KIT mutation detection in Tunisian patients with newly diagnosed myelogenous leukemia: prevalence and prognostic significance

The KIT gene encodes a class III tyrosine kinase receptor in which specific somatic mutations have been found to be associated with many diseases. In this work, we investigated the prevalence of KIT mutations in patients with chronic and acute myelogenous leukemia (CML and AML) and their prognostic significance. A total of 157 subjects were included in the present study (84 patients with CML, 33 with AML, and 40 healthy controls). Patients were analyzed at the first diagnosis, and the KIT mutations were screened by polymerase chain reaction (PCR) and direct sequencing technologies. The results demonstrated the presence of a G/A transition at codon 796, which is associated with the R796K protein variation. This mutation was detected at 21.42% in the CML subgroup and was absent in both AML patients and healthy controls; however, no correlation was found between this mutation and clinical parameters such as the molecular response to Gleevec. In conclusion, we retain that the KIT gene is highly mutated in the CML subgroup, but its role as a prognostic factor needs to be further elucidated.