title: Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia.
abstract: Abstract Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) is an autosomal dominant disorder characterized by mild to moderate thrombocytopenia with or without its impaired function, inherited RUNX1 mutation and high incidence of myeloid malignancy, such as myelodysplastic syndrome or acute myeloid leukemia. A 72-year-old male visited our institute because of gradually progressive pancytopenia and splenomegaly, and was diagnosed as having hairy cell leukemia. He was administered one course of intravenous cladribine (0.12 mg/kg, day 1-5) and achieved hematological complete response. Mutation analyses of RUNX1 gene were underwent because familial history of hematological malignancies evoked a possibility of FPD/AML. As a result, RUNX1 L445P mutation was identified in the peripheral blood and the mutation was considered as germ-line mutation because the same mutation was detected in the buccal mucosa. BRAF V600E mutation was also identified in the peripheral blood but not in the buccal mucosa. To our knowledge, this is the first report of B cell malignancy arising from FPD/AML.
authors: Department of Hematology & Oncology, Graduate School of Medicine, The University of Tokyo , Tokyo , Japan and.
authors: Takashi
authors: T
authors: Toya
authors: Akihide
authors: A
authors: Yoshimi
authors: Takehiko
authors: T
authors: Morioka
authors: Shunya
authors: S
authors: Arai
authors: Motoshi
authors: M
authors: Ichikawa
authors: Kensuke
authors: K
authors: Usuki
authors: Mineo
authors: M
authors: Kurokawa
mesh_terms: D000368:Aged; D001706:Biopsy; D001791:Blood Platelet Disorders / Q000150:complications* / Q000175:diagnosis; D001853:Bone Marrow / Q000473:pathology; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D004252:DNA Mutational Analysis; D004198:Disease Susceptibility; D018095:Germ-Line Mutation; D006720:Homozygote; D006801:Humans; D007943:Leukemia, Hairy Cell / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D010375:Pedigree; D013163:Splenomegaly / Q000175:diagnosis; D014057:Tomography, X-Ray Computed
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit