both time points when compared with pre-RUX transfusion requirements. Anemia progression was more frequent in non-TDA as opposed to TDA, likely because of the differences in the definition of progression within the two subgroups. To progress, non-TDA patients need to experience a > 1.5 g/dL Hgb decrease from baseline, which is relatively common under RUX, or to become TD, whereas, on the other hand, TDA patients undergo progression if their transfusion need increases quite considerably (i.e., ≥ 50%). Conversely, anemia stability is more frequent in TDA than in non-TDA patients. Logistic regression evaluating the probability of obtaining an anemia response (grouping major and minor responses) according to RUX starting doses (per label or lower) showed that lowering RUX starting doses did not seem to result in anemia improvement (3 months odds ratio, OR, 0.75, 95% CI 0.20–2.83, p = 0.68; 6 months OR 0.44, 95% CI 0.13–1.54, p = 0.20), nor did it reduce the rates of anemia progression (3 months OR 0.8, 95% CI 0.3–2.1, p = 0.67; 6 months OR 1.2, 95% CI 0.5–3.1, p = 0.65). Ten baseline anemic patients received concomitant treatments with the aim of improving anemia, among whom only one received luspatercept therapy, six received erythropoiesis-stimulating agents (ESAs), and three received danazol. One patient on ESA and one on danazol obtained a major and a minor anemia response, respectively. All other patients either had progressive anemia (the majority, i.e., seven at the 3-month time-point and six at the 6-month time-point) or anemia stability. Lastly, when examining survival probabilities, we could not detect significant differences among distinct anemia responses, likely due to the small number of responders. Given the existence of multiple prognostic determinants other than anemia, we performed the same analysis considering only the 62 anemic patients with higher prognostic scores (e.g., intermediate-2/high risk per Dynamic International Prognostic Scoring System in primary MF and per MYSEC Prognostic Model in secondary MF), and still could not dissect patient outcomes according to different anemia responses, albeit having thus further reduced patient numbers. To our knowledge, this analysis provides the first evidence of the applicability of the revised IWG-ELN criteria in the setting of RUX-treated MF patients outside of clinical trials. The characteristics of our patient population, comprised of approximately 40% and 16% anemic and TD patients at RUX start respectively, underscore the proportion of MF patients for whom harmonizing anemia outcomes is particularly relevant. The newly proposed three strata thresholds defining absence of anemia, non-TDA, and TDA capture the progressively detrimental effect of the three conditions in our contemporary cohort and are thus prognostically relevant. In line with RUX's on-target effect, anemia responses in our cohort are infrequent. We found that anemia response is not increased, nor is anemia progression reduced in patients who start with lower RUX doses with respect to those allowed per label according to their platelet count. This underlines the notion, already emerged from our RR6 and other analyses, that exceedingly low RUX starting doses are in general not beneficial for patients. Several drugs in the MF treatment scenario, some of which are still under investigation, yield significant anemia responses, albeit defined according to trial-specific criteria, either as single or add-on agents. Approximately one third of TD patients on RUX who are treated with add-on luspatercept become transfusion-independent (TI) during the entire treatment period, and one out of two reaches a 50% reduction in transfusion need [3]. Other anti-anemia drugs, given as single agents or in combination with RUX, such as