Leukemia is designated as abnormal division of blood cells. Blood cells begin to proliferate
abnormally and fail to differentiate into normal cells. Acute myeloid leukemia is a
heterogeneous disorder characterized by abnormal proliferation and immature production of
hematopoietic stem cells. Major causes of AML might be mutations, translocations or any
chromosomal abnormality. C-kit is a proto oncogene which is related to Receptor Tyrosine
Kinase family and have a significant influence on cell proliferation, maturation and survival.
Exon 11 of c-kit gene is sequenced and analyzed to study its prognosis and role in AML among
Pakistani patients. Aim of this study are to focus on hematological (blast cells percentage,
TLCs, hemoglobin level etc.) and clinical parameters (hepatomegaly, splenomegaly, FAB
classification etc.) associated with mutation in exon 11 of c-kit gene and its prognosis.
Mutations in exon 11 of c-kit gene are studied by polymerase chain reaction (PCR) and Sanger
sequencing technique in current investigations. All sequences are studied by genius prime 2019
and statistically analyzed by Chi square Fischer’s exact test. Two out of 31 patients of AML
are observed having mutation in this exon at codon 555. Both patients have same mutation
resulted glutamic acid in place of valine. Mutations in exon 11 of c-kit gene are only found
associated with cytogenetic, statistically. However all other parameters are not significantly
associated with this exon and have p value higher than 0.05. Prognostic implications of c-kit
are still unclear. However, mutations RTK have poor influence on outcome. These findings
helped us to study prognosis of c-kit and its association with hematological and clinical
parameters among AML patients.