ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26

Abstract excerpt

Thrombocytopenia 2 (THC2), a non-syndromic, autosomal dominant thrombocytopenia, is caused by mutations in the ANKRD26 gene, located on chromosome 10p12. 1 Thus far, 12 heterozygous single nucleotide substitutions in the 5′-untranslated region of the ANKRD26 gene have been described in 21 families. 2 , 3 Affected patients usually present with moderate thrombocytopenia with normal platelet size and normal mean...

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