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YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal

Gene fusions involving the NUTM1 gene (NUT) represent defining genetic markers of a highly aggressive carcinoma type with predilection for the midline structures of children and young adults, hence the original description as NUT midline carcinoma. Recent studies have increasingly documented involve...

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Autores principales: Agaimy, Abbas, Tögel, Lars, Haller, Florian, Zenk, Johannes, Hornung, Joachim, Märkl, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669971/
https://www.ncbi.nlm.nih.gov/pubmed/32436169
http://dx.doi.org/10.1007/s12105-020-01173-9
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author Agaimy, Abbas
Tögel, Lars
Haller, Florian
Zenk, Johannes
Hornung, Joachim
Märkl, Bruno
author_facet Agaimy, Abbas
Tögel, Lars
Haller, Florian
Zenk, Johannes
Hornung, Joachim
Märkl, Bruno
author_sort Agaimy, Abbas
collection PubMed
description Gene fusions involving the NUTM1 gene (NUT) represent defining genetic markers of a highly aggressive carcinoma type with predilection for the midline structures of children and young adults, hence the original description as NUT midline carcinoma. Recent studies have increasingly documented involvement of the NUTM1 gene in the pathogenesis of other entities as well. We herein describe two cases of auditory canal carcinomas with features of porocarcinoma, both harboring a newly described YAP1-NUTM1 gene fusion. Patients were males aged 28 and 82 years who presented with slowly growing lesions in the external auditory canal. Histologic examination showed monomorphic basaloid and squamoid cells arranged into organoid solid aggregates, nests, ducts, small cysts, and focal pseudocribriform pattern with variable mitotic activity, infiltrative growth, and focal squamous differentiation, particularly in the most superficial part of the tumor. Immunohistochemistry revealed consistent reactivity for CK5, p63 and SOX10 and diffuse aberrant expression of TP53. CK7 expression was limited to a few luminal ductal cells. The androgen receptor and S100 were negative. Next generation sequencing (TruSight RNA fusion panel, Illumina) revealed the same YAP1-NUTM1 gene fusion in both tumors, which was subsequently confirmed by NUT-FISH and the monoclonal anti-NUT antibody. These cases represent a novel contribution to the spectrum of NUT-rearranged head and neck malignancies. This adnexal carcinoma variant should not be confused with the highly lethal NUT carcinoma based on NUT immunoreactivity alone.
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spelling pubmed-76699712020-11-20 YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal Agaimy, Abbas Tögel, Lars Haller, Florian Zenk, Johannes Hornung, Joachim Märkl, Bruno Head Neck Pathol Original Paper Gene fusions involving the NUTM1 gene (NUT) represent defining genetic markers of a highly aggressive carcinoma type with predilection for the midline structures of children and young adults, hence the original description as NUT midline carcinoma. Recent studies have increasingly documented involvement of the NUTM1 gene in the pathogenesis of other entities as well. We herein describe two cases of auditory canal carcinomas with features of porocarcinoma, both harboring a newly described YAP1-NUTM1 gene fusion. Patients were males aged 28 and 82 years who presented with slowly growing lesions in the external auditory canal. Histologic examination showed monomorphic basaloid and squamoid cells arranged into organoid solid aggregates, nests, ducts, small cysts, and focal pseudocribriform pattern with variable mitotic activity, infiltrative growth, and focal squamous differentiation, particularly in the most superficial part of the tumor. Immunohistochemistry revealed consistent reactivity for CK5, p63 and SOX10 and diffuse aberrant expression of TP53. CK7 expression was limited to a few luminal ductal cells. The androgen receptor and S100 were negative. Next generation sequencing (TruSight RNA fusion panel, Illumina) revealed the same YAP1-NUTM1 gene fusion in both tumors, which was subsequently confirmed by NUT-FISH and the monoclonal anti-NUT antibody. These cases represent a novel contribution to the spectrum of NUT-rearranged head and neck malignancies. This adnexal carcinoma variant should not be confused with the highly lethal NUT carcinoma based on NUT immunoreactivity alone. Springer US 2020-05-20 /pmc/articles/PMC7669971/ /pubmed/32436169 http://dx.doi.org/10.1007/s12105-020-01173-9 Text en © The Author(s) 2020 Open AccessThis 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/.
spellingShingle Original Paper
Agaimy, Abbas
Tögel, Lars
Haller, Florian
Zenk, Johannes
Hornung, Joachim
Märkl, Bruno
YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
title YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
title_full YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
title_fullStr YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
title_full_unstemmed YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
title_short YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
title_sort yap1-nutm1 gene fusion in porocarcinoma of the external auditory canal
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7669971/
https://www.ncbi.nlm.nih.gov/pubmed/32436169
http://dx.doi.org/10.1007/s12105-020-01173-9
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