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 A, Tögel L, Stöhr R, Meidenbauer N, Semrau S, Hartmann A, Mantsopoulos K (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Virchows Archiv Springer Verlag (Germany)

Abstract

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.

Authors with CRIS profile

Abbas Agaimy Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie Lars Tögel Institute of Pathology Norbert Meidenbauer Department of Medicine 5 – Haematology and Oncology Sabine Semrau Medizinische Fakultät Arndt Hartmann Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie Konstantinos Mantsopoulos Department of Otorhinolaryngology – Head and Neck Surgery

How to cite

APA:

Agaimy, A., Tögel, L., Stöhr, R., Meidenbauer, N., Semrau, S., Hartmann, A., & Mantsopoulos, K. (2021). 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. Virchows Archiv. https://dx.doi.org/10.1007/s00428-021-03103-8

MLA:

Agaimy, Abbas, et al. "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." Virchows Archiv (2021).

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