Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

摘要: The myelodysplastic syndromes (MDS) are heterogeneous and can evolve into acute myeloid leukaemia (AML). Rare familial cases reported in which five disease genes have been identified to date (RUNX1, CEBPA, TERC, TERT GATA2). Here we report the genetic categorization of 27 families with MDS/AML. All these were screened for RUNX1, GATA2 as well TET2 NPM1. Five had telomerase mutations; one a RUNX1 mutation, while none found TET2, CEBPA or NPM1 mutations. We four heterozygous mutations, each associated different phenotype. While mutations is novel, three previously reported: has described dendritic cell, monocyte, B NK lymphoid (DCML) deficiency family that series primary lymphoedema predisposition AML (Emberger syndrome). In summary, characterization was shown 10 (four GATA2, TERT, two RUNX1) families; however 17 remain uncharacterized, highlighting marked heterogeneity MDS/AML scope further functional pathways could give rise this group disorders.