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.

journal_name

Platelets

journal_title

Platelets

authors

Toya T,Yoshimi A,Morioka T,Arai S,Ichikawa M,Usuki K,Kurokawa M

doi

10.3109/09537104.2013.818636

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

300-2

issue

4

eissn

0953-7104

issn

1369-1635

journal_volume

25

pub_type

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