Cargando…
NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case
Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is an exceedingly rare low-grade thyroid malignancy of unknown histogenesis. NUT carcinoma is another rare, highly aggressive neoplasm with predilection for the midline, defined by recurrent NUTM1 fusions. The bromodomain family genes (BR...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724182/ https://www.ncbi.nlm.nih.gov/pubmed/33891143 http://dx.doi.org/10.1007/s00428-021-03103-8 |
_version_ | 1784625870283997184 |
---|---|
author | Agaimy, Abbas Tögel, Lars Stoehr, Robert Meidenbauer, Norbert Semrau, Sabine Hartmann, Arndt Mantsopoulos, Konstantinos |
author_facet | Agaimy, Abbas Tögel, Lars Stoehr, Robert Meidenbauer, Norbert Semrau, Sabine Hartmann, Arndt Mantsopoulos, Konstantinos |
author_sort | Agaimy, Abbas |
collection | PubMed |
description | Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is an exceedingly rare low-grade thyroid malignancy of unknown histogenesis. NUT carcinoma is another rare, highly aggressive neoplasm with predilection for the midline, defined by recurrent NUTM1 fusions. The bromodomain family genes (BRD4 or BRD3) and rarely NSD3, ZNF532, or others are known fusion partners. We describe an extraordinary case of a 42-year-old female with a thyroid SMECE treated by thyroidectomy and neck dissection. She presented 6 months later with extensive midline recurrence encasing/compressing the trachea. Biopsy revealed poorly differentiated carcinoma with abrupt squamous differentiation, suggestive of NUT carcinoma. Immunohistochemistry confirmed expression of monoclonal NUT antibody. Targeted RNA sequencing revealed the NSD3-NUTM1 fusion in the NUT carcinoma, but not in the SMECE. This unique case highlights unusual sequential origin of two exceptionally rare entities at same anatomic site and underlines the necessity of sampling unexpectedly aggressive recurrences of otherwise indolent malignancies. |
format | Online Article Text |
id | pubmed-8724182 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-87241822022-01-13 NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case Agaimy, Abbas Tögel, Lars Stoehr, Robert Meidenbauer, Norbert Semrau, Sabine Hartmann, Arndt Mantsopoulos, Konstantinos Virchows Arch Brief Report Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is an exceedingly rare low-grade thyroid malignancy of unknown histogenesis. NUT carcinoma is another rare, highly aggressive neoplasm with predilection for the midline, defined by recurrent NUTM1 fusions. The bromodomain family genes (BRD4 or BRD3) and rarely NSD3, ZNF532, or others are known fusion partners. We describe an extraordinary case of a 42-year-old female with a thyroid SMECE treated by thyroidectomy and neck dissection. She presented 6 months later with extensive midline recurrence encasing/compressing the trachea. Biopsy revealed poorly differentiated carcinoma with abrupt squamous differentiation, suggestive of NUT carcinoma. Immunohistochemistry confirmed expression of monoclonal NUT antibody. Targeted RNA sequencing revealed the NSD3-NUTM1 fusion in the NUT carcinoma, but not in the SMECE. This unique case highlights unusual sequential origin of two exceptionally rare entities at same anatomic site and underlines the necessity of sampling unexpectedly aggressive recurrences of otherwise indolent malignancies. Springer Berlin Heidelberg 2021-04-23 2021 /pmc/articles/PMC8724182/ /pubmed/33891143 http://dx.doi.org/10.1007/s00428-021-03103-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Brief Report Agaimy, Abbas Tögel, Lars Stoehr, Robert Meidenbauer, Norbert Semrau, Sabine Hartmann, Arndt Mantsopoulos, Konstantinos NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
title | NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
title_full | NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
title_fullStr | NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
title_full_unstemmed | NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
title_short | NSD3-NUTM1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
title_sort | nsd3-nutm1-rearranged carcinoma of the median neck/thyroid bed developing after recent thyroidectomy for sclerosing mucoepidermoid carcinoma with eosinophilia: report of an extraordinary case |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724182/ https://www.ncbi.nlm.nih.gov/pubmed/33891143 http://dx.doi.org/10.1007/s00428-021-03103-8 |
work_keys_str_mv | AT agaimyabbas nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase AT togellars nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase AT stoehrrobert nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase AT meidenbauernorbert nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase AT semrausabine nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase AT hartmannarndt nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase AT mantsopouloskonstantinos nsd3nutm1rearrangedcarcinomaofthemedianneckthyroidbeddevelopingafterrecentthyroidectomyforsclerosingmucoepidermoidcarcinomawitheosinophiliareportofanextraordinarycase |