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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| Format: | Article |
| Language: | Russian |
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ABV-press
2014-07-01
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| Series: | Онкогематология |
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| Online Access: | https://oncohematology.abvpress.ru/ongm/article/view/77 |
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| _version_ | 1849409230782595072 |
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| author | V. O. Bobrynina O. Yu. Baranova E. V. Samochatova1, A. A. Maschan |
| author_facet | V. O. Bobrynina O. Yu. Baranova E. V. Samochatova1, A. A. Maschan |
| author_sort | V. O. Bobrynina |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b709feac727a40d69b4f2047e03600cf |
| institution | Kabale University |
| issn | 1818-8346 2413-4023 |
| language | Russian |
| publishDate | 2014-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Онкогематология |
| spelling | doaj-art-b709feac727a40d69b4f2047e03600cf2025-08-20T03:35:33ZrusABV-pressОнкогематология1818-83462413-40232014-07-016461110.17650/1818-8346-2011-6-4-6-1192Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutationV. O. Bobrynina0O. Yu. Baranova1E. V. Samochatova1,2A. A. Maschan3Federal Research Center of Pediatric Hematology, Oncology and ImmunologyN.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical SciencesFederal Research Center of Pediatric Hematology, Oncology and ImmunologyFederal Research Center of Pediatric Hematology, Oncology and ImmunologyFamilial 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.https://oncohematology.abvpress.ru/ongm/article/view/77family thrombocytopenia/thrombocytopathiaacute myeloid leukemiarunx1 |
| spellingShingle | V. O. Bobrynina O. Yu. Baranova E. V. Samochatova1, A. A. Maschan Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation Онкогематология family thrombocytopenia/thrombocytopathia acute myeloid leukemia runx1 |
| title | Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation |
| title_full | Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation |
| title_fullStr | Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation |
| title_full_unstemmed | Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation |
| title_short | Family platelet disorder with propensity to acute myeloid leukemia: new family with RUNX1 mutation |
| title_sort | family platelet disorder with propensity to acute myeloid leukemia new family with runx1 mutation |
| topic | family thrombocytopenia/thrombocytopathia acute myeloid leukemia runx1 |
| url | https://oncohematology.abvpress.ru/ongm/article/view/77 |
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