Germline CSF3R, RUNX1 and ETV6 Pathogenic Variants in a Case of Atypical Chronic Myeloid Leukemia: Individual to Familial Unravelling by Next Generation Sequencing

Myelodysplastic syndrome/Myeloproliferative neoplasm (MDS/MPN) overlap syndromes are recently identified entities that have been quite difficult to define due to overlapping morphological features and absence of a specific molecular abnormality. With the advent of Next -generation sequencing (NGS), discovery of new pathogenic variants has led to identification of clonal pathology in many of such cases. Here, we describe a case of atypical chronic myeloid leukemia with germ line predisposition where identical pathogenic variations were demonstrated in CSF3R, RUNX1 and ETV6 both in peripheral blood and buccal swab by NGS. Such knowledge has an utmost implication for the presence of coexisting platelet dysfunction, solid organ malignancies, treatment with related hematopoietic stem cell transplant and family screening.