Thoracic nuclear protein in testis (NUT) carcinoma: expanded pathological spectrum with expression of thyroid transcription factor-1 and neuroendocrine markers
Autor: | G. Petur Nielsen, Marina Kem, Athena L. Chen, Jochen K. Lennerz, Yin P Hung, Christopher G. Azzoli, Martin S. Taylor, Martin K. Selig, Richard L. Kradin, Tiffany Huynh, Mari Mino-Kenudson, Ibiayi Dagogo-Jack |
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Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
Adult Male Pathology medicine.medical_specialty Histology Lung Neoplasms Squamous Differentiation Thyroid Nuclear Factor 1 Neuroendocrine differentiation Pathology and Forensic Medicine Surgical pathology 03 medical and health sciences 0302 clinical medicine Carcinoma medicine Humans Aged Aged 80 and over business.industry digestive oral and skin physiology Thyroid food and beverages Mediastinum Nuclear Proteins General Medicine Middle Aged medicine.disease Neoplasm Proteins 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Adenocarcinoma Immunohistochemistry Female business |
Zdroj: | HistopathologyReferences. 78(6) |
ISSN: | 1365-2559 |
Popis: | Aims Nuclear protein in testis (NUT) carcinoma, an aggressive tumour driven by NUTM1 rearrangements, often involves the lung/mediastinum and shows squamous differentiation. We encountered an index patient with a thoracic NUT carcinoma diagnosed by molecular testing, showing extensive pleural involvement and diffuse thyroid transcription factor-1 (TTF-1) expression, initially suggestive of lung adenocarcinoma with pseudomesotheliomatous growth. We thus gathered an institutional series of thoracic NUT carcinomas to examine their pathological spectrum. Methods and results We searched for thoracic NUT carcinomas in our surgical pathology files and in 2289 consecutive patients with primary thoracic tumours investigated with RNA-based assays. We performed NUT immunohistochemistry on 425 additional lung adenocarcinomas. Collectively, we identified six patients (five men and one woman; age 31-80 years; four never-smokers) with thoracic NUT carcinomas confirmed by molecular testing (including five with positive NUT immunohistochemistry). They died at 2.3-12.9 months (median, 2.8 months) after presentation. Two patients were diagnosed by histopathological assessment, and the remaining four (including the index patient) were diagnosed by molecular testing. Analysis of the index case revealed expression of multiple neuroendocrine markers and TTF-1; no ultrastructural evidence of neuroendocrine differentiation was noted. No additional NUT-positive cases were found by immunohistochemical screening. Conclusions Although NUT carcinoma classically shows squamous differentiation, it can rarely express TTF-1 (even diffusely) and/or multiple neuroendocrine markers. This immunophenotypic spectrum may lead to diagnostic confusion with pulmonary adenocarcinoma, neuroendocrine tumour, and others. To circumvent this pitfall, NUT immunohistochemistry and/or NUTM1 molecular testing should be considered in primitive-appearing tumours, regardless of their immunophenotypic features. |
Databáze: | OpenAIRE |
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