Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation
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...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2014-07-01
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| Series: | Онкогематология |
| Subjects: | |
| Online Access: | https://oncohematology.abvpress.ru/ongm/article/view/77 |
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| Summary: | 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. |
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| ISSN: | 1818-8346 2413-4023 |