• Journal of Animal Science and Technology
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• v.48 no.1
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• pp.1-8
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• 2006

KIT encodes a mast/stem cell growth factor receptor and is known as a possible candidate gene responsible for dominant white coat color in mammals. To investigate the genetic variation of KIT gene in Korean wild boars(Sus scrofa coreanus), we carried out PCR-RFLP and DNA sequencing for three exons(exons 17, 19, and 20) and intron 19 of the KIT gene in Korean wild boars. PCR-RFLP results using NlaⅢ restriction enzyme in the breakpoint region between exon 17 and intron 17 and AciⅠ restriction enzyme in exon 19 indicate that Korean wild boars did not have previously identified white coat color related splicing mutation and missense mutation, respectively. These results also indicate matings between Korean wild boars could not give white coat color offsprings. We also found new SNPs in exons 19(C2661T) and 20(A2760G). Of these, the SNP in exon 20 is a missense mutation which might induce the change of amino acid iso-leucine to valine. However, no relationship was identified with this missense mutation and coat color. In this study, breed specific new SNPs were identified in exons 19, 20 and intron 19 and these results will give important information for genetic variation of porcine KIT gene.

• Korean Journal of Head & Neck Oncology
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• v.19 no.2
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• pp.121-126
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• 2003

Objectives: The c-kit gene encodes a transmembrane receptor-type tyrosine kinase, which is known to have a significant role in the normal migration and development of germ cells and melanocytes. In the previous studies of c-kit gene, c-kit expressions showed only in adenoid cystic carcinomas, lymphoepithelioma-like carcinomas and myoepithelial carcinomas, but not in others and mutation was not found in any types of salivary carcinoma. We investigate the c-kit expression which may be useful to differentiating adenoid cystic carcinomas from others, and mutation of the gene which may not be exist nor the mechanism of c-kit activation in salivary carcinomas. Material and Methods: The archival tissue samples from 42 salivary carcinomas of major and minor salivary glands were studied for c-kit expression by immunohistochemistry and gene mutation by polymerase chain reaction amplification and single strand conformational polymorphism. Results: The c-kit expressions were noted in 22/24 adenoid cystic carcinomas, 7/9 mucoepidermoid carcinomas, 2/3 acinic cell carcinomas, 3/4 malignant mixed tumors, and one undifferentiated carcinoma. The mutation of c-kit gene was found in 3/24 adenoid cystic carcinomas, 3/8 mucoepidermoid carcinomas, one acinic cell carcinoma, and 2/4 malignant mixed tumors. Conclusion: c-kit protein overexpression is seen in a variety of salivary gland carcinomas, and the mutation of the gene may be the mechanism of c-kit activation in these neoplasms.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.1
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• pp.15-20
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• 2013

Urinary bladder squamous cell carcinoma (SCC), one of the most common neoplasms in Egypt, is attributed to chronic urinary infection with Schistosoma haematobium (Schistosomiasis). The proto-oncogene c-KIT, encoding a tyrosine kinase receptor and implicated in the development of a number of human malignancies, has not been studied so far in schistosomal urinary bladder SCCs. We therefore determined immunohistochemical (IHC) expression of c-KIT in paraffin sections from 120 radical cystectomies of SCCs originally obtained from the Pathology Department of Suez Canal University (Ismailia, Egypt). Each slide was evaluated for staining intensity where the staining extent of >10% of cells was considered positive. c-KIT overexpression was detected in 78.3% (94/120) of the patients, the staining extents in the tumor cells were 11-50% and >50% in 40 (42.6%) and 54 (57.4%) respectively. The positive cases had 14.9%, 63.8%, 21.3% as weak, moderate and strong intensity respectively. Patients with positive bilharzial ova had significantly higher c-KIT expression than patients without (95.2% vs. 38.9%, P=0.000). Mutation analysis of exons 9-13 was negative in thirty KIT positive cases. The high rate of positivity in SBSCC was one of the striking findings; However, CD117 may be a potential target for site specific immunotherapy to improve the outcome of this tumor.

• Korean Journal of Head & Neck Oncology
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• v.19 no.2
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• pp.158-163
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• 2003

Objectives: To document the incidence and pattern of c-kit protein expression & mutation in adenoid cystic carcinomas. Materials and Methods: Twenty-five cases of adenoid cystic carcinomas of the major and minor salivary glands and the upper and lower respiratory tract were subjected to the immunohistochemical study for ckit(CD117 ; Dako). Nineteen cases of them were analyzed for mutations in exon 11 and exon 17 by PCR-SSCP, and in cases of need, by DNA sequencing. Results: Twenty-three cases (92%) showed c-kit expression, but none showed mutations in exon 11 and exon 17. The expression was restricted to the inner luminal cells in all tubular types and most of cribriform adenoid cystic carcinomas, while the staining was diffuse in all solid variants and two cribriform types. Conclusion: C-kit expression was common in adenoid cystic carcinomas, regardless of their origins. Although genetic bases await further studies, a clinical trial of tyrosine kinase inhibitors in adenoid cystic carcinomas, especially in solid variants, is considered encouraging.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7449-7452
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• 2015

Objective: Endometrial cancer is the fourth most common cancer among women in developed countries. Affected patients may benefit from systemic chemotherapy, alone or in combination with targeted therapies if the disease is clinically diagnosed prior to expansion and metastasis to other organs. The aim of this study was to evaluate the prognostic role of c-kit mutations and comparision with tumor type and grade in human uterine endometrial carcinomas. Materials and Methods: Seventy five patients with endometrial carcinoma and seventy five normal controls were studied for possible mutations in exon 17 of the c-kit gene using single strand conformational polymorphisms and sequencing. Results: c-kit mutation in exon 17 appeared to be significantly different between endometrial carcinoma and normal endometrium. The pattern and frequency of the mutations was also shown to be different between tumors from different stages.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.6
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• pp.2733-2737
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• 2014