elritercept, an inhibitor of select TGF-beta superfamily ligands, including activin [4], and DISC-0974, a monoclonal antibody binding hemojuvelin and blocking BMP signaling [5], are under investigation and preliminary results are available. When collectively analyzing available momelotinib trial data, the rate of TI at Week 24 ranges from 31% (JAK inhibitor-exposed, Momentum study) to 67% (JAK inhibitor-naïve, Simplify-1 study) [6]. In the Persist-2 trial, pacritinib determines a 24% rate of TI at Week 24 among non-TI patients at baseline [6]. It will therefore be of great interest to test the prognostic impact of different anemia responses, defined according to the revised IWG-ELN, in patients treated with anemia-directed strategies. M.M. and F.P. contributed to the conception and design of the work and wrote the paper. L.B. performed the statistical analysis. M.M., B.M., A.I., E.M.E., M.C.F., M.F., E.R., M.Ca., M.C.C., M.D., A.M., E.M., F.L., A.V., M.U., M.C.D.C., M.A., D.C., M.G.D.P., M.Co., and F.P. contributed data collection. B.M., A.I., E.M.E., M.C.F., M.F., E.R., M.Ca., M.C.C., M.D., A.M., E.M., F.L., A.V., M.U., M.C.D.C., M.A., D.C., M.G.D.P., and M.Co. contributed to revising the manuscript critically for important intellectual content and approved the final version of the manuscript. A.I. received speaker honoraria from Novartis, Pfizer, Incyte, BMS, Celgene. E.R. received consultancy fees from Novartis. M.Co. is an advisory board participant for Abbvie, Astrazeneca, Beigene, GSK, Johnson & Johnson; received speaker honoraria from Abbvie, Astrazeneca; received research funding from Abbvie, GSK, Johnson & Johnson, and Karyopharm Therapeutics. F.P. received speaker honoraria from Novartis, Celgene, BMS, Janssen; is an advisory board participant for Celgene, Novartis, Roche, Janssen, Abbvie, Karyopharm Therapeutics. The other authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request.
CD44 Participates to Extramedullary Haematopoiesis Onset by Mediating the Interplay Between Monocytes and Haematopoietic Stem Cells in Myelofibrosis Margherita Mirabile, Camilla Tombari, Anita Neroni, Lara Tavernari, Ruggiero Norfo, et al. Journal of Cellular and Molecular Medicine, 2025 Extramedullary haematopoiesis (EMH) refers to blood generation outside of the bone marrow (BM). In Myelofibrosis (MF), a myeloproliferative neoplasm, the disruption of BM microenvironment promotes haematopoietic stem and progenitor cells (HSPCs) mobilisation, resulting in the onset of EMH in the spleen, and then in splenomegaly. Although JAK2 inhibitors have a good efficacy in reducing splenomegaly, the presence of a significant proportion of non‐responder patients underlines the need to explore the cellular mechanisms responsible for the EMH onset. In a MF mouse model, Ruxolitinib induces a reduction in spleen volume but does not affect EMH. CD44 inhibition successfully reduces monocyte and HSPC migration in an in vitro extravasation model. Strikingly, MF monocytes are more effective in promoting HSPC migration through the production of hyaluronic acid. Collectively, our results demonstrate that CD44 regulates the migration of monocytes that are crucial for the onset of EMH in MF patients, as they produce CD44 ligands recruiting HSPCs from the BM.
