Nasal and Paranasal Squamous Cell Carcinoma: Molecular and Genetic Analysis

Objectives/Hypothesis: Squamous cell carcinomas of the nasal cavity (SCCNC) are rare tumors with no epidemiological link to tobacco and alcohol. Little is known about the genetic changes in these tumors. This study aims to define the genetic profile of these malignancies. Study Design: Ambispective. Methods: Twenty-seven cases of SCCNC were studied. All tumors were analyzed by MLPA (multiplex ligation-dependent probe amplification). In addition, 11 tumors were analyzed by microarray comparative genomic hybridization (CGH). Results: Twenty-three tumors (85%) affected the maxillary sinus, and 4 (15%) affected the ethmoid sinus. Twenty-four patients (89%) had a tumor in advanced stage. Four cases (15%) had positive lymph nodes at the time of diagnosis. Ten patients (37%) had orbital disruption, and 1 (4%) had intracranial involvement. All patients underwent surgical intervention, and 70% received complementary radiotherapy. Overall 5-year survival was 28%. In the analysis by MLPA, gains were found most frequently for EMS1, BCL2L1, RECQL4, RELA, ERBB2, CCND1, STK11, PTPN1, and MYC. Losses occurred most frequently at BRCA1, CRK, STCH, RB1, CDH2, PDCD8, IL18, CDKN2A, IL4, BCAR3, MLH1b, and CASP6. With microarray CGH, gains were observed more frequently in 5pter-5p15.2, 5p15.2, 7p11.2, 8q24.23-8qter, and 11q13. The most frequent losses were located in 3p13 and 9p12-3q11.2. Conclusions: The MLPA and microarray CGH results enabled better definition of chromosome and gene hotspots, which aided further investigation in the tumorigenesis of SCCNC. After studying the genetic profile of SCCNC, we found similarities with squamous cell carcinoma of the pharynx and larynx.