Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor

摘要: The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by first tumor, and overall survival is lower when compared with patients a single tumor. Identifying biomarkers that predict risk relapse response to an emerging clinical issue. A Caucasian 49-years-old man was treated chemotherapy followed chemoradiotherapy left side tongue achieving complete response. After 49-months follow-up, local recurrence diagnosed. 3 months, tumor at pharyngoesophageal region detected. Genomic epigenetic characterization these three performed using array Comparative Hybridization, Multiplex Ligation-dependent Probe Amplification (MLPA) Methylation Specific MLPA. this patient shared several imbalances all chromosomes excluding 9, 20 22, where genes related important functional mechanisms tumorigenesis are mapped. genomic imbalances, such losses 1p, 2p, 3p, 4q, 5q, 6q, 7q, 8p, 10p, 11q, 12p, 12q, 13q, 15q, 16p, 16q, 17p, 17q, 18q, 19p, 19q, 21q Xp gains 3q, 14q 15q showed common clonal origin diagnosed relapses. We identified some chromosomal mapped 2, 3, 4, 6, 7, 11, 14, 17, 18 22 putative linked chemoradioresistance chemoradiosensitivity. also observed short arm 8 were acquired after VHL gene promoter methylation WT1 GATA5 genes, predictors relapses we candidate prognosis, could guide development management strategies patients.