ANKRD26-related thrombocytopenia and myeloid malignancies.

摘要

Since the discovery that mutations in the 5' untranslated region (UTR) of ANKRD26 are responsible for an autosomal-dominant form of thrombocytopenia (ANKRD26-RT), 21 affected families were reported.2 A study analyzing this series of patients suggested that ANKRD26-KT is characterized by normal platelet size, moderate thrombocytopenia, and absent or mild bleeding tendency. The study also found that the number of hematologic malignancies in affected families was higher than expected, but the relatively small cohort of patients precluded firm conclusions.To gain further information on this matter, we screened for mutations in the 5' UTR of ANKRD26 215 subjects with an inherited thrombocytopenia of unknown origin and found 11 mutations (3 not previously described) in 23 cases (Table I).