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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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Detalles Bibliográficos
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
Descripción
Sumario: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.