Identification of anaplastic lymphoma kinase break points and oncogenic mutation profiles in acral/mucosal melanomas
| Autor: | Qi Ming Zhou, Qi Sheng Feng, Wei Li, Yuan Xiang Guan, Fang Wang, Xiao Shi Zhang, Yi Xin Zeng, Qiong Shao, Xi Zhi Wen, Li Zhen Chen, Hai Tao Niu |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Neuroblastoma RAS viral oncogene homolog Skin Neoplasms Genotyping Techniques Carcinogenesis Dermatology Biology medicine.disease_cause Polymerase Chain Reaction Mass Spectrometry General Biochemistry Genetics and Molecular Biology Chromosome Breakpoints medicine Humans Anaplastic lymphoma kinase Anaplastic Lymphoma Kinase HRAS Melanoma neoplasms In Situ Hybridization Fluorescence Aged Gene Rearrangement Mutation Receptor Protein-Tyrosine Kinases Gene rearrangement Middle Aged medicine.disease Immunohistochemistry Virology Oncology Cancer research Female KRAS |
| Zdroj: | Pigment Cell & Melanoma Research. 26:646-653 |
| ISSN: | 1755-1471 |
| DOI: | 10.1111/pcmr.12129 |
| Popis: | Acral and mucosal melanomas, the two most common subtypes of melanoma in China, exhibit different genetic alterations and biologic behavior compared with other subtypes of melanomas. The purpose of this study was to identify the genetic alterations in patients with acral or mucosal melanomas in southern China. Fluorescence in situ hybridization (FISH), immunohistochemistry (IHC) analysis, polymerase chain reaction (PCR), and quantitative real-time reverse transcriptase PCR (qRT-PCR) were used to assess the anaplastic lymphoma kinase (ALK) break points. Furthermore, a mass spectrometry-based genotyping platform was used to analyze 30 acral melanomas and 28 mucosal melanomas to profile 238 known somatic mutations in 19 oncogenes. ALK break points were identified in four acral cases (6.9%). Eight (13.8%) cases harbored BRAF mutations, six (10.3%) had NRAS mutations, four (6.9%) had KIT mutations, two (3.5%) had EGFR mutations, two (3.5%) had KRAS mutations, two (3.5%) had MET mutations, one (1.7%) had an HRAS mutation, and one (1.7%) had a PIK3CA mutation. Two cases exhibited co-occurring mutations, and one case with a BRAF mutation had a translocation in ALK. This study represents a comprehensive and concurrent analysis of the major recurrent oncogenic mutations involved in melanoma cases from southern China. These data have implications for both clinical trial designs and therapeutic strategies. |
| Databáze: | OpenAIRE |
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