Kavitha L, Ranganathan K
Department of Oral and Maxillofacial Pathology, Ragas Dental Colege and Hospital (Affiliated to The Tamil Nadu Dr. M.G.R. Medical University), ECR, Uthandi, Chennai, Tamil Nadu, 600 119, India.
Head Neck Pathol. 2025 Apr 25;19(1):49. doi: 10.1007/s12105-025-01787-x.
This scoping review was conducted to ascertain the loss of heterozygosity (LOH) signatures reported in Oral Potentially Malignant Disorders (OPMD) and Oral Squamous Cell Carcinoma (OSCC), in the literature in the last fifty years.
The Joanna Briggs Institute recommendations (2023) for scoping review were used to extract, analyze, and present the results. The review was reported according to the PRISMA guidelines for Scoping Reviews (PRISMA-ScR). The most commonly reported genes associated with LOH in OPMD and OSCC are discussed. The Gene Ontology functional enrichment analysis gives the significance of the protein-protein interactions (PPI) of these genes using the STRING database.
An exhaustive database search of the title, abstract, and full-text screening consistent with the eligibility criteria yielded 277 studies. LOH commonly studied in OPMD and OSCC include p53 gene, p16 gene, adenomatous polyposis coli gene, retinoblastoma (Rb) gene, fragile histidine triad (FHIT) gene and phosphatase and tensin homolog (PTEN) gene. Chromosome loci involving 17p, 9p, 5q, 13q, 3p, and 10q were frequently reported in OPMD and OSCC. PPI analysis demonstrated strong evidence of p53 interaction with p16, FHIT, and Rb.
Distinctive signatures of LOH are seen in OPMD and OSCC. The LOH patterns identified in this scoping review underline the significance of advanced molecular techniques and the need for long-term prospective cohorts to understand LOH pathophysiology in oral carcinogenesis to enable their usefulness as biomarkers in early diagnosis, treatment, and prognostication of oral cancer.
本综述旨在确定过去五十年来文献中报道的口腔潜在恶性疾病（OPMD）和口腔鳞状细胞癌（OSCC）中的杂合性缺失（LOH）特征。
采用乔安娜·布里格斯研究所2023年的综述推荐方法来提取、分析和呈现结果。本综述依据PRISMA综述指南（PRISMA-ScR）进行报告。讨论了OPMD和OSCC中最常报道的与LOH相关的基因。基因本体功能富集分析使用STRING数据库给出了这些基因的蛋白质-蛋白质相互作用（PPI）的意义。
对标题、摘要和全文进行详尽的数据库搜索，筛选出符合纳入标准的277项研究。OPMD和OSCC中常见研究的LOH包括p53基因、p16基因、腺瘤性息肉病基因、视网膜母细胞瘤（Rb）基因、脆性组氨酸三联体（FHIT）基因和磷酸酶及张力蛋白同源物（PTEN）基因。OPMD和OSCC中经常报道涉及17p、9p、5q、13q、3p和10q的染色体位点。PPI分析显示了p53与p16、FHIT和Rb相互作用的有力证据。
在OPMD和OSCC中可见独特的LOH特征。本综述确定的LOH模式强调了先进分子技术的重要性，以及需要长期前瞻性队列研究来了解口腔癌发生过程中LOH的病理生理学，以便其在口腔癌的早期诊断、治疗和预后中作为生物标志物发挥作用。
