GATA2 gene analysis in several forms of hematological malignancies including familial aggregations

In this study, we extended our investigation to a potential candidateGATA2 gene which was analyzed by direct sequencing in 119 cases including familial aggregations with a variety of hematological malignancies and sporadic acute leukemia belonging to Tunisian and French populations. We reported a deleteriousp.Arg396Gln GATA2 mutation in one patient diagnosed with both sporadic acute myeloid leukemia (AML) and breast cancer. We also reported severalGATA2 variations in familial cases. The absence of deleterious mutations in this large cohort of familial aggregations of hematological malignancies may strengthen the hypothesis thatGATA2 mutations are an important predisposing factor, although as a secondary genetic event, required for the development of overt malignant disease.
Source: Annals of Hematology - Category: Hematology Source Type: research