ANKRD26-related thrombocytopenia and myeloid malignancies.

NORIS P; FAVIER R; ALESSI MC; GEDDIS A; KUNISHIMA S; HELLER PG; GIORDANO P; NIEDERHOFFER K; BUSSEL J; PODDA G; VIANELLI N; KERSSERBOOM R; PECCI A; GNAN C; MARCONI C; AUVRIGNON A; COHEN W; YU G; IUCHI A; MILLER IMAHIYEROBO A; BOEHLEN F; GHALLOUSSI D; DE ROCCO D; MAGINI P; CIVASCHI E; BIINO G; SERI M; SAVOIA A; BALDUINI C

BLOOD, THE JOURNAL OF THE AMERICAN SOCIETY OF HEMATOLOGY - ONLINE

American Society of Hematology

Año: 2013 vol. 122 p. 1987 - 1989

1528-0020

After recent disclosure that mutations in the 5?UTR of ANKRD26 are responsible for an autosomal dominant form of thrombocytopenia, 78 affected subjects from 21 families have been reported. Analysis of this first series of patients suggested that ANKRD26-related thrombocytopenia (ANKRD26-RT) is characterized by normal platelet size, moderate thrombocytopenia, and absent or mild bleeding tendency. This study also found that the number of hematological malignancies in affected families was higher than expected, but the little number of investigated subjects precluded any firm conclusion. To gain further information on this disorder, we collected and analyzed 75 new patients from 23 families in 7 different countries worldwide, bringing to 153 the number of known patients and making this inherited thrombocytopenia one of the forms with the highest number of patients reported in the literature. Analysis of the new series of patients confirmed that ANKRD26-RT is an insidious disorder because it has a mild bleeding phenotype but exposes to the risk of myeloid malignancies. Conversely, analysis of 250 patients with acute myeloid leukemias, either de novo or secondary to myelodysplastic syndromes, revealed that somatic mutations in the 5?UTR of ANKRD26 were never involved in the pathogenesis of these disorders.