PDF(Pubmed)
Abstract：
In 2020, Fanconi anemia (FA) was classified as a syndrome with insufficient epidemiological evidence in the oral potentially malignant disorder (OPMD) group by the WHO Collaborating Centre. The paucity of case reports on FA-associated OPMD limits evidence-based management, and such cases have not been analyzed collectively in detail. Hence, the objective of this short communication is to summarize the evidence on the onset and progression of OPMD in FA patients, so as to better understand the natural history of oral cancer development in patients affected by FA. A total of 11 eligible papers containing 1332 FA patients are involved in onset and progression of OPMD in FA patients. Of these, 186 (14.0%) were diagnosed with OPMD. With available data from 4 follow-up studies, 30 (41.1%) of 73 FA patients compatible with OPMD further developed into OSCC at young age (10-30 years old). The evidence on FA with malignant potential comprise clinical epidemiology, oral cytology abnormalities, DNA aneuploidy, loss of autofluorescence, loss of heterozygosity, high-risk human papillomavirus infection, DNA mutations in saliva and plasma samples. Collectively, these can consummate the evidence on FA as a syndrome that may potentiate cancer development in oral cavity mentioned by the WHO. Importantly, it highlights close surveillance is instrumental for FA patients with OPMD to early detect oral cancer.
摘要：
2020年，世卫组织合作中心将范可尼贫血（FA）列为口腔潜在恶性疾病（OPMD）组中流行病学证据不足的综合征。缺乏与FA相关的OPMD的病例报告限制了基于证据的管理，这种情况没有被集体详细分析。因此，本简短沟通的目的是总结FA患者OPMD发作和进展的证据，以便更好地了解受FA影响的患者口腔癌发展的自然史。共有11篇合格论文，包含1332名FA患者，涉及FA患者中OPMD的发作和进展。其中,186例（14.0%）被诊断为OPMD。根据4项后续研究的可用数据，73例与OPMD相容的FA患者中有30例（41.1％）在年轻时（10-30岁）进一步发展为OSCC。关于具有恶性潜能的FA的证据包括临床流行病学，口腔细胞学异常，DNA非整倍性,自发荧光的损失，杂合性丢失，高危型人乳头瘤病毒感染,唾液和血浆样品中的DNA突变。总的来说，这些可以完善世界卫生组织提到的FA作为一种可能促进口腔癌发展的综合征的证据。重要的是,它强调密切监测有助于OPMD的FA患者早期发现口腔癌.
