Genomic and epigenetic characterization for the comparison of synchronous bilateral tongue squamous cell carcinomas - a case report

Publication date: Available online 4 October 2017
Source:Current Problems in Cancer
Author(s): Ilda P. Ribeiro, Leonor Barroso, Francisco Marques, André Santos, Francisco Caramelo, Maria J. Julião, Joana B. Melo, Isabel M. Carreira
IntroductionThe tongue is the most common and aggressive site for tumors in the oral cavity. These tumors are usually located in the lateral border of the tongue and are often related to the use of tobacco and alcohol. Clinical management of these tumors is predominantly based on anatomic location and TNM classification. The identification of molecular signatures with ability to explain the different outcomes observed in these patients is of paramount importance to guide and help their management.Case PresentationWe herein describe an 88-year-old woman diagnosed with synchronous bilateral tongue carcinoma. This woman did not present the traditional risk factors related to oral cancer - alcohol, tobacco or presence of human papiloma virus (HPV). Both tumors were classified by a pathologist as pT2. This patient was submitted to surgery, six months later was diagnosed with cervical metastasis and in the following two months died. Copy number alterations and methylation status of these two simultaneous tumors were analyzed using array Comparative Genomic Hybridization, Multiplex Ligation-dependent Probe Amplification (MLPA) and Methylation Specific MLPA.Discussion and ConclusionIn both tumors we identified several molecular traits usually found among oral cavity tumors and some of those have been associated with clinical outcome, reinforcing their importance to accurately establish biomarkers with clinical applicability. Specific genomic and epigenetic signatures for each of these two tumors were also observed allowing their molecular discrimination. The tumor of the right side of the tongue exhibited more copy number gains than the tumor of the left side. In the left side tumor less and smaller copy number alterations and more methylated genes were observed, which could be indicative of an early phase of tumor development. This case shows the molecular heterogeneity of oral cavity tumors even in the same patient and anatomic site, which could be the key to explain the different outcomes of oral tumor patients.



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