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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

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Názov: 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
Autori: Abbas Agaimy, Lars Tögel, Robert Stoehr, Norbert Meidenbauer, Sabine Semrau, Arndt Hartmann, Konstantinos Mantsopoulos
Zdroj: Virchows Arch
Informácie o vydavateľovi: Springer Science and Business Media LLC, 2021.
Rok vydania: 2021
Predmety: Adult, 0301 basic medicine, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Eosinophilia, Biomarkers, Tumor, Humans, ddc:610, Thyroid Neoplasms, Gene Rearrangement, Sclerosis, Brief Report, Nuclear Proteins, Neoplasms, Second Primary, Histone-Lysine N-Methyltransferase, Neoplasm Proteins, 3. Good health, Treatment Outcome, Eosinophilia/pathology [MeSH], Thyroid Neoplasms/genetics [MeSH], Neoplasms, Second Primary/pathology [MeSH], Diagnosis, Differential [MeSH], NUT carcinoma, Eosinophilia/surgery [MeSH], Neck Dissection [MeSH], Thyroid Neoplasms/surgery [MeSH], Sclerosing mucoepidermoid carcinoma with eosinophilia, Neoplasm Recurrence, Local [MeSH], Gene Rearrangement [MeSH], Neoplasms, Second Primary/genetics [MeSH], Midline carcinoma, Sclerosis [MeSH], Gene Fusion [MeSH], Carcinoma, Mucoepidermoid/pathology [MeSH], Female [MeSH], Histone-Lysine N-Methyltransferase/genetics [MeSH], Adult [MeSH], Head and neck, Humans [MeSH], Treatment Outcome [MeSH], Thyroidectomy [MeSH], NSD3, Predictive Value of Tests [MeSH], NUTM1, Thyroid Neoplasms/pathology [MeSH], Nuclear Proteins/genetics [MeSH], Neoplasm Proteins/genetics [MeSH], Carcinoma, Mucoepidermoid/surgery [MeSH], Biomarkers, Tumor/genetics [MeSH], Thyroid gland, Thyroidectomy, Neck Dissection, Carcinoma, Mucoepidermoid, Female, Gene Fusion, Neoplasm Recurrence, Local
Popis: 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.
Druh dokumentu: Article
Other literature type
Popis súboru: application/pdf
Jazyk: English
ISSN: 1432-2307
0945-6317
DOI: 10.1007/s00428-021-03103-8
Prístupová URL adresa: https://link.springer.com/content/pdf/10.1007/s00428-021-03103-8.pdf
https://pubmed.ncbi.nlm.nih.gov/33891143
https://www.ncbi.nlm.nih.gov/pubmed/33891143
https://link.springer.com/content/pdf/10.1007/s00428-021-03103-8.pdf
https://pubmed.ncbi.nlm.nih.gov/33891143/
https://link.springer.com/article/10.1007/s00428-021-03103-8
https://opus4.kobv.de/opus4-fau/files/22115/s00428-021-03103-8.pdf
https://repository.publisso.de/resource/frl:6450042
Rights: CC BY
URL: http://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/ (http://creativecommons.org/licenses/by/4.0/) .
Prístupové číslo: edsair.doi.dedup.....eb0d3a843e03747e4f458c816c7e35cb
Databáza: OpenAIRE
Popis
Abstrakt: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.
ISSN:14322307
09456317
DOI:10.1007/s00428-021-03103-8