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Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. A microdeletion encompassing exons 1–2 of RUNX1 (outside the cluster region of the Runt Homology domain and the transactivation domain) was detected in six family members using array-CGH and MLPA validation. A low platelet count was not present in all deletion carriers and, therefore, it should not be used as an indication for screening in suspected families and family members.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research

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More News: Acute Leukemia | Acute Myeloid Leukemia | Bleeding | Cancer | Cancer & Oncology | Genetics | Hematology | Leukemia | Lymphoma | Microdeletion Syndromes