Analysis of<em>KIT</em>gene mutation in melanoma patients

吕矫洁; 孔蕴毅; 蔡　旭

doi:10.3969/j.issn.1007-3969.2016.05.008

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Analysis ofKITgene mutation in melanoma patients

更新时间：2025-12-31

- Analysis ofKITgene mutation in melanoma patients
- China Oncology Vol. 26, Issue 5, Pages: 399-403(2016)
- 作者机构：
  
  复旦大学附属肿瘤医院病理科，复旦大学上海医学院肿瘤学系,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.3969/j.issn.1007-3969.2016.05.008
  CLC：
- Published Online：23 June 2016，
  
  Published：23 June 2016
- 稿件说明：
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吕矫洁,孔蕴毅,蔡　旭,等. 恶性黑素瘤患者

吕矫洁, 孔蕴毅, 蔡　旭. Analysis ofKITgene mutation in melanoma patients[J]. China Oncology, 2016, 26(5): 399-403.
吕矫洁,孔蕴毅,蔡　旭,等. 恶性黑素瘤患者 DOI： 10.3969/j.issn.1007-3969.2016.05.008.

吕矫洁, 孔蕴毅, 蔡　旭. Analysis ofKITgene mutation in melanoma patients[J]. China Oncology, 2016, 26(5): 399-403. DOI： 10.3969/j.issn.1007-3969.2016.05.008.

摘要

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。

Abstract

Background and purpose: KIT mutation plays an important role during the pathogenesis of melanoma. This study was designed to investigate the mutation status of KIT in different subtypes of melanoma. Methods: A total number of 144 cases of melanoma were analyzed for KIT mutation (exon 9

13 and 17) by DNA sequencing using paraffin-embedded tissues. Results: The total incidence of KIT mutation in melanoma was 9.0% (13/144). KIT 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 KIT 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 KIT mutation in patients lies in exon 11. KIT mutation could be the potential drug target in melanoma therapy.

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Analysis ofKITgene mutation in melanoma patients

DOI：10.3969/j.issn.1007-3969.2016.05.008

摘要

Abstract

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