Adorno-Farias Daniela, Morales-Pisón Sebastián, Gischkow-Rucatti Guilherme, Margarit Sonia, Fernández-Ramires Ricardo
Chilean Hereditary Cancer Group (GCCH), Santiago, Chile.
University of Chile, School of Dentistry, Oral Medicine and Pathology Department, Santiago, Chile.
Genet Mol Biol. 2024 Aug 5;47Suppl 1(Suppl 1):e20240036. doi: 10.1590/1678-4685-GMB-2024-0036. eCollection 2024.
Oral squamous cell carcinoma (OSCC) has a poor prognosis and the treatment employed generates significant physical deformity in patients. In recent years, an increase in the incidence of cases of OSCC has been observed in adult patients up to 45 years old in several genetic underrepresented and underserved countries. The increase in OSCC cases in young people is very relevant because it shows that OSCC does not make exceptions and hereditarily must play an important role. This fact has not been associated with an evident biological basis, and a large majority of these patients do not present the classic principal risk factors association. OSCC is the result of accumulation of genetic and epigenetic alterations and this information is still fragmented in the literature, mainly in the young group. Conducting studies with a comprehensive analysis of genetic and epigenetic data is crucial, to provide greater understanding of the underlying biology of OSCC, because this information can be decisive to determine targets for therapeutic treatment. We review the main germline and somatic aspects of genetic and genomic variation in OSCC considering the absence of genomic data from developing countries such as Chile and the rest of Hispano-America.
口腔鳞状细胞癌(OSCC)预后较差,所采用的治疗方法会给患者造成严重的身体畸形。近年来,在一些基因代表性不足且医疗服务欠缺的国家,45岁及以下成年患者的OSCC发病率有所上升。年轻人中OSCC病例的增加非常值得关注,因为这表明OSCC并无例外情况,遗传因素必定起着重要作用。这一事实尚未与明确的生物学基础相关联,并且这些患者中的绝大多数并未呈现出典型的主要风险因素关联。OSCC是基因和表观遗传改变积累的结果,而这方面的信息在文献中仍然零散,主要是在年轻人群体中。开展对基因和表观遗传数据进行全面分析的研究至关重要,以便更深入地了解OSCC的潜在生物学特性,因为这些信息对于确定治疗靶点可能具有决定性意义。鉴于缺乏来自智利和其他西班牙语美洲国家等发展中国家的基因组数据,我们回顾了OSCC中基因和基因组变异的主要种系和体细胞方面的情况。