Objective: Molecular pathology tests are often carried for clinicopathological diagnosis and pathologists have established large collections of formalin-fixed, paraffin-embedded tissue (FFPE) banks. However, extraction of DNA from FFPE is a laborious and challenging for researchers in clinical laboratories. The aim of this study was to compare two widely used DNA extraction methods: using a QIAamp DNA FFPE kit from Qiagen and a Cobas Sample Preparation Kit from Roche, and evaluated the effect of the DNA quality on molecular diagnostics. Methods: DNA from FFPE non-small cell lung carcinoma tissues including biopsy and surgical specimens was extracted with both QIAamp DNA FFPE and Cobas Sample Preparation Kits and EGFR mutations of non-small cell lung carcinomas were detected by real-time quantitative PCR using the extracted DNA. Results and Conclusion: Our results showed that DNA extracted by QIAamp and Cobas methods were both suitable to detect downstream EGFR mutation in surgical specimens. Howover, Cobas method could yield more DNA from biopsy specimens, and gain much better EGFR mutation results.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.41-46
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• 2008

Purpose : Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retadation-1(FMR1) gene. Combination of Southern blotting and simple polymerase chain reaction(PCR) amplification of the FMR1 repeat region is commonly used for diagnosis in females. To give a definite diagnosis in a female child suspected of having FXS, we carried out the molecular diagnostic test for FXS using the recently developed Abbott Molecular Fragile X PCR Kit. Methods : The PCR amplification of the FMR1 repeat region was performed using the Abbott Mdecular Fragile X PCR Kit. The amplified products were analyzed by size-separate analysis on 1.5% agarose gels and by DNA fragment analysis using Gene scan. Results : Agarose gel and Gene scan analyses of PCR products of the FMR1 repeat region showed that the patient had two heterozygous alleles with a normal 30 repeats and full mutation of >200 repeats whereas her mother had two heterozygous alleles with the normal 30 repeats and premutation of 108 repeats, suggesting that the premutation of 108 repeats in her mother may have led to the full mutation of >200 repeats in the patient. Conclusion : We diagnosed FXS in a female patient using a simplified molecular diagnostic test. This commercially available diagnostic test for FXS, based on PCR, may be a suitable alternative or complement method to Southern blot analysis and PCR analysis and/or methylation specific(MS)-PCR analysis for the molecular diagnosis of FXS in both males and females.

• Proceedings of the PSK Conference
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• 2005.04a
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• pp.104-105
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• 2005

• Journal of Gastric Cancer
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• v.6 no.3
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• pp.146-153
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• 2006

Purpose: Gastrointestinal stromal tumorsm (GISTs) are the most common mesenchymal tumors that arise anywhere in the tubular GI tract. The prognosis for GSTIs is important because f GISTs may metastasiwx in the liver or the abdominal cavity in an early stage. For the reason we examined the tumor size, the mitotic number, ki 67, p53, and c-kit mutation as independent prognostic factor for GISTs. Materials and Methods: A retrospective study was conducted in 76 patients who had been re-evaluated for confirmation of diagnosis between Jan 1998 and Dec. 2001. at Catholic University of medicine. Results: There were significant difference between the turner size, mitotic indices, ki 67, c-kit mutations and the 5-years survival rates. Tumor size (${\geq}5\;cm$) and mitotic index (${\geq}5/50\;HPF$) were statistically related to a significantly poor prognosis (P=0.017 and P=0.042, respectively). c-kit mutations in exon 11 were found in 7 cases c-kit mutation was observed more frequently in high risk patients, and there was a significant difference between c-kit mutation and survival (P=0.037). Elevated ki 67 was noted in 34 out of the 76 cases. High risk patients showed elevated ki67 index more frequently and there was significant relation with the survival rate (P=0.0417). Conclusion: We think that tumor size, mitotic index, Ki 67 and c-kit mutation are as independent prognostic factors for GISTs, but more research is needed.

• Journal of Gastric Cancer
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• v.20 no.1
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• pp.29-40
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• 2020

Purpose: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors. In this study, a targeted next-generation sequencing (NGS) assay with an Oncomine Focus Assay (OFA) panel was used for the genetic characterization of molecular targets in 30 Korean patients with GIST. Materials and Methods: Using the OFA that enables rapid and simultaneous detection of hotspots, single nucleotide variants (SNVs), insertion and deletions (Indels), copy number variants (CNVs), and gene fusions across 52 genes relevant to solid tumors, targeted NGS was performed using genomic DNA extracted from formalin-fixed and paraffin-embedded samples of 30 GISTs. Results: Forty-three hotspot/other likely pathogenic variants (33 SNVs, 8 Indels, and 2 amplifications) in 16 genes were identified in 26 of the 30 GISTs. KIT variants were most frequent (44%, 19/43), followed by 6 variants in PIK3CA, 3 in PDGFRA, 2 each in JAK1 and EGFR, and 1 each in AKT1, ALK, CCND1, CTNNB1, FGFR3, FGFR4, GNA11, GNAQ, JAK3, MET, and SMO. Based on the mutation types, majority of the variants carried missense mutations (60%, 26/43), followed by 8 frameshifts, 6 nonsense, 1 stop-loss, and 2 amplifications. Conclusions: Our study confirmed the advantage of using targeted NGS with a cancer gene panel to efficiently identify mutations associated with GISTs. These findings may provide a molecular genetic basis for developing new drugs targeting these gene mutations for GIST therapy.