Circulating Levels of PF4/CXCL4 in Patients With BCR::ABL1-Negative Myeloproliferative Neoplasms: A New Potential Prognostic Factor for Disease Progression Valentina Bellani, Daniele Cattaneo, Vittorio Abbonante, Cristina Bucelli, Simona Stella, Barbara Mora, Alessandro Malara, Umberto Gianelli, Alessandra Balduini, Alessandra Iurlo Hematological Oncology, 2025 The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1002/hon.70083. The data that support the findings of this study are available from the authors upon reasonable request. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Cytopenic overt primary myelofibrosis at presentation: Analysis of outcomes in the prospective, real-world ERNEST-2 registry Paola Guglielmelli, Arianna Ghirardi, Alessandra Carobbio, Arianna Masciulli, Lucrezia Morrone, Barbara Mora, Elisa Rumi, Ana Triguero, Maria C. Finazzi, Helna Pettersson, Valentina Boldrini, Daniele Vanni, Alessandro Rambaldi, Francesco Passamonti, Alberto Alvarez‐Larràn, Bjorn Andreasson, Alessandro M. Vannucchi, Tiziano Barbui Hemasphere, 2025 Unlike polycythemia vera (PV), essential thrombocythemia (ET), and prefibrotic primary myelofibrosis (pre-PMF), which show variable expansion of myeloid cell lineages at diagnosis, overt primary myelofibrosis (PMF) may present with uni- or multi-lineage cytosis and isolated or multiple cytopenias, the latter feature configuring a “cytopenic” phenotype (CyP).1 Among 1000 patients with PMF seen at Mayo Clinic, anemia and thrombocytopenia at diagnosis were found in 38%, including 24% requiring transfusions and 18%, respectively; those figures increased to 58%, 46%, and 28% for patients within 1 year from diagnosis.2 Furthermore, cytopenias are exacerbated by treatments, including JAK inhibitors.3, 4 Cytopenic MF is associated with a poorer prognosis compared to the “myeloproliferative” (MyP) counterpart and poses therapeutic challenges because of limited treatment options.5 In the aforementioned study, overall survival (OS) was 7.9 years for patients without anemia compared to 4.9, 3.4, and 2.1 years, respectively, for patients with mild, moderate, and severe anemia. These findings were confirmed in other retrospective studies.6 Also, isolated thrombocytopenia is prognostically adverse.7-9 Anemia, especially if transfusion dependent, and thrombocytopenia, are individually enlisted in conventional risk scores for survival prediction,10-12 including MIPSS70/v2.0 score,13-15 and are associated with increased risk of blast phase (BP).16 We report herein the analysis of data derived from the European multicenter collaborative ERNEST registry, specifically focusing on clinical characteristics and outcomes of MF patients with CyP. The ERNEST project prospectively enrolled patients with primary and secondary MF across tertiary European centers, with the aim of assuring reliability, representativeness, and comparability of real-world data. The project, promoted by the European LeukemiaNet (ELN) and coordinated by FROM (Research Foundation at Papa Giovanni XXIII Hospital in Bergamo), was supported by Novartis through a research collaboration. From February 2013 to May 2014, 1292 patients with WHO diagnosis of MF were included (ERNEST-1); for a subset of 584 overt PMF patients, enrolled in three countries (Italy, Spain, Sweden), extended follow-up data were available until the latest cutoff of December 2020 (ERNEST-2). The Institutional Review Board and Ethical Committee of each Centre approved the study, which was conducted in accordance with the Declaration of Helsinki. After the exclusion of 25 patients with incomplete data at diagnosis, a total of 559 patients constituted the current study population. A CyP was defined by the presence of at least one cytopenia at diagnosis: (i) sex-adjusted anemia (An), that is, hemoglobin (Hb) < 11 g/dL for male and <10 g/dL for female, further categorized as moderate (Hb 9–10.9 and 8–9.9 g/dL) and severe (Hb <9 and <8 g/dL, respectively); the impact of mild anemia (Hb 13–11 and 12–10 g/dL) was also preliminary analyzed; (ii) thrombocytopenia (Thr), as platelet count <100 × 109/L; (iii) leukopenia, as leukocytes <4 × 109/L. Patients showing neither of the above characteristics were considered as MyP. Descriptive statistic was used to summarize patients' characteristics. Continuous variables were