Exploring Genotype Phenotype correlation in Chronic Myelomonocytic Leukemia and related MDS/MPN overlap syndromes

Abstract

Chronic myelomonocytic leukemia (CMML) is a sporadic neoplasm of myelogenous origin. CMML shows a wide range of heterogeneity in terms of genetic risk factors and clinical disease presentation. It shares several features with peripheral monocytosis and bone marrow dysplasia. The patients are at high risk of transformation to (AML). Several genetic overlaps have been characterized between CMML, myelodysplastic syndromes (MDS), (MPN) and mastocytosis. KIT encodes a receptor tyrosine kinase. This receptor plays an imperative role in the maintenance of the stem cells, gametogenesis, melanogenesis and hematopoiesis. It is also crucial to proper development, function and migration of mast cells. To investigate the genetic mutations associated with CMML, MDS/MPN and mastocytosis. We also aimed to identify the overlaps. We searched PubMed for articles that have been published with key terms KIT, CMML, MDS, MPN and mastocytosis. The human studies that have looked into KIT gene mutations in subjects with these disorders were enlisted only and explored for the genetic associations