Authors: | Viswanathan, K.; Hahn, E.; Dogan, S.; Weinreb, I.; Dickson, B. C.; MacMillan, C.; Katabi, N.; Magliocca, K.; Ghossein, R.; Xu, B. |
Article Title: | The histological spectrum and immunoprofile of head and neck NUT carcinoma: A multicentre series of 30 cases |
Abstract: | Background and aim: Head and neck nuclear protein of testis carcinoma (HN-NUT) is a rare form of carcinoma diagnosed by NUT immunohistochemistry positivity and/or NUTM1 translocation. Although the prototype of HN-NUT is a primitive undifferentiated round cell tumour (URC) with immunopositivity for squamous markers, it is our observation that it may assume variant histology or immunoprofile. Methods: We conducted a detailed clinicopathological review of a large retrospective cohort of 30 HN-NUT, aiming to expand its histological and immunohistochemical spectrum. Results: The median age of patients with HN-NUT was 39 years (range = 17–86). It affected the sinonasal tract (43%), major salivary glands (20%), thyroid (13%), oral cavity (7%), larynx (7%), neck (7%) and nasopharynx (3%). Although most cases of HN-NUT (63%) contained a component of primitive URC tumour, 53% showed other histological features and 37% lacked a URC component altogether. Variant histological features included basaloid (33%), differentiated squamous/squamoid (37%), clear cell changes (13%), glandular differentiation (7%) and papillary architecture (10%), which could co-exist. While most HN-NUT were positive for keratins, p63 and p40, occasional cases (5–9%) were entirely negative. Immunopositivity for neuroendocrine markers and thyroid transcription factor-1 was observed in 33 and 36% of cases, respectively. The outcome of HN-NUT was dismal, with a 3-year disease specific survival of 38%. Conclusions: HN-NUT can affect individuals across a wide age range and arise from various head and neck sites. It exhibits a diverse spectrum of histological features and may be positive for neuroendocrine markers, potentially leading to underdiagnosis. A low threshold to perform NUT-specific tests is necessary to accurately diagnose HN-NUT. © 2024 John Wiley & Sons Ltd. |
Keywords: | immunohistochemistry; adolescent; adult; cancer survival; clinical article; human tissue; aged; aged, 80 and over; middle aged; retrospective studies; young adult; unclassified drug; oncoprotein; clinical feature; clinical trial; histopathology; larynx carcinoma; cisplatin; disease free survival; lymph node metastasis; adenocarcinoma; metabolism; basal cell carcinoma; nuclear protein; tumor differentiation; neoplasm proteins; cohort analysis; pathology; retrospective study; tumor marker; cancer mortality; distant metastasis; nuclear proteins; fluorescence in situ hybridization; head and neck neoplasms; multicenter study; adjuvant chemotherapy; oncogene proteins; diagnosis; tumor protein; diagnostic error; nasopharynx carcinoma; protein p63; thyroid carcinoma; clear cell carcinoma; papillary carcinoma; acinar cell carcinoma; adjuvant radiotherapy; chromogranin; head and neck; disease specific survival; mouth carcinoma; salivary gland carcinoma; parotid gland carcinoma; head and neck tumor; perineural invasion; anaplastic carcinoma; head and neck carcinoma; chemoradiotherapy; neuroendocrine carcinoma; synaptophysin; mucin; protein p40; surgical margin; fusion protein; head and neck squamous cell carcinoma; keratin; sinonasal carcinoma; soft tissue cancer; glycogen; submandibular gland; poorly differentiated thyroid cancer; high throughput sequencing; lymph vessel metastasis; distant metastasis free survival; very elderly; mucoepidermoid tumor; humans; human; male; female; article; rna sequencing; nut carcinoma; biomarkers, tumor; homeobox protein nkx 2.1; nutm1; mouth floor; major salivary gland; neck nuclear protein of testis; nutm1 protein, human; carcinoma of the cheek mucosa; head and neck nuclear protein of testis carcinoma; neck carcinoma |
Journal Title: | Histopathology |
Volume: | 85 |
Issue: | 2 |
ISSN: | 0309-0167 |
Publisher: | Wiley Blackwell |
Date Published: | 2024-08-01 |
Start Page: | 317 |
End Page: | 326 |
Language: | English |
DOI: | 10.1111/his.15204 |
PUBMED: | 38708903 |
PROVIDER: | scopus |
PMCID: | PMC11246813 |
DOI/URL: | |
Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledge in the PDF -- Corresponding authors is MSK author: Bin Xu -- Source: Scopus |