摘要
Abstract
Objective:Nuclear protein in testis(NUT)carcinoma primarily arising in the thorax is rare and characterized by high malignancy,rapid progression,and poor prognosis.This study aims to investigate the clinicopathological features,diagnosis,differential diagnosis,treatment,and prognosis of primary thoracic NUT carcinoma,in order to enhance pathologists'understanding and reduce misdiagnosis.
Methods:Ten cases of primary thoracic NUT carcinoma diagnosed from 2018 to 2024 in the Department of Pathology of First Affiliated Hospital of Air Force Medical University were collected.Their clinicopathological features and immunophenotypes were analyzed.Fluorescence in situ hybridization(FISH)with break-apart probes and next-generation sequencing(NGS)were performed to detect NUT midline carcinoma family member 1(NUTM1)rearrangements.Relevant literature review was systematically reviewed.
Results:All 10 cases originated in the thorax,with a mean patient age of 49.2 years.The main symptom was cough;2 cases had a smoking history,and 1 had abnormal biochemical indicators.Four patients died 5-7 months after diagnosis.Microscopically,tumors were composed predominantly of poorly differentiated small round cells arranged in solid,sheet-like,nest-like,and cluster-like patterns,with high nuclear-to-cytoplasmic ratios,eosinophilic cytoplasm,frequent mitoses,and necrosis.Abrupt keratinization was observed in 1 case(1/10).Immunohistochemistry showed diffuse positivity for NUT(10/10),tumor protein p63(TP63)(7/7),40 S ribosomal protein SA(p40)(3/7),cytokeratin(CK)5/6(5/9),and switch/sucrose nonfermentable complex related matrix associated actin dependent regulator of chromatin subfamily A member 4(SMARCA4)(8/9).The mean Ki-67 proliferation index was 70%.FISH detected NUTM1 rearrangements in 5/6 cases.NGS revealed BRD4::NUTM1 fusions(2/3)and a BRD3::NUTM1 fusion(1/3).
Conclusion:NUT carcinoma is a rare,highly aggressive malignancy.Its diagnosis requires a combination of histopathological evaluation,immunohistochemistry,and molecular testing.关键词
睾丸核蛋白癌/组织学特征/免疫组织化学/荧光原位杂交/二代测序Key words
nuclear protein in testis carcinoma/histological features/immunohistochemistry/fluorescence in situ hybridization/next-generation sequencing
