恶性黑素瘤患者KIT基因突变分析

Analysis of KIT gene mutation in melanoma patients

背景与目的:KIT基因突变在恶性黑素瘤的发生、发展中发挥了重要作用。该研究旨在探讨KIT基因在各种组织学类型恶性黑素瘤患者中的突变率和类型。方法:用聚合酶链反应(polymerase chain reaction,PCR)扩增和直接测序方法检测144例恶性黑素瘤患者肿瘤组织中KIT外显子9、11、13和17的突变情况。结果:KIT基因在恶性黑素瘤患者中的总体突变率为9.0%(13/144)。在肢端型、黏膜型、慢性日光损伤型(chronic sun-induced damage,CSD)和非慢性日光损伤型(non-chronic sun-induced damage,non-CSD)恶性黑素瘤组织中,KIT基因的突变率分别为7.7%(4/52)、20.0%(7/35)、14.3%(1/7)和2.8%(1/36);13例KIT基因突变中,有1例位于第9外显子,9例位于第11外显子,3例位于第13外显子。第11外显子L576P为最常见的突变类型。结论:KIT基因突变在恶性黑素瘤患者中最常见于第11外显子,它可能是恶性黑素瘤治疗药物作用的潜在靶点。

Background and purpose： KIT mutation plays an important role during the pathogenesis of melanoma. This study was designed to investigate the mutation status of K/T in different subtypes of melanoma. Methods： A total number of 144 cases of melanoma were analyzed for K/T mutation （exon 9, 11, 13 and 17） by DNA sequencing using paraffin-embedded tissues. Results： The total incidence of K/T mutation in melanoma was 9.0% （13/144）. K/T mutations in acral melanoma, mucosal melanoma, melanoma on skin with chronic sun-induced damage （CSD） and melanoma on skin without chronic sun-induced damage （non-CSD） was 7.7% （4/52）, 20% （7/35）, 14.3% （1/7） and 2.8% （1/36）, respectively. Among 13 cases with K/T mutation, 1 mutation lay in exon 9, 9 lay in exon 11 and 3 in exon 13. L576P in exon 11 was the most common type of mutation. Conclusion： The most prevalent type of K/T mutation in patients lies in exon 11. K/T mutation could be the potential drug target in melanoma therapy.