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ALK alterations in salivary gland carcinomas

Salivary gland carcinomas represent a heterogeneous group of poorly characterized head and neck tumors. The purpose of this study was to evaluate ALK gene and protein aberrations in a large, well-characterized cohort of these tumors. A total of 182 salivary gland carcinomas were tested for anaplasti...

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Autores principales: Majewska, Hanna, Gorczyński, Adam, Czapiewski, Piotr, Menon, Roopika, Mueller, Judith, Lakis, Sotirios, Heuckmann, Johannes M., Laco, Jan, Gupta, Ruta, Andreasen, Simon, Stodulski, Dominik, Iliszko, Mariola, Dziadziuszko, Rafał, Jassem, Jacek, Heukamp, Lukas C., Biernat, Wojciech
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099847/
https://www.ncbi.nlm.nih.gov/pubmed/33237469
http://dx.doi.org/10.1007/s00428-020-02971-w
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author Majewska, Hanna
Gorczyński, Adam
Czapiewski, Piotr
Menon, Roopika
Mueller, Judith
Lakis, Sotirios
Heuckmann, Johannes M.
Laco, Jan
Gupta, Ruta
Andreasen, Simon
Stodulski, Dominik
Iliszko, Mariola
Dziadziuszko, Rafał
Jassem, Jacek
Heukamp, Lukas C.
Biernat, Wojciech
author_facet Majewska, Hanna
Gorczyński, Adam
Czapiewski, Piotr
Menon, Roopika
Mueller, Judith
Lakis, Sotirios
Heuckmann, Johannes M.
Laco, Jan
Gupta, Ruta
Andreasen, Simon
Stodulski, Dominik
Iliszko, Mariola
Dziadziuszko, Rafał
Jassem, Jacek
Heukamp, Lukas C.
Biernat, Wojciech
author_sort Majewska, Hanna
collection PubMed
description Salivary gland carcinomas represent a heterogeneous group of poorly characterized head and neck tumors. The purpose of this study was to evaluate ALK gene and protein aberrations in a large, well-characterized cohort of these tumors. A total of 182 salivary gland carcinomas were tested for anaplastic lymphoma kinase (ALK) positivity by immunohistochemistry (IHC) using the cut-off of 10% positive cells. ALK positive tumors were subjected to FISH analysis and followed by hybrid capture–based next generation sequencing (NGS). Of the 182 tumors, 8 were ALK positive by IHC. Further analysis using hybrid capture NGS analysis revealed a novel MYO18A (Exon1-40)-ALK (exon 20-29) gene fusion in one case of intraductal carcinoma. Additional genomic analyses resulted in the detection of inactivating mutations in BRAF and TP53, as well as amplifications of ERBB2 and ALK. ALK rearrangements are a rare entity in salivary gland carcinomas. We identified a potentially targetable novel ALK fusion in an intraductal carcinoma of minor salivary glands. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00428-020-02971-w.
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spelling pubmed-80998472021-05-11 ALK alterations in salivary gland carcinomas Majewska, Hanna Gorczyński, Adam Czapiewski, Piotr Menon, Roopika Mueller, Judith Lakis, Sotirios Heuckmann, Johannes M. Laco, Jan Gupta, Ruta Andreasen, Simon Stodulski, Dominik Iliszko, Mariola Dziadziuszko, Rafał Jassem, Jacek Heukamp, Lukas C. Biernat, Wojciech Virchows Arch Original Article Salivary gland carcinomas represent a heterogeneous group of poorly characterized head and neck tumors. The purpose of this study was to evaluate ALK gene and protein aberrations in a large, well-characterized cohort of these tumors. A total of 182 salivary gland carcinomas were tested for anaplastic lymphoma kinase (ALK) positivity by immunohistochemistry (IHC) using the cut-off of 10% positive cells. ALK positive tumors were subjected to FISH analysis and followed by hybrid capture–based next generation sequencing (NGS). Of the 182 tumors, 8 were ALK positive by IHC. Further analysis using hybrid capture NGS analysis revealed a novel MYO18A (Exon1-40)-ALK (exon 20-29) gene fusion in one case of intraductal carcinoma. Additional genomic analyses resulted in the detection of inactivating mutations in BRAF and TP53, as well as amplifications of ERBB2 and ALK. ALK rearrangements are a rare entity in salivary gland carcinomas. We identified a potentially targetable novel ALK fusion in an intraductal carcinoma of minor salivary glands. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00428-020-02971-w. Springer Berlin Heidelberg 2020-11-25 2021 /pmc/articles/PMC8099847/ /pubmed/33237469 http://dx.doi.org/10.1007/s00428-020-02971-w Text en © The Author(s) 2020 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Majewska, Hanna
Gorczyński, Adam
Czapiewski, Piotr
Menon, Roopika
Mueller, Judith
Lakis, Sotirios
Heuckmann, Johannes M.
Laco, Jan
Gupta, Ruta
Andreasen, Simon
Stodulski, Dominik
Iliszko, Mariola
Dziadziuszko, Rafał
Jassem, Jacek
Heukamp, Lukas C.
Biernat, Wojciech
ALK alterations in salivary gland carcinomas
title ALK alterations in salivary gland carcinomas
title_full ALK alterations in salivary gland carcinomas
title_fullStr ALK alterations in salivary gland carcinomas
title_full_unstemmed ALK alterations in salivary gland carcinomas
title_short ALK alterations in salivary gland carcinomas
title_sort alk alterations in salivary gland carcinomas
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099847/
https://www.ncbi.nlm.nih.gov/pubmed/33237469
http://dx.doi.org/10.1007/s00428-020-02971-w
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