summarized by median and interquartile range and categorical ones as frequencies and percentages. Differences between patient categories were tested with the χ2 test (or Fisher's exact test, where appropriate) or the rank-sum test for categorical or continuous variables, respectively. Univariate and multivariate Fine and Gray's competing risk models were fitted to estimate the association between phenotype and BP, considering death as a competing event; estimated sub-distribution Hazard Ratios (sHRs) and corresponding 95% CIs were reported. The impact of CyP on mortality was estimated by the multivariable Cox regression model; OS was estimated by the Kaplan–Meier method. The median follow-up was 5.4 years (interquartile range 2.5–9.1); patients' characteristics are presented in Table 1. Preliminary analysis on the impact of different severities of anemia revealed that mild anemia did not impact OS, therefore it was not included in the definition of CyP (Supporting Information S1: Figure 1). A CyP was identified in 275 patients (49.2%), of which 189 (68.7%) with isolated anemia, 32 (11.6%) with isolated thrombocytopenia, and 54 (19.6%) with An + Thr, accounting for 33.8%, 5.7%, and 9.7% of the entire cohort. Mild leukopenia was detected in only 10 cases (1.8%), all included in the An + Thr category, that were not considered separately. Compared to MyP, cytopenic patients were more likely to be older (p < 0.001), less frequently JAK2V617F-mutated (58.4% vs. 71.9%, p = 0.004), included in higher IPSS risk categories (int2/High: 70.8% vs. 29.3%, p < 0.001), and with fewer thrombotic events (12.4% vs. 18.3%; p = 0.051). Anemic patients tended to have higher IPSS risk scores (76.1% vs. 24.1%, p < 0.001) and less frequent splenomegaly (77.4% vs. 100%; p = 0.013) compared to isolated thrombocytopenia. While JAK2V617F-mutated patients were enriched in the anemia group, triple negative (TN) patients constituted 35.3% of the thrombocytopenia cohort compared to only 2.6% of the anemia cohort (p < 0.001); no meaningful differences as regarded systemic symptoms, history of thrombosis, and bleeding were highlighted (Table 1). A total of 392 patients (70.1%) died, 59.9% of MyP and 80.7% of CyP (p < 0.001); the incidence rate (IR) of death was 17.3% pt-y (95% CI, 15.5–19.8) and 7.8% pt-y (95% CI, 6.6–9.1) among cytopenic and myeloproliferative patients, respectively (p < 0.001). Patients with An+Thr had the highest incidence rate (IR) of death (26.8% pt-y; 95% CI, 20.0–35.9) (p = 0.003) (Supporting Information S1: Table 1). OS was significantly shorter in CyP compared to MyP patients, with a median OS of 4.0 (interquartile range [IQR]: 1.7–7.5) versus 8.4 (IQR 4.6–16.1) years (p < 0.001) (Figure 1A–C), and 10-year cumulative incidence (CuI) of death of 80.9% (95% CI, 75.7%–85.7%) and 56.6% (95% CI, 50.6%–62.8%), respectively (Supporting Information S1: Table 2). Patients with An+Thr had the worst median survival (1.7 years; IQR 0.7–4.4), with a 10-year survival of 14.1% (95% CI, 6.2–25.1). Analysis of variables predicting death by the multivariable Cox model (Supporting Information S1: Figure 2A) identified age (with an increased risk of death of 6% for each additional year; HR 1.06, 95% CI, 1.05–1.07; p < 0.001), male gender (HR: 1.63, 95% CI, 1.25–2.13; p < 0.001), peripheral blasts ≥1% (HR 2.18, 95% CI, 1.56–3.05; p < 0.001), systemic symptoms (HR: 1.34, 95% CI, 1.05–1.72; p = 0.019), and leukocytes ≥20 × 109/L (HR 1.87, 95% CI, 1.28–2.72; p < .001) as being significantly associated with shortened survival. Splenomegaly was not a significant factor for death. By using the cohort of MyP patients as the reference category, moderate anemia (HR 1.59, 95% CI, 1.19–2.15; p = 0.002), severe anemia (HR 1.82, 95% CI, 1.21–2.72; p = 0.004), thrombocytopenia (HR 2.44, 