Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma
Abstract Introduction Pulmonary nuclear protein of the testis (NUT) midline carcinoma (NMC) is a aggressive cancer with t (15, 19) translocation. Here we present the clinicopathological characteristics and molecular genetics alterations of primary pulmonary NMC. Methods Fluorescence in situ hybridiz...
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| Format: | Article |
| Language: | English |
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Wiley
2021-09-01
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| Series: | Cancer Medicine |
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| Online Access: | https://doi.org/10.1002/cam4.4096 |
| _version_ | 1818695304565751808 |
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| author | Mian Xie Xinge Fu Wei Wang |
| author_facet | Mian Xie Xinge Fu Wei Wang |
| author_sort | Mian Xie |
| collection | DOAJ |
| description | Abstract Introduction Pulmonary nuclear protein of the testis (NUT) midline carcinoma (NMC) is a aggressive cancer with t (15, 19) translocation. Here we present the clinicopathological characteristics and molecular genetics alterations of primary pulmonary NMC. Methods Fluorescence in situ hybridization (FISH) assay was performed to evaluate NUT translocation. Next generation sequencing (NGS) was performed to investigate genomic landscape. A panel of 289 lung cancer tissues with undifferentiation was retrospectively screened for NUT expression by immunohistochemical (IHC) assay. Results Overall, 2136 lung cancer samples were reviewed. We consecutively identified 12 cases of primary pulmonary NMC. Computed tomography revealed centrally located bulky lung mass with ipsilateral mediastinal lymph node and pleural involvements. Tumor cells presented diffuse poor differentiation and focal squamous differentiation with positive NUT expression. NUT rearrangement was confirmed by FISH assay. Ten NMC samples were investigated by NGS. The most common alterations identified were P53, PIK3CA, AUTS2, ITIH2, and CDKL5 genes. Pulmonary NMC exhibited increased activity of PI3K/AKT pathway. In the screening study, BRD4‐NUT rearrangement was identified in two cases. Conclusion NUT rearrangement remains the gold standard in the diagnosis of pulmonary NMC. PI3K inhibition is a potential targeted therapy for pulmonary NMC. |
| first_indexed | 2024-12-17T13:43:21Z |
| format | Article |
| id | doaj.art-165dbc8a178e466eb66e91bbadc3e6df |
| institution | Directory Open Access Journal |
| issn | 2045-7634 |
| language | English |
| last_indexed | 2024-12-17T13:43:21Z |
| publishDate | 2021-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cancer Medicine |
| spelling | doaj.art-165dbc8a178e466eb66e91bbadc3e6df2022-12-21T21:46:13ZengWileyCancer Medicine2045-76342021-09-0110175757576410.1002/cam4.4096Clinicopathological and molecular characterizations of pulmonary NUT midline carcinomaMian Xie0Xinge Fu1Wei Wang2Department of Medical Oncology Guangdong Provincial People's Hospital and Guangdong Academy of Medical Sciences Guangzhou ChinaDepartment of Pathology The First Affiliated Hospital of Guangzhou Medical University Guangzhou ChinaDepartment of Thoracic Surgery The First Affiliated Hospital of Guangzhou Medical University Beijing ChinaAbstract Introduction Pulmonary nuclear protein of the testis (NUT) midline carcinoma (NMC) is a aggressive cancer with t (15, 19) translocation. Here we present the clinicopathological characteristics and molecular genetics alterations of primary pulmonary NMC. Methods Fluorescence in situ hybridization (FISH) assay was performed to evaluate NUT translocation. Next generation sequencing (NGS) was performed to investigate genomic landscape. A panel of 289 lung cancer tissues with undifferentiation was retrospectively screened for NUT expression by immunohistochemical (IHC) assay. Results Overall, 2136 lung cancer samples were reviewed. We consecutively identified 12 cases of primary pulmonary NMC. Computed tomography revealed centrally located bulky lung mass with ipsilateral mediastinal lymph node and pleural involvements. Tumor cells presented diffuse poor differentiation and focal squamous differentiation with positive NUT expression. NUT rearrangement was confirmed by FISH assay. Ten NMC samples were investigated by NGS. The most common alterations identified were P53, PIK3CA, AUTS2, ITIH2, and CDKL5 genes. Pulmonary NMC exhibited increased activity of PI3K/AKT pathway. In the screening study, BRD4‐NUT rearrangement was identified in two cases. Conclusion NUT rearrangement remains the gold standard in the diagnosis of pulmonary NMC. PI3K inhibition is a potential targeted therapy for pulmonary NMC.https://doi.org/10.1002/cam4.4096lung cancerNUT midline carcinomasquamous cell carcinoma |
| spellingShingle | Mian Xie Xinge Fