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ALK alterations in salivary gland carcinomas

H. Majewska, A. Gorczyński, P. Czapiewski, R. Menon, J. Mueller, S. Lakis, JM. Heuckmann, J. Laco, R. Gupta, S. Andreasen, D. Stodulski, M. Iliszko, R. Dziadziuszko, J. Jassem, LC. Heukamp, W. Biernat

. 2021 ; 478 (5) : 933-941. [pub] 20201125

Language English Country Germany

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc21018756

Grant support
02-0095/07/267 Medical University of Gdansk (PL)
01-0424/08/267 Medical University of Gdansk (PL)
02-0023/07/171 Medical University of Gdansk (PL)

E-resources Online Full text

NLK ProQuest Central from 2003-01-01 to 1 year ago
Medline Complete (EBSCOhost) from 2011-01-01 to 1 year ago
Nursing & Allied Health Database (ProQuest) from 2003-01-01 to 1 year ago
Health & Medicine (ProQuest) from 2003-01-01 to 1 year ago

Links

PubMed 33237469
DOI 10.1007/s00428-020-02971-w
Knihovny.cz E-resources

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.

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$a Salivary gland carcinomas represent a heterogeneous group of poorly characterized head and neck tumors. The purpose of this study was to evaluate ALK gene and protein aberrations in a large, well-characterized cohort of these tumors. A total of 182 salivary gland carcinomas were tested for anaplastic lymphoma kinase (ALK) positivity by immunohistochemistry (IHC) using the cut-off of 10% positive cells. ALK positive tumors were subjected to FISH analysis and followed by hybrid capture-based next generation sequencing (NGS). Of the 182 tumors, 8 were ALK positive by IHC. Further analysis using hybrid capture NGS analysis revealed a novel MYO18A (Exon1-40)-ALK (exon 20-29) gene fusion in one case of intraductal carcinoma. Additional genomic analyses resulted in the detection of inactivating mutations in BRAF and TP53, as well as amplifications of ERBB2 and ALK. ALK rearrangements are a rare entity in salivary gland carcinomas. We identified a potentially targetable novel ALK fusion in an intraductal carcinoma of minor salivary glands.
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$a Gorczyński, Adam $u Department of Pathomorphology, Medical University of Gdańsk, ul. Smoluchowskiego, 17 80-211, Gdańsk, Poland
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$a Czapiewski, Piotr $u Department of Pathomorphology, Medical University of Gdańsk, ul. Smoluchowskiego, 17 80-211, Gdańsk, Poland
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$a Menon, Roopika $u NEO New Oncology GmbH, Cologne, Germany
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$a Mueller, Judith $u NEO New Oncology GmbH, Cologne, Germany
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$a Heuckmann, Johannes M $u NEO New Oncology GmbH, Cologne, Germany
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$a Laco, Jan $u The Fingerland Department of Pathology, Charles University Faculty of Medicine in Hradec Kralove and University Hospital Hradec Kralove, Hradec Kralove, Czech Republic
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$a Gupta, Ruta $u Department of Tissue Pathology and Diagnostic Oncology, University of Sydney, Sydney, Australia
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$a Iliszko, Mariola $u Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland
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$a Heukamp, Lukas C $u Institute of Hematopathology Hamburg, Hamburg, Germany
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$a Biernat, Wojciech $u Department of Pathomorphology, Medical University of Gdańsk, ul. Smoluchowskiego, 17 80-211, Gdańsk, Poland. biernat@gumed.edu.pl
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