Detection of C-kit gene Mutation in Patients with Acute Myeloid Leukemia

Document Type : New and original researches in the field of Microbiology.

Authors

Clinical Pathology and Medical Oncology Departments, Faculty of Medicine, Zagazig University, Egypt

Abstract

Background: Acute Myelogenous Leukemia (AML) is a malignant disease of haematopoietic stem cells. C-kit is a Tyrosine Kinase Receptor class III (RTK) which is expressed on early hematopoietic progenitor cells and shares in hematopoietic stem cell proliferation, differentiation and survival. c-kit is a proto-oncogene, so activating c-kit mutations may contribute in the pathogenesis of leukemia in humans. Exon 11 of c-Kit gene is the frequent site for mutations in different kinds of tumors. Objectives: We aim to screen the mutation status of exon 11 of c-kit gene and further evaluation of these mutations as a prognostic marker in AML cases. Methodology: To determine the frequency of exon 11 mutations in 60 de novo AML cases, we have done polymerase chain reaction followed by direct DNA sequencing. Results: The c-kit mutations in exon 11 were detected in (14/60) 23.3% in AML cases. Two different missense mutations were detected. Those included Pro121Gln and another mutation, Pro171His. There was significant decrease in the rate of achievement of complete remission (CR) in the mutated group compared to the wild group (P=0.02). In addition, the one year survival (OS) was less in the mutated group compared to the wild group (P=0.02). Conclusion: Mutations in exon 11 of the c-kit gene can be involved in pathogenesis and is a useful predictive genetic marker in AML.

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