95% CI, 1.36–4.36; p = 0.003), and An+Thr (HR 3.62, 95% CI, 2.20–4.82; p < 0.001) were all significantly associated with risk of death. Seventy-five events of BP transformation occurred (13.4%); 45 (16.4%); and 30 (10.6%) among CyP and MyP patients (p < 0.0001), respectively, corresponding to an IR of 3.6% pt-y (95% CI, 2.7%–4.8%) and 1.4% pt-y (95% CI, 1.0%–2.0%) (p < 0.001), (Supporting Information S1: Table 1). Considering death as a competing event, the 10-yr CuI of BP was significantly greater for cytopenic (17.0%; 95% CI, 12.6–21.7) than MyP (10.6%; 95% CI 7.7–15.3) patients (p = 0.028) (Supporting Information S1: Table 2), particularly for An+Thr patients (27.4%; 95% CI, 16.9-41.2; p = 0.018) compared to other cytopenia categories (Figure 1D–F). Predictors of BP in a multivariable Fine & Gray competing risk model, with death as a competing event, were peripheral blasts ≥1% (HR: 3.17; 95% CI, 1.56–6.46; p = 0.001) and An+Thr phenotype (HR: 3.13; 95% CI, 1.41–6.97; p = 0.005) (Supporting Information S1: Figure 2B). The current collection of real-world patients with PMF from the ERNEST-2 registry represents the largest prospective analysis focused on cytopenic patients, and owing to the maturity of follow-up (70% of patients died within the observation period and 13% developed BP), it allowed a thorough evaluation of clinical correlates and outcomes. In line with other retrospective series, 34% and 6% of PMF patients at diagnosis had anemia and thrombocytopenia, and 10% had both; this latter category was burdened by the worst outcome, with 10 y survival of only 14% and an OS of less than 2 years; furthermore, the cumulative incidence of BP was as high as 27.4%. These data point to anemic and thrombocytopenic patients as being at exceedingly high risk of dying and evolving to BP, which should prompt decisions regarding allogeneic stem cell transplantation possibly irrespective of conventional risk scores. Another novel finding of the study was the striking association between thrombocytopenic phenotype and triple-negativity, found in 35% of the patients, which might contribute to explain the previously reported unfavorable impact of TN;17 conversely, less than 3% of anemic patients were TN. Though splenomegaly is enlisted among the diverse mechanisms contributing to anemia in PMF, we did not find meaningful differences between MyP and CyP patients as regarded to frequency and size of splenomegaly, if not for more splenomegaly patients in the thrombocytopenic category. Such findings might help to explain the lack of correlations between spleen volume reduction by ruxolitinib and/or fedratinib and improvement of anemia and thrombocytopenia, which may actually worsen in most cases representing on-target JAK2 inhibition. On the other hand, this gives support to the prevalent ACVR1 (Activin A receptor, type 1)-dependent inhibition, more than spleen volume reduction, as the mechanism underlining the favorable effects of momelotinib and pacritinib in anemic patients. Limitations of the present study include the lack of detailed information about the impact of transfusion dependence in severely anemic patients, the profile of non-driver mutations, in particular U2AF1 that was associated with anemia and/or thrombocytopenia,18, 19 and treatments used. This notwithstanding, we hope that this set of data will be useful for designing future clinical trials with molecules specifically addressing the unmet needs of cytopenic PMF patients. Open access publishing facilitated by Aziende Socio Sanitarie Territoriale Papa Giovanni XXIII, as part of the Wiley – SBBL agreement. Paola Guglielmelli and Alessandro M. Vannucchi collected data, analyzed data, and drafted the manuscript together with Arianna Ghirardi. Arianna Ghirardi, Alessandra Carobbio, and Arianna