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Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India


avatar SR Hussain 1 , avatar Seyed Tasleem Raza 1 , * , avatar SG Babu 2 , avatar P Singh 3 , avatar H Naqvi 1 , avatar F Mahdi 1

1 Dept. of Biochemistry, Era’s Lucknow Medical College and Hospital, Lucknow, India

2 Dept. of Biotechnology, Babasaheb Bhimrao Ambedkar University, Lucknow, India

3 Dept. of Pathology, Christian Medical College, Vellore, India

How to Cite: Hussain S, Raza S T, Babu S, Singh P, Naqvi H, et al. Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India. Int J Cancer Manag. 2012;5(1):e80795.


International Journal of Cancer Management: 5 (1); e80795
Published Online: March 31, 2012
Article Type: Research Article
Received: July 06, 2011
Accepted: September 21, 2011


Background: Acute Myeloid Leukaemia (AML) is a cancer of blood-forming cells in bone marrow. C-kit gene is a Receptor Tyrosine Kinase class III (RTK) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. It is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely to contribute in the development of leukaemia in humans. Exon 11 of c-Kit gene is the frequent site for mutations in different kinds of tumours.
Methods: In order to determine the frequency and prevalence of exon 11 mutations in 51 AML cases, we have done polymerase chain reaction-single-strand conformational polymorphism followed by direct DNA sequencing.
Results: The c-kit mutations in exon 11 were detected in 15.68% (8/51) in AML cases. We have detected totally ten missense mutations in eight AML cases those include Lys550Asn, Tyr568Ser, Ile571Leu, Tyr578Pro, Trp582Ser and Arg588Met and novel missense mutations at codons Ile563Lys and Val569Leu. Mutations at codons Ile571Leu and Trp582Ser was found in two independent cases.
Conclusion: The presence of c-kit mutations in our study adds to investigative spectrum of AML cases. Since the c-kit mutations are seen in other malignancies, mutations in exon 11 of the c-kit gene might be involve in pathogenesis and represent useful predictive genetic marker in AML. Further studies in larger group of cases possibly will be required to determine the prognostic implications and to investigate how these mutations are co-related to the progression and pathogenesis of AML.


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