Stomatology Department, Federal University of Parana, Curitiba, Parana, Brazil.
Saliva and Liquid Biopsy Translational Research Team, School of Biomedical Sciences, Institute of Health and Biomedical Innovations, Queensland University of Technology, Brisbane, Queensland, Australia.
Cancer. 2019 Nov 15;125(22):3936-3946. doi: 10.1002/cncr.32435. Epub 2019 Aug 7.
Fanconi anemia (FA) is a rare inherited genetic condition that may lead to bone marrow failure, leukemia, and/or solid tumors. It is caused by the loss of function of at least 1 gene of the FA/BRCA pathway, which is necessary for DNA repair. Patients with FA have a 200-fold to 1000-fold risk of developing head and neck cancer, mainly oral squamous cell carcinoma (OSCC), and of doing so at a much younger age than individuals within the general population. Also, patients who have FA with OSCC have poor overall survival rates, reinforcing the necessity to detect OSCC early. The scope of the current review is to provide an update on OSCC in patients with FA.
范可尼贫血（FA）是一种罕见的遗传性疾病，可能导致骨髓衰竭、白血病和/或实体瘤。它是由 FA/BRCA 途径中至少 1 个基因的功能丧失引起的，该基因对于 DNA 修复是必需的。FA 患者发生头颈部癌症（主要是口腔鳞状细胞癌，OSCC）的风险是普通人群的 200 倍至 1000 倍，发病年龄也早得多。此外，患有 FA 合并 OSCC 的患者总体生存率较差，这进一步强调了早期检测 OSCC 的必要性。本综述的范围是提供 FA 患者中 OSCC 的最新信息。