Masciulli performed statistical analysis. Lucrezia Morrone, Barbara Mora, Elisa Rumi, Ana Triguero, Maria C. Finazzi, Helna Pettersson, Valentina Boldrini, Daniele Vanni, Alessandro Rambaldi, Francesco Passamonti, Alberto Alvarez-Larràn, and Bjorn Andreasson contributed data, Tiziano Barbui was responsible for the ERNEST1-2 project and contributed to data analysis and manuscript drafting. All authors provided critical inputs and revised and approved the final draft. Paola Guglielmelli received fees for lectures and advisory boards from Novartis and GSK. Alessandro M. Vannucchi received fees for lectures and advisory boards from Novartis, GSK, AbbVie, AOP, and Italfarmaco. Barbara Mora fees for Lectures for Novartis and GSK, and Advisory Board for GSK. Francesco Passamonti received honoraria for lectures and advisory boards from Novartis, Bristol-Myers Squibb/Celgene, Sierra Oncology, AbbVie, Janssen, Roche, AOP Orphan, Karyopharm, Kyowa Kirin, and MEI. Alessandro Rambaldi received fees for consultancies and participation in meetings, boards, and symposia sponsored by Amgen, Pfizer, Novartis, Kite-Gilead, Jazz, Astellas, Abbvie, Incyte, and Omeros. Tiziano Barbui received Gsk research grant support from GSK, and fees for the advisory board of Italfarmaco, AOP, and Ionis, and for lectures from AOP. For Elisa Rumi, Alberto Alvarez-Larràn, Daniele Vanni, Arianna Masciulli, Arianna Ghirardi, Alessandra Carobbio, Lucrezia Morrone, Valentina Boldrini, AT, Maria C. Finazzi, Helna Pettersson, and Bjorn Andreasson, no relevant conflicts of interest were declared. The project, promoted by the European LeukemiaNet (ELN) was coordinated by FROM (Research Foundation at Papa Giovanni XXIII Hospital in Bergamo, Italy). The Institutional Review Board and Ethical Committee of each participating Centre approved the study, which was conducted in accordance with the Declaration of Helsinki. Patients signed an informed consent. The ERNEST registry is supported by Novartis Pharma through a research collaboration. The study was also supported by a research grant by AIRC 5×1000 called “Metastatic disease: the key unmet need in oncology” to MYNERVA project, #21267 (MYeloid NEoplasms Research Venture AIRC). A detailed description of the MYNERVA project is available at https://progettomynerva.it (A.M.V, P.G.); and Bando Ricerca Finalizzata Ministero della Salute project NET-2018-12365935 (P.G., F.P.). The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Aggregated data only are available upon reasonable request. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
CALR-mutated myeloproliferative neoplasms Valentina Bellani, Barbara Mora, Alessandra Iurlo, Francesco Passamonti Leukemia and Lymphoma, 2025 Calreticulin (CALR) is a chaperone protein that plays a crucial role in protein folding quality control and calcium homeostasis. Mutations in CALR result in a mutated protein lacking key calcium-binding sites and the KDEL sequence, leading to a constitutive activation of the MPL-JAK2-STAT5 pathway, which is involved in the pathogenesis of essential thrombocythemia (ET) and primary myelofibrosis (PMF). Despite advancements in understanding the role of CALR mutations, current therapeutic strategies remain focused on managing symptoms and complications, with allogeneic stem cell transplantation (alloHSCT) as the only curative option. Emerging research is exploring novel immunotherapeutic approaches targeting mutant CALR, including the development of anti-CALR antibodies and T-cell receptor-mediated therapies, offering potential new avenues for treatment in CALR-mutated MPNs. In this review, we will discuss on the role of CALR in MPNs, focusing on its biological structure and its implications on the prognosis and treatment of essential thrombocythemia and primary myelofibrosis.
Validity and Reliability of the Self-Care in MyeloProliferative Neoplasms Inventory (SC-MPNI) Valentina Biagioli, Alessandro Inzoli, Antonella Barone, Alessandra Iurlo, Paola Guglielmelli, Francesca Palandri, Barbara Mora, Stefana Impera, Silvia Betti, Marco Santoro, Vittorio Rosti, Giovanni Barosi European Journal of Cancer Care, 2025 ObjectiveThis study aimed to develop and psychometrically test a self‐report questionnaire for measuring self‐care behaviors in patients with myeloproliferative neoplasms (MPNs): the Self‐Care in MyeloProliferative Neoplasms Inventory (SC‐MPNI).MethodsA cross‐sectional validation study was conducted in 9 Italian hematology centers from November 2021 to January 2024. Adult patients with myelofibrosis (MF), polycythemia vera (PV), and essential thrombocythemia (ET) were asked to complete a paper‐and‐pencil questionnaire during their outpatient visit or at home. The SC‐MPNI was developed according to the Middle‐Range Theory of Self‐Care of Chronic Illness. This 30‐item questionnaire includes three scales: self‐care maintenance, self‐care monitoring, and self‐care management. The construct validity was tested using confirmatory factor analysis (CFA). The reliability of each scale was evaluated using McDonald’s Omega composite reliability.ResultsOverall, 285 patients with MPNs (53% male; mean age = 60 years ± 13) were included. They were diagnosed with MF (43%), PV (29%), or ET (28%). The self‐care maintenance scale (13 items and 3 factors: adherence, healthy lifestyle, and prevention) fit well when tested with a three‐factor model, and its reliability was 0.87. The self‐care monitoring scale (9 items and 2 factors: symptom monitoring and parameter and test monitoring) fit well when tested with a two‐factor model, and its reliability was 0.85. The self‐care management scale (8 items and 2 factors: provider‐directed behaviors and spontaneous behaviors) fit well when tested with a two‐factor model, and its reliability was 0.79.ConclusionThe SC‐MPNI is a valid and reliable self‐report instrument to measure self‐care behaviors in people living with MPNs.
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Ropeginterferon alfa-2b versus phlebotomy in low-risk patients with polycythaemia vera (Low-PV study): a multicentre, randomised phase 2 trial Tiziano Barbui, Alessandro Maria Vannucchi, Valerio De Stefano, Arianna Masciulli, Alessandra Carobbio, Alberto Ferrari, Arianna Ghirardi, Elena Rossi, Fabio Ciceri, Massimiliano Bonifacio, Alessandra Iurlo, Francesca Palandri, Giulia Benevolo, Fabrizio Pane, Alessandra Ricco, Giuseppe Carli, Marianna Caramella, Davide Rapezzi, Caterina Musolino, Sergio Siragusa, Elisa Rumi, Andrea Patriarca, Nicola Cascavilla, Barbara Mora, Emma Cacciola, Carmela Mannarelli, Giuseppe Gaetano Loscocco, Paola Guglielmelli, Silvia Betti, Francesca Lunghi, Luigi Scaffidi, Cristina Bucelli, Nicola Vianelli, Marta Bellini, Maria Chiara Finazzi, Gianni Tognoni, Alessandro Rambaldi Lancet Haematology, 2021
Stem cell mobilization after bendamustine in indolent lymphomas: a multicenter study on behalf of the Fondazione Italiana Linfomi Michele Merli, Stefano Luminari, Lucia Farina, Federica Cocito, Irene Defrancesco, Guido Gini, Annalisa Arcari, Greta Scapinello, Massimo Gentile, Maria Goldaniga, Giacomo Loseto, Emanuele Cencini, Antonino Greco, Anna Lia Molinari, Andrea Ferrario, Benedetta Bianchi, Barbara Mora, Lorenza Bertù, Vincenzo Saturni, Fabio Bergamini, Nicole Fabbri, Francesca Gaia Rossi, Silvia Bolis, Francesco Passamonti, Luca Arcaini Bone Marrow Transplantation, 2020
