Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation
https://doi.org/10.17650/1818-8346-2011-6-4-6-11
Abstract
Familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML) is a rare autosomal dominant disorder caused by inherited mutation of RUNX1. To date only 35 families have been described. We report on a family in which number and function of platelet were impaired in members of 4 generations. Acute myeloid leukemia developed in 3 members of 2 generations. The age of leukemia development was 11, 19 и 76 years. In all 5 affected family members available for study novel heterozygous mutation in runt domain of RUNX1 (c2018 A > C, pT147P) was detected by direct sequencing. This mutation is predicted to impair binding of CBF to core motif of DNA. Two affected patients died of leukemia; while in one complete remission was achieved with conventional and consolidated with allogeneic BMT from HLA-matched sister proved to be RUNX1 mutation negative.
About the Authors
V. O. Bobrynina
Federal Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
O. Yu. Baranova
N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
E. V. Samochatova1,
Federal Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
A. A. Maschan
Federal Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
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Review
For citations:
Bobrynina V.O., Baranova O.Yu., Samochatova1, E.V., Maschan A.A. Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation. Oncohematology. 2011;6(4):6-11. (In Russ.) https://doi.org/10.17650/1818-8346-2011-6-4-6-11
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