Abstract 2125: Genetic analysis for classification and treatment of poorly differentiated sinonasal cancer
| العنوان: | Abstract 2125: Genetic analysis for classification and treatment of poorly differentiated sinonasal cancer |
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| المؤلفون: | Mario Hermsen, Cristina Riobello, Virginia N. Cabal, Rocío García-Marín, Sira Potes-Ares, Laura Suárez-Fernández, Blanca Vivanco, Alessandro Franchi, Reinhard Büttner, Fernando López, José Luis Llorente |
| المصدر: | Cancer Research. 79:2125-2125 |
| بيانات النشر: | American Association for Cancer Research (AACR), 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Cancer Research, Oncology |
| الوصف: | Introduction: The sinonasal cavities harbour a wide variety of rare tumour types, including squamous-cell carcinoma (SNSCC), intestinal-type adenocarcinoma (ITAC), olfactory neuroblastoma (ONB), neuroendocrine carcinoma (SNEC), undifferentiated carcinoma (SNUC) and malignant mucosal melanoma (MMM). Histopathological classification is related to clinical outcome, but correct diagnosis is difficult in cases with poor differentiation. Five-year overall survival ranges from 20% to 60% while therapeutic options are limited. This study aims to identify genetic alterations that may aid diagnosis and indicate targets for modern specific therapies. Experimental procedures: DNA was extracted from 80 frozen or paraffin-embedded tumor tissues collected from three different hospital centers. Mutations were screened by next generation sequencing of a panel of 120 cancer-related genes using the SureSelect QXT Target Enrichment Kit for Ilumina Multiplexed Sequencing, and recurrent hits were confirmed by Sanger sequencing and by analyzing their effect on protein expression. Results: Frequently mutated genes were TP53, KRAS, PI3K, NTRK1, ATM and BRCA1 and BRCA2. Several mutations were found exclusive to only one sinonasal tumor-type: APC and B-catenin in ITAC, EGFR exon 20 in SNSCC, IDH2 in SNUC and NF1 in MMM. With exception of ONB, a majority of cases showed a high mutational burden. Conclusions: A number of tumor-specific mutations were identified that may be used for differential diagnosis. In addition, many gene mutations may serve as targets for specific antibody or small molecule inhibitors. Finally, the finding that sinonasal tumors carry a high mutational burden suggests that therapy with immune checkpoint inhibitors may be effective in clinical management. Citation Format: Mario Hermsen, Cristina Riobello, Virginia N. Cabal, Rocío García-Marín, Sira Potes-Ares, Laura Suárez-Fernández, Blanca Vivanco, Alessandro Franchi, Reinhard Büttner, Fernando López, José Luis Llorente. Genetic analysis for classification and treatment of poorly differentiated sinonasal cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 2125. |
| تدمد: | 1538-7445 0008-5472 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::3adf0dd63de594cdd6229f3572324366Test https://doi.org/10.1158/1538-7445.am2019-2125Test |
| رقم الانضمام: | edsair.doi...........3adf0dd63de594cdd6229f3572324366 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15387445 00085472 |
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