Background: Osteosarcoma, a frequent tumour of childhood and young adults, represents the most common primary malignant bone tumour. c-KIT gene is expressed in mast cell growth factor, cellular migration, proliferation, melanoblasts, haematopoietic progenitors and germ cells. We have designed our study with aim to explore the significance of c-KIT gene mutation in osteosarcoma patients.
Materials and methods: To determine the kind of mutation analysis in exon 9, 11, 13 and 17 of c-KIT gene in 60 osteosarcoma patients. We have done polymerase chain reaction (PCR) -single-strand conformational polymorphism (SSCP) followed by DNA sequencing.
Results: In osteosarcoma cancer the c-KIT gene mutation frequency was 3.33% (02/60) in exon 9, 8.33% (5/60) in exon 11, 15.0% (9/60) in exon 13 and 5.0% (3/60) in exon 17, respectively. We have detected two silent mutations Val497Val and Ile798Ile in exon 9, 17 in five cases and three missense mutations that is Phe584Ser, Lys642Glu and Val654Ala in exon 11, 13 in fourteen cases. The overall c-KIT gene mutation frequency in exons 9, 11, 13 and 17 was determined to be 31.6% (19/60).
Conclusions: The c-KIT gene may be used as a molecular prognostic/diagnostic marker of osteosarcoma patients.