Abstract
ObjectivesThe transcription factor SOX2 (3q26.3-q27) is an embryonic stem cell factor contributing to the induction of pluripotency in terminally differentiated somatic cells. Recently, amplification of the SOX2 gene locus has been described in squamous cell carcinoma (SCC) of different organ sites. Aim of this study was to investigate amplification and expression status of SOX2 in sinonasal carcinomas and to correlate the results with clinico-pathological data.Materials and MethodsA total of 119 primary tumor samples from the sinonasal region were assessed by fluorescence in-situ hybridization and immunohistochemistry for SOX2 gene amplification and protein expression, respectively. Of these, 59 were SSCs, 18 sinonasal undifferentiated carcinomas (SNUC), 10 carcinomas associated with an inverted papilloma (INVC), 19 adenocarcinomas (AD) and 13 adenoid cystic carcinomas (ACC).Results SOX2 amplifications were found in subsets of SCCs (37.5%), SNUCs (35.3%), INVCs (37.5%) and ADs (8.3%) but not in ACCs. SOX2 amplification resulted in increased protein expression. Patients with SOX2-amplified sinonasal carcinomas showed a significantly higher rate of tumor recurrences than SOX2 non-amplified tumors.ConclusionThis is the first study assessing SOX2 amplification and expression in a large cohort of sinonasal carcinomas. As opposed to AD and ACC, SOX2 amplifications were detected in more than 1/3 of all SCCs, SNUCs and INVCs. We therefore suggest that SNUCs are molecularly closely related to SCCs and INVCs and that these entities represent a subgroup of sinonasal carcinomas relying on SOX2 acquisition during oncogenesis. SOX2 amplification appears to identify sinonasal carcinomas that are more likely to relapse after primary therapy, suggesting that these patients might benefit from a more aggressive therapy regime.
Highlights
Recent advances in genetic profiling have led to more refined molecular classifications of specific tumor entities, providing novel diagnostic, prognostic and predictive biomarkers and paving the way for rational therapy regimens
Sex Determining Region Y-Box 2 (SOX2) amplifications were found in subsets of squamous cell carcinoma (SCC) (37.5%), sinonasal undifferentiated carcinomas (SNUC) (35.3%), INVCs (37.5%) and ADs (8.3%) but not in adenoid cystic carcinomas (ACC)
We suggest that SNUCs are molecularly closely related to SCCs and INVCs and that these entities represent a subgroup of sinonasal carcinomas relying on SOX2 acquisition during oncogenesis
Summary
Recent advances in genetic profiling have led to more refined molecular classifications of specific tumor entities, providing novel diagnostic, prognostic and predictive biomarkers and paving the way for rational therapy regimens. The annual incidence rate is 0.5 to 1.0 per 100 000 people [2]. These tumors mainly occur within the maxillary sinus (,60%) or the nasal cavity (,30%) [1]. Despite improvements in the field of surgery and radiochemotherapy, most patients suffering from carcinomas of the sinonasal origin have an unfavourable prognosis even in the setting of aggressive therapy [3], [4]. While controversy persists in determining the optimal therapeutic approach in a given patient, prognostic markers identifying patients who will benefit from more aggressive treatment and novel molecular targeted therapies are urgently needed
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