Mutational analysis of IDH1 gene in acute myeloid leukemia
Introduction/Background/Significance: Isocitrate dehydrogenase (IDH) mutations are considered as key metabolic enzymes that lead to the production of the oncometabolite 2-hydroxyglutarate, which promotes leukemogenesis through a block in normal myeloid differentiation. Approximately 8% of acute myeloid leukemia (AML) harbors a mutation in IDH1, which serves as an important prognostic marker as well as a potential therapeutic target.
However, very little is known about the frequency of IDH1 mutation in LMIC.
Materials and Methods/Case Presentation/Objective: This study was carried out to assess the prevalence of IDH1 in newly diagnosed de novo AML and its clinical significance.
A retrospective study was carried out in the Hospital University of Sfax, south of Tunisia, including newly diagnosed AML patients. Mutations in IDH1 (IDH1R132 ; IDH1 G105) were assessed by Sanger sequencing.
Results/Description/Main Outcome Measures: Thirty-nine newly diagnosed AML patients were enrolled. The sex ratio M/F was 0.7. The median age was 43 years (5-57 years).
Point mutations in IDH1 were detected in 7 cases (18%). Certain associations between the gene mutation and clinical characteristics were found, including the IDH1-mutated group's male preponderance and higher age of presentation.
Conclusions: Our data on the Tunisian population highlights that the IDH1 mutation is frequent than that reported from Western countries. A comprehensive analysis of the landscape of other mutations in a larger study needs to be done to corroborate these findings.
