Nationwide epidemiological survey of familial myelodysplastic syndromes/acute myeloid leukemia in Japan: a multicenter retrospective study
- 6 June 2020
- journal article
- research article
- Published by Taylor & Francis Ltd in Leukemia & Lymphoma
- Vol. 61 (7), 1688-1694
- https://doi.org/10.1080/10428194.2020.1734595
Abstract
Although several pedigrees of familial myelodysplastic syndromes/acute myeloid leukemia (fMDS/AML) have been reported, the epidemiology and clinical features has been poorly understood. To explore the epidemiology of this entity, we performed a retrospective nationwide epidemiological survey in Japan using questionnaire sheets. The questionnaire was sent to 561 institutions or hospitals certified by Japanese Society of Hematology, unearthing the existence of 41 pedigrees of fMDS/AML. Among them, we obtained the clinical information of 31 patients in 20 pedigrees. The median age of the initial diagnosis was 51 years (range 9-88 years) and the WHO classification 2008 ranged from refractory anemia (RA) to AML. Focusing on the familial MDS patients, refractory anemia with excess blasts (RAEB)-2 was the largest group (27.3%). The median overall survival (OS) of fMDS and fAML in this study were 71.6 and 12.4 months, and the five-year OS were 61.3 and 50%, respectively.This publication has 33 references indexed in Scilit:
- Recognizing familial myeloid leukemia in adultsTherapeutic Advances in Hematology, 2013
- Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and MyelodysplasiaAmerican Journal of Human Genetics, 2012
- Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemiaBritish Journal of Haematology, 2012
- Clonal Architecture of Secondary Acute Myeloid LeukemiaThe New England Journal of Medicine, 2012
- Familial Aggregation of Acute Myeloid Leukemia and Myelodysplastic SyndromesJournal of Clinical Oncology, 2012
- Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaNature Genetics, 2011
- Familial myelodysplastic syndromes: a review of the literatureHaematologica, 2011
- WHO classification and WPSS predict posttransplantation outcome in patients with myelodysplastic syndrome: a study from the Gruppo Italiano Trapianto di Midollo Osseo (GITMO)Blood, 2008
- Epidemiology of aplastic anemia: a prospective multicenter studyHaematologica, 2008
- Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasiaBlood, 2006