Analysis Of C-KIT And BRAF Gene Mutation In Mucosal Melanomas

Objective:Grasp the clinical features of mucosal melanoma in this region,and discuss the relationship between c-KIT and BRAF gene mutations and mucosal melanoma.Analyzed the correlation between gene mutations and clinical features of mucosal melanomas. Methods:Collected40paraffin-embedded tissues of mucosal melanomas and20normal skin tissues diagnosed in Xinjiang autonomous region people’s hospital from January2006toJune2013.Using PCR and DNA direct sequencing method to detect the mutation of c-KIT gene (exon11and exon13) and BRAF gene (exon11and exonl5).of40mucosal melanomas and20normal skin tissues. The relationship between gene mutation and clinical features was analyzed by Χ1test or Fisher’s exact test according to the SPSS17.0software.Statistical significance was considered when P<0.05. Results:In40mucosal melanomas,18cases are males and22ones are females.Patients over60years old accounted for25cases and the rate is62.5%(25/40);17cases occurs in the head and neck mucosa (nine cases in the nasal,6cases in oral mucosa),14cases in anorectal, five cases in vulvar vaginal,three cases in urethral and one occur in esophageal mucosa.20cases are Han,16cases are Uygur,2cases are Hui and2cases are Kazakh.16cases with lymph node metastasis and24cases without lymph node metastasis.This study found five cases of mucosal melanomas with c-KIT gene mutation and the mutation rate is12.5%(5/40).The mutation types are L576P and W557R,and L576Pisthe mainly type. The difference has no statistically significant between different gender,age,ethnicity of mucosal melanomas with c-KIT gene mutation(P>0.05). Lymph node metastasis in patients with c-KIT gene mutation rate was28.6%, and no lymph node metastasis in patients with c-KIT gene mutation rate was3.85%, the difference was statistically significant (P<0.05).Two patients occur BRAF gene mutation and the mutation rate is5%(2/40). The mutation types are V600E.The BRAF mutation in different gender,ages,ethnic and lymph node metastasis was no significant difference. Conclusion:Mucosal melanomas are more common in patients over60years old.The incidence of head and neck mucosal melanomas were dominated;c-KIT and BRAF gene are hot spot mutation,but mutation rate is higher in c-KIT gene than in BRAF gene.c-KIT gene mutation is a poor prognostic factor in mucosal melanomas.