{"title":"口腔鳞状细胞癌患者的生殖系变异：系统综述。","authors":"Mateus José Dutra, Lauren Frenzel Schuch, Felippe José Almeida Loureiro, Felipe Martins Silveira, Marcio Ajudarte Lopes, Manoela Domingues Martins, Wilfredo Alejandro González Arriagada, Daniela Adorno Farias, Ricardo Fernández-Ramires, Vivian Petersen Wagner","doi":"10.1111/odi.70040","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Integrate studies on germline variations (GV) in patients with oral squamous cell carcinoma (OSCC), aiming to assess the highest frequencies of which genes were altered in patients with this diagnosis.</p><p><strong>Methods: </strong>An electronic search was conducted in four databases and in the gray literature, following the PRISMA 2020 recommendations. Case reports, case series, case-control studies, cross-sectional studies, prospective cohort studies, and retrospective cohort studies reporting GV in patients with OSCC were included for data extraction.</p><p><strong>Results: </strong>Twenty articles were included, covering 146 cases of OSCC. Patients had a mean age of 47.5 years; the majority were male, non-drinkers, and non-smokers. For most cases, p16 staining and human papilloma virus (HPV) status were not investigated/reported. A total of 231 different GV genes were identified in the 146 patients, with the most frequently altered being ND5 (6.1%), CYTB (4.8%), COX1 (4.6%), PDE4DIP (4.1%), ND1 (3.9%), ND4 (3.2%), ND2 (2.7%), ATP6 (2.7%), CDKN2A (2.6%), COX2 (2.4%), COX3 (2.2%), and ND3 and ND6, both accounting for 2% each.</p><p><strong>Conclusion: </strong>This review compiles important data on the most frequent GV in patients with OSCC, enabling new understandings of oral carcinogenesis, as well as future directions for prognosis and treatment.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Germline Variations in Patients With Oral Squamous Cell Carcinoma-Systematic Review.\",\"authors\":\"Mateus José Dutra, Lauren Frenzel Schuch, Felippe José Almeida Loureiro, Felipe Martins Silveira, Marcio Ajudarte Lopes, Manoela Domingues Martins, Wilfredo Alejandro González Arriagada, Daniela Adorno Farias, Ricardo Fernández-Ramires, Vivian Petersen Wagner\",\"doi\":\"10.1111/odi.70040\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Integrate studies on germline variations (GV) in patients with oral squamous cell carcinoma (OSCC), aiming to assess the highest frequencies of which genes were altered in patients with this diagnosis.</p><p><strong>Methods: </strong>An electronic search was conducted in four databases and in the gray literature, following the PRISMA 2020 recommendations. Case reports, case series, case-control studies, cross-sectional studies, prospective cohort studies, and retrospective cohort studies reporting GV in patients with OSCC were included for data extraction.</p><p><strong>Results: </strong>Twenty articles were included, covering 146 cases of OSCC. Patients had a mean age of 47.5 years; the majority were male, non-drinkers, and non-smokers. For most cases, p16 staining and human papilloma virus (HPV) status were not investigated/reported. A total of 231 different GV genes were identified in the 146 patients, with the most frequently altered being ND5 (6.1%), CYTB (4.8%), COX1 (4.6%), PDE4DIP (4.1%), ND1 (3.9%), ND4 (3.2%), ND2 (2.7%), ATP6 (2.7%), CDKN2A (2.6%), COX2 (2.4%), COX3 (2.2%), and ND3 and ND6, both accounting for 2% each.</p><p><strong>Conclusion: </strong>This review compiles important data on the most frequent GV in patients with OSCC, enabling new understandings of oral carcinogenesis, as well as future directions for prognosis and treatment.</p>\",\"PeriodicalId\":19615,\"journal\":{\"name\":\"Oral diseases\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-07-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oral diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/odi.70040\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oral diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/odi.70040","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Germline Variations in Patients With Oral Squamous Cell Carcinoma-Systematic Review.
Objective: Integrate studies on germline variations (GV) in patients with oral squamous cell carcinoma (OSCC), aiming to assess the highest frequencies of which genes were altered in patients with this diagnosis.
Methods: An electronic search was conducted in four databases and in the gray literature, following the PRISMA 2020 recommendations. Case reports, case series, case-control studies, cross-sectional studies, prospective cohort studies, and retrospective cohort studies reporting GV in patients with OSCC were included for data extraction.
Results: Twenty articles were included, covering 146 cases of OSCC. Patients had a mean age of 47.5 years; the majority were male, non-drinkers, and non-smokers. For most cases, p16 staining and human papilloma virus (HPV) status were not investigated/reported. A total of 231 different GV genes were identified in the 146 patients, with the most frequently altered being ND5 (6.1%), CYTB (4.8%), COX1 (4.6%), PDE4DIP (4.1%), ND1 (3.9%), ND4 (3.2%), ND2 (2.7%), ATP6 (2.7%), CDKN2A (2.6%), COX2 (2.4%), COX3 (2.2%), and ND3 and ND6, both accounting for 2% each.
Conclusion: This review compiles important data on the most frequent GV in patients with OSCC, enabling new understandings of oral carcinogenesis, as well as future directions for prognosis and treatment.
期刊介绍：
Oral Diseases is a multidisciplinary and international journal with a focus on head and neck disorders, edited by leaders in the field, Professor Giovanni Lodi (Editor-in-Chief, Milan, Italy), Professor Stefano Petti (Deputy Editor, Rome, Italy) and Associate Professor Gulshan Sunavala-Dossabhoy (Deputy Editor, Shreveport, LA, USA). The journal is pre-eminent in oral medicine. Oral Diseases specifically strives to link often-isolated areas of dentistry and medicine through broad-based scholarship that includes well-designed and controlled clinical research, analytical epidemiology, and the translation of basic science in pre-clinical studies. The journal typically publishes articles relevant to many related medical specialties including especially dermatology, gastroenterology, hematology, immunology, infectious diseases, neuropsychiatry, oncology and otolaryngology. The essential requirement is that all submitted research is hypothesis-driven, with significant positive and negative results both welcomed. Equal publication emphasis is placed on etiology, pathogenesis, diagnosis, prevention and treatment.
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