University of Bologna Medical Degree 1989
University of Bologna, Specialization School of Pediatrics Board of Pediatrics 1993
University of Paris XI Diplome of Pediatric Oncology 2000
University of Bologna II Level Master 2015
RESEARCH INTERESTS
Bone and soft tissues sarcoma (all fields)
Neuroblastoma (new drug development)
Pediatric Rare Tumors (all fields)
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Scopus Publications
Scopus Publications
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer Alessandro De Falco, Fabiola De Gregorio, Massimo Eraldo Abate, Chiara Paolella, Vincenzo Nigro, et al. American Journal of Medical Genetics Part A, 2025 You‐Hoover‐Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors. We describe two siblings with YHFS both presenting with bilateral acoustic nerve agenesis, microcephaly, and dysmorphic features. Notably, one sibling developed hepatoblastoma at the age of 7.5 years. Clinical exome sequencing revealed in both siblings compound heterozygous variants in the TELO2 gene. Although the development of hepatoblastoma might be coincidental, given the role of TELO2 in cell cycle, we suspect YHFS might be associated with an increased cancer susceptibility. Further cases are needed to confirm whether YHFS is associated with an increased risk of cancer.
Case report: A second case of cerebral cavernous malformation after high-dose chemotherapy for medulloblastoma Maria Grazia Pionelli, Federica Mazio, Maria Elena Errico, Carmela Russo, Adriana Cristofano, et al. Frontiers in Oncology, 2024 The development of cerebral cavernous malformations (CCMs) is a well-recognized sequela of irradiation to the brain in pediatric tumors, particularly in medulloblastoma, glioma, and acute lymphoblastic leukaemia. So far, only one case of cerebral cavernoma after chemotherapy with autologous hematopoietic stem cell transplantation (HSCT) has been described. We describe a case of a patient with medulloblastoma aged 18 months at the time of oncological diagnosis who was treated with high-dose chemotherapy followed by HSCT and who developed CCM two years later. The patient was not treated for vascular malformation since he remained asymptomatic until now and is regularly followed with neuro-radiological check-ups. This represents the second case of acquired cavernoma developed in a patient who has not received radiation therapy.
Rare solid tumors in a patient with Wiskott–Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature Emma Coppola, Giuliana Giardino, Massimo Abate, Francesco Paolo Tambaro, Delfina Bifano, et al. Frontiers in Immunology, 2023 Background and aimsWiskott–Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic option for patients with classic form. The risk of developing post-transplant tumors appears to be higher in patients with WAS than in other inborn errors of immunity (IEIs), but the actual incidence is not well defined, due to the scarcity of published data.MethodsHerein, we describe a 10-year-old patient diagnosed with WAS, treated with HSCT in the first year of life, who subsequently developed two rare solid tumors, kaposiform hemangioendothelioma and desmoid tumor. A review of the literature on post-HSCT tumors in WAS patients has been performed.ResultsThe patient received diagnosis of classic WAS at the age of 2 months (Zhu score = 3), confirmed by WAS gene sequencing, which detected the nonsense hemizygous c.37C>T (Arg13X) mutation. At 9 months, patient underwent HSCT from a matched unrelated donor with an adequate immune reconstitution, characterized by normal lymphocyte subpopulations and mitogen proliferation tests. Platelet count significantly increased, even though platelet count never reached reference values. A mixed chimerism was also detected, with a residual WASP− population on monocytes (27.3%). The patient developed a kaposiform hemangioendothelioma at the age of 5. A second abdominal tumor was identified, histologically classified as a desmoid tumor when he reached the age of 10 years. Both hematopoietic and solid tumors were identified in long-term WAS survivors after HSCT.ConclusionHere, we describe the case of a patient with WAS who developed two rare solid tumors after HSCT. An active surveillance program for the risk of tumors is necessary in the long-term follow-up of post-HSCT WAS patients.
Ovarian tissue cryopreservation after chemotherapy and successful pregnancy after autograft and additional chemotherapy R. Fabbri, R. Vicenti, R. Paradisi, MariaMacciocca, ValentinaMagnani, et al. European Journal of Gynaecological Oncology, 2021 Background: Ovarian tissue cryopreservation (OTC) is a valid procedure that may allow to preserve endocrine and reproductive health in girls and young women at high risk of premature ovarian failure. At disease remission, the OTC may be transplanted in the woman, allowing recovery of the production of oocytes and reproductive hormones. Case: This report describes the case of a Ewing Sarcoma/Primitive Neuroectodermal Tumor (ES/PNET) survivor who cryopreserved ovarian tissue after the first line of chemotherapy. After completion of treatment the patient experienced premature ovarian failure. Seven years later ovarian tissue autotransplantation was performed and ovarian function recovery was obtained in a few months. The woman had a shoulder ES/PNET recurrence and restarted the chemotherapy. The menstrual cycle reappeared 4 months after the second line of treatment and the patient spontaneously conceived 10 months later giving birth to a healthy girl. Conclusions: In malignancies OTC performed even after the start of chemotherapy seems to be effective in preserving fertility and allows more women to become candidates for ovarian function preservation.
