NUT Carcinoma of the Salivary Glands: Clinicopathologic and Molecular Analysis of 3 Cases and a Survey of NUT Expression in Salivary Gland Carcinomas

Agaimy A, Fonseca I, Martins C, Thway K, Barrette R, Harrington KJ, Hartmann A, French CA, Fisher C (2018)

Publication Type: Journal article

Publication year: 2018

Journal

American Journal of Surgical Pathology Lippincott, Williams & Wilkins

Book Volume: 42

Pages Range: 877-884

Journal Issue: 7

DOI: 10.1097/PAS.0000000000001046

Abstract

NUT carcinoma (NC) represents a rare subset of highly aggressive poorly differentiated carcinomas characterized by rearrangement of the NUT (aka NUTM1, nuclear protein in testis) gene, most commonly fused to BRD4. Originally described as a mediastinal/thymic malignancy, NC has been reported at a variety of anatomic regions including the upper and lower aerodigestive tract. To date, only 7 NC cases of probable salivary gland origin have been reported. We herein describe 3 new cases (all affecting the parotid gland) in 2 women (39- and 55-y old) and 1 man (35-y old). Histologic examination showed poorly differentiated neoplasms composed of poorly cohesive small-sized to medium-sized cells with variable squamoid cell component that was focal and abrupt. Immunohistochemistry showed uniform expression of p63 and distinctive punctate expression of the NUT antigen in the tumor cell nuclei. Review of the reported salivary gland NC cases (total, 10) showed a male:female ratio of 1.5:1 and an age range of 12 to 55 years (median, 29 y). Site of the primary tumor was the parotid (7), sublingual (2), and submandibular (1) glands. All presented as rapidly growing masses treated by surgery followed by adjuvant radiotherapy/chemotherapy. Initial nodal status was positive in 8/10. At last follow-up (1 to 24 mo; median, 5 mo), 7/10 patients died of disease at a median of 5.5 months (1 to 24 mo) and only 2 were disease free at 7 and 14 months. Of 9 cases with genetic data, the fusion partner was BRD4 (n=7), non-BRD4/3 (n=1), or undetermined (n=1). None of 306 carcinomas spanning the spectrum of salivary carcinoma types screened by NUT immunohistochemistry was positive. This is the first small series on salivary NC highlighting the importance to include this rare disease in the differential diagnosis of poorly differentiated salivary gland carcinomas and in cases of presumable poorly differentiated carcinoma of unknown origin.

Authors with CRIS profile

Abbas Agaimy Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie Arndt Hartmann Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie

Involved external institutions

Harvard University US United States (USA) (US) Royal Marsden Hospital / The Royal Marsden NHS Foundation Trust GB United Kingdom (GB) Instituto Português de Oncologia Francisco Gentil (IPO) / Portuguese Oncology Institute PT Portugal (PT) University of Lisbon / Universidade de Lisboa (ULisboa) PT Portugal (PT)

How to cite

APA:

Agaimy, A., Fonseca, I., Martins, C., Thway, K., Barrette, R., Harrington, K.J.,... Fisher, C. (2018). NUT Carcinoma of the Salivary Glands: Clinicopathologic and Molecular Analysis of 3 Cases and a Survey of NUT Expression in Salivary Gland Carcinomas. American Journal of Surgical Pathology, 42(7), 877-884. https://doi.org/10.1097/PAS.0000000000001046

MLA:

Agaimy, Abbas, et al. "NUT Carcinoma of the Salivary Glands: Clinicopathologic and Molecular Analysis of 3 Cases and a Survey of NUT Expression in Salivary Gland Carcinomas." American Journal of Surgical Pathology 42.7 (2018): 877-884.

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