These include thrombocytopenia with associated myeloid malignancies caused by germ line mutations in RUNX1,ANKRD26 and ETV6;GATA2-associated syndromes (Emberger syndrome; MonoMAC syndrome; immunodeficiency); familial MDS and acute myeloid leukemia caused by mutations in CEBPA, DDX41 andSRP72; and TBD due to mutations in TERT or TERC.2 Although the majority of patients with classic IBMFS are diagnosed in childhood, some patients have no or only subtle extra hematopoietic manifestations and may present in adulthood with MDS or AL.2, 5. The gene discussed is ETV6; the disease is Thrombocytopenia.