Clinical significance of c-KIT mutations in Children with Acute Myeloid Leukemia: An Indian Study

Author(s): Preethi G. Nath, Priyakumari T, Jagathnath Krishna K. M., Krishnachandran R. and Hariharan S.*

Abstract: Background: c-KIT is a receptor tyrosine kinase (RTK) which has a pivotal role in regulation of hematopoiesis. Even though c-KIT mutations have prognostic significance in adult Acute Myeloid Leukemia (AML) patients, role of c-KIT mutations in the prognostic prediction of pediatric AML patients still remains abstruse. Aims: The present study, aims to understand clinical significance of c-KIT mutations in pediatric AML patients. Methods: In the study we performed mutational analysis of c-KIT gene (exon 8, exon 17) in 61 pediatric de novo AML patients with median age of 9 years. Mutation Analysis of c-KIT was performed in all cases by Polymerase Chain Reaction and Single Strand conformation Polymorphism followed by Sequencing. Results and Conclusions: Mutations were observed in 9.8% of the cases and among the study group exon 8 mutations prevailed. Statistical analysis showed that c-KIT mutations were associated with haemoglobin level at diagnosis (exon 8 mutations) (P=0.03) and age at diagnosis (exon 17 mutations) (P=0.02). Overall survival and event free survival of the patients were not associated with c-KIT mutation status (P˃0.05). Even though c-KIT mutations lacks prognostic significance, high frequency of this mutation among children with AML makes it a candidate for targeted therapies by RTK inhibitors.

PAGES: 930-937  |  49 VIEWS  206 DOWNLOADS