Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology)
| Autor: | Angelica Barone, Fabio Corsolini, Daniela Onofrillo, Riccardo Haupt, Anna Locasciulli, Carmen Addari, Elena Mastrodicasa, Gabriella Casazza, Silvia Caruso, Daniela Longoni, Chiara Cugno, Carla Cerri, Enrico Cappelli, Ugo Ramenghi, Simone Cesaro, Johanna Svahn, Piero Farruggia, Francesca Riccardi, Federico Verzegnassi, Carlo Dufour, Marta Pillon, Anna Savoia, Nicoletta Marra, Francesca Bagnasco, Daniela De Rocco |
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| Přispěvatelé: | Svahn, Johanna, Bagnasco, Francesca, Cappelli, Enrico, Onofrillo, Daniela, Caruso, Silvia, Corsolini, Fabio, DE ROCCO, Daniela, Savoia, Anna, Longoni, Daniela, Pillon, Marta, Marra, Nicoletta, Ramenghi, Ugo, Farruggia, Piero, Locasciulli, Anna, Addari, Carmen, Cerri, Carla, Mastrodicasa, Elena, Casazza, Gabriella, Verzegnassi, Federico, Riccardi, Francesca, Haupt, Riccardo, Barone, Angelica, Cesaro, Simone, Cugno, Chiara, Dufour, Carlo |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Pancytopenia phenotype medicine.medical_treatment Decision Making Fanconi anemia pediatric phenotype Hematopoietic stem cell transplantation Somatic evolution in cancer Young Adult 03 medical and health sciences 0302 clinical medicine Fanconi anemia hemic and lymphatic diseases Internal medicine medicine Humans Child Cytopenia Hematology business.industry Histocompatibility Testing Siblings Hematopoietic Stem Cell Transplantation Infant Newborn Infant medicine.disease Hematology Fanconi anemia Tissue Donors FANCA Treatment Outcome pediatric Italy Child Preschool 030220 oncology & carcinogenesis Cohort Immunology Female business 030215 immunology |
| Popis: | We analyzed 97 Fanconi anemia patients from a clinic/biological database for genotype, somatic, and hematologic phenotype, adverse hematological events, solid tumors, and treatment. Seventy-two patients belonged to complementation group A. Eighty percent of patients presented with mild/moderate somatic phenotype and most with cytopenia. No correlation was seen between somatic/hematologic phenotype and number of missense mutations of FANCA alleles. Over follow-up, 33% of patients improved or maintained mild/moderate cytopenia or normal blood count, whereas remaining worsened cytopenia. Eleven patients developed a hematological adverse event (MDS, AML, pathological cytogenetics) and three developed solid tumors. 10 years cumulative risk of death of the whole cohort was 25.6% with median follow-up 5.8 years. In patients eligible to hematopoietic stem cell transplantation because of moderate cytopenia, mortality was significantly higher in subjects transplanted from matched unrelated donor over nontransplanted subjects, whereas there was no significant difference between matched sibling donor transplants and nontransplanted patients. In patients eligible to transplant because of severe cytopenia and clonal disease, mortality risk was not significantly different in transplanted from matched unrelated versus matched sibling donor versus nontransplanted subjects. The decision to transplant should rely on various elements including, type of donor, HLA matching, patient comorbidities, impairment, and clonal evolution of hematopoiesis. Am. J. Hematol. 91:666-671, 2016. © 2016 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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