Impact of bone marrow fibrosis grade in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: A study of the MYSEC group Barbara Mora, Paola Guglielmelli, Elisa Rumi, Margherita Maffioli, Daniela Barraco, Alessandro Rambaldi, Marianna Caramella, Rami S. Komrokji, Jean‐Jacques Kiladjian, Jason Gotlib, Alessandra Iurlo, Francisco Cervantes, Timothy Devos, Francesca Palandri, Valerio De Stefano, Marco Ruggeri, Richard T. Silver, Francesco Albano, Giulia Benevolo, Chiara Cavalloni, Silvia Uccella, Raffaella Accetta, Claudia Siracusa, Stefania Agnoli, Michele Merli, Tiziano Barbui, Lorenza Bertù, Mario Cazzola, Alessandro M. Vannucchi, Francesco Passamonti American Journal of Hematology, 2020
Second primary malignancies in ruxolitinib-treated myelofibrosis: Real-world evidence from 219 consecutive patients Margherita Maffioli, Toni Giorgino, Barbara Mora, Alessandra Iurlo, Elena Elli, Maria Chiara Finazzi, Marianna Caramella, Elisa Rumi, Maria Cristina Carraro, Nicola Polverelli, Mariella D’Adda, Simona Malato, Marianna Rossi, Alfredo Molteni, Alessandro Vismara, Cinzia Sissa, Francesco Spina, Michela Anghilieri, Daniele Cattaneo, Rossella Renso, Marta Bellini, Maria Luisa Pioltelli, Chiara Cavalloni, Daniela Barraco, Raffaella Accetta, Lorenza Bertù, Matteo Giovanni Della Porta, Francesco Passamonti Blood Advances, 2019
Second primary malignancies in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 2233 patients Barbara Mora, Elisa Rumi, Paola Guglielmelli, Daniela Barraco, Margherita Maffioli, Alessandro Rambaldi, Marianna Caramella, Rami Komrokji, Jason Gotlib, Jean Jacques Kiladjian, Francisco Cervantes, Timothy Devos, Francesca Palandri, Valerio De Stefano, Marco Ruggeri, Richard T. Silver, Giulia Benevolo, Francesco Albano, Chiara Cavalloni, Daniela Pietra, Tiziano Barbui, Giada Rotunno, Mario Cazzola, Alessandro Maria Vannucchi, Toni Giorgino, Francesco Passamonti Cancer Medicine, 2019
Gender effect on phenotype and genotype in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis: results from the MYSEC project Daniela Barraco, Barbara Mora, Paola Guglielmelli, Elisa Rumi, Margherita Maffioli, Alessandro Rambaldi, Marianna Caramella, Rami Komrokji, Jason Gotlib, Jean Jacques Kiladjian, Francisco Cervantes, Timothy Devos, Francesca Palandri, Valerio De Stefano, Marco Ruggeri, Richard T. Silver, Giulia Benevolo, Francesco Albano, Michele Merli, Daniela Pietra, Tiziano Barbui, Giada Rotunno, Mario Cazzola, Toni Giorgino, Alessandro Maria Vannucchi, Francesco Passamonti Blood Cancer Journal, 2018
Value of cytogenetic abnormalities in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: A study of the MYSEC project Barbara Mora, Toni Giorgino, Paola Guglielmelli, Elisa Rumi, Margherita Maffioli, Alessandro Rambaldi, Marianna Caramella, Rami Komrokji, Jason Gotlib, Jean Jacques Kiladjian, Francisco Cervantes, Timothy Devos, Francesca Palandri, Valerio De Stefano, Marco Ruggeri, Richard T. Silver, Giulia Benevolo, Francesco Albano, Chiara Cavalloni, Daniela Barraco, Michele Merli, Daniela Pietra, Rosario Casalone, Tiziano Barbui, Giada Rotunno, Mario Cazzola, Alessandro Maria Vannucchi, Francesco Passamonti Haematologica, 2018
Involvement of MAF/SPP1 axis in the development of bone marrow fibrosis in PMF patients , S Ruberti, E Bianchi, P Guglielmelli, S Rontauroli, G Barbieri, L Tavernari, T Fanelli, R Norfo, V Pennucci, G Corbizi Fattori, C Mannarelli, N Bartalucci, B Mora, L Elli, M A Avanzini, C Rossi, S Salmoiraghi, R Zini, S Salati, Z Prudente, V Rosti, F Passamonti, A Rambaldi, S Ferrari, E Tagliafico, A M Vannucchi, R Manfredini Leukemia, 2018
Polycythemia vera: From new, modified diagnostic criteria to new therapeutic approaches Clinical Advances in Hematology and Oncology, 2017
Prognostication in myelofi-brosis Francesco Passamonti, Domenica Caramazza, Barbara Mora, Margherita Maffioli Novel Insights into Myelofibrosis Pathophysiology and Treatment, 2015
