• S Wang, Q Zhang, H Wu, Z Yang, X Guo, F Wang, Z Yu, and Z Zhong.
• Center for Digestive Diseases, Meizhou People's Hospital (Huangtang Hospital); Center for Precision Medicine; Guangdong Provincial Key Laboratory of Precision Medicine, Clinical and Translational Research in Hakka Population, Meizhou People's Hospital, No. 63 Huangtang Road, Meijiang District, Meizhou, PR China.
• Niger J Clin Pract. 2021 Jun 1; 24 (6): 814-820.

AimsThe aim of the present study was to investigate mutation status of the cKit and PDGFRA genes in patients with a gastrointestinal stromal tumor (GIST).MethodsIn total, 96 patients with a GIST were included in the study, in which polymerase chain reaction amplification and gene sequencing were used to detect the sequences of exons 9, 11, 12, 13, 14, 17, and 18 in KIT and exons 12, 14, and 18 in PDGFRA.ResultsKIT mutations were detected in 65 cases (67.71%), of which 81.54% (53/65) were located on exon 11, 12.31% (8/65) were located on exon 9, 4.61% (3/65) were located on exon 17, which included a concomitant mutation of exon 9 and 11, and 4.08% (2/65) were located on exon 13, which included a concomitant mutation on exon 11. The most common mutation in exon 11 was deletion, which accounted for 77.36% (41/53) of the cases, followed by a point mutation observed in 22.64% (12/53) of the cases. Among the 31 GIST cases without a KIT mutation, a mutation in PDGFRA was detected in 5 cases (5.21%, 5/96; 16.13%, 5/31). With respect to gender, age, tumor max diameter, tumor position, and mitotic index, there were no significant differences between KIT/PDGFRA mutations and non-mutations.ConclusionsGIST mainly occurs in the stomach, and the cytological morphology is mainly spindle cells, and the mutations mainly occur in KIT genes. We need a large sample size to analyze the regularity of GIST gene mutations in Hakka population and understand the independent prognostic correlation of all KIT/PDGFRA genotypes.

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