Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000‑354 Coimbra, Portugal.
Center of Investigation on Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, 3000‑354 Coimbra, Portugal.
Mol Med Rep. 2017 Nov;16(5):6780-6786. doi: 10.3892/mmr.2017.7428. Epub 2017 Sep 5.
Oral leukoplakia and erythroleukoplakia are common oral potentially malignant disorders diagnosed in the oral cavity. The specific outcome of these lesions remains to be elucidated, as their malignant transformation rate exhibits great variation. The ability to predict which of those potentially malignant lesions are likely to progress to cancer would be vital to guide their future clinical management. The present study reported two patients with tongue squamous cell carcinoma: Case study 1 was diagnosed with a simultaneous leukoplakia and case study 2 developed an erythroleukoplakia following the primary tumor treatment. Whole genome copy number alterations were analyzed using array comparative genomic hybridization. The present study determined more genomic imbalances in the tissues from leukoplakia and erythroleukoplakia compared with their respective tumors. The present study also identified in tumor and potentially malignant lesions common alterations of chromosomal regions and genes, including FBXL5, UGT2B15, UGT2B28, KANSL1, GSTT1 and DUSP22, being some of these typical aberrations described in oral cancer and others are linked to chemoradioresistance. Several putative genes associated with hallmarks of malignancy that may have an important role in predicting the progression of leukoplakia and erythroleukoplakia to squamous cell carcinoma, namely gains in BNIPL, MCL1, STAG2, CSPP1 and ZNRF3 genes were also identified.
口腔白斑病和红斑病是常见的口腔潜在恶性疾病,在口腔中诊断出来。这些病变的具体结果仍有待阐明,因为它们的恶性转化率变化很大。能够预测哪些潜在的恶性病变可能发展为癌症,对于指导其未来的临床管理至关重要。本研究报告了两名舌鳞状细胞癌患者:病例研究 1 被诊断为同时患有白斑病,病例研究 2 在原发性肿瘤治疗后发展为红斑病。使用阵列比较基因组杂交技术分析全基因组拷贝数改变。本研究确定了与各自肿瘤相比,白斑病和红斑病组织中存在更多的基因组失衡。本研究还在肿瘤和潜在的恶性病变中鉴定了常见的染色体区域和基因改变,包括 FBXL5、UGT2B15、UGT2B28、KANSL1、GSTT1 和 DUSP22,其中一些典型的异常改变在口腔癌中描述过,而其他改变与化疗和放疗耐药性有关。还鉴定了几个与恶性特征相关的假定基因,这些基因可能在预测白斑病和红斑病向鳞状细胞癌进展方面具有重要作用,即 BNIPL、MCL1、STAG2、CSPP1 和 ZNRF3 基因的获得。