title: Mutation scanning of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma: a study of 57 cases.
abstract: BACKGROUND
  Recent advances in novel targeted therapies have created the need for molecular characterization of cancer to allow accurate personalized treatments. In this study, our aim was to investigate the incidence of activating mutations of oncogenes BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma.
  
  
  METHODS
  We analyzed a cohort of 57 oral mucosal melanoma samples, including 27 frozen samples and 30 formalin-fixed paraffin-embedded samples. The tumors were screened for hotspot mutations of BRAF (exon 15), NRAS (exons 2 and 3), KIT (exons 9, 11, 13, and 17), and GNAQ/GNA11 (exon 5) by high-resolution melting and direct sequencing.
  
  
  RESULTS
  In oral mucosal melanoma, 7.0% of tumors harbored KIT mutations and 3.5% harbored BRAF mutations, while classic BRAF V600E mutation was not detected. We found no mutations of NRAS or GNAQ/GNA11 in oral mucosal melanoma.
  
  
  CONCLUSIONS
  We demonstrated that driver mutations are rare in mutational hotspots of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma. The majority of patients will not benefit from KIT and BRAF inhibitors.
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Jiong
authors.initials: J
authors.lastname: Lyu
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Yunteng
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Chaojun
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Runxiang
authors.initials: R
authors.lastname: Wang
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Song
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Guoxin
authors.initials: G
authors.lastname: Ren
authors.affiliation: Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth people's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Guo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D043802:GTP-Binding Protein alpha Subunits, Gq-G11 / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008545:Melanoma / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009061:Mouth Mucosa / Q000473:pathology; D009062:Mouth Neoplasms / Q000097:blood / Q000235:genetics*; D009154:Mutation; D057285:Precision Medicine; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: C554062:GNA11 protein, human; C554061:GNAQ protein, human; D044385:GTP-Binding Protein alpha Subunits; D008565:Membrane Proteins; D019009:Proto-Oncogene Proteins c-kit; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human; D043802:GTP-Binding Protein alpha Subunits, Gq-G11
keywords: cancer genetics; driver mutation; high-resolution melting; oral mucosal melanoma; personalized medicine