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.
Adult
Biomarkers, Tumor
/ genetics
Carcinoma, Mucoepidermoid
/ pathology
Diagnosis, Differential
Eosinophilia
/ pathology
Female
Gene Fusion
Gene Rearrangement
Histone-Lysine N-Methyltransferase
/ genetics
Humans
Neck Dissection
Neoplasm Proteins
/ genetics
Neoplasm Recurrence, Local
Neoplasms, Second Primary
/ genetics
Nuclear Proteins
/ genetics
Predictive Value of Tests
Sclerosis
Thyroid Neoplasms
/ genetics
Thyroidectomy
Treatment Outcome
Head and neck
Midline carcinoma
NSD3
NUT carcinoma
NUTM1
Sclerosing mucoepidermoid carcinoma with eosinophilia
Thyroid gland
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
15
03
2021
accepted:
13
04
2021
revised:
31
03
2021
pubmed:
24
4
2021
medline:
18
1
2022
entrez:
23
4
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33891143
doi: 10.1007/s00428-021-03103-8
pii: 10.1007/s00428-021-03103-8
pmc: PMC8724182
doi:
Substances chimiques
Biomarkers, Tumor
0
NUTM1 protein, human
0
Neoplasm Proteins
0
Nuclear Proteins
0
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
NSD3 protein, human
EC 2.1.1.43
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1095-1099Informations de copyright
© 2021. The Author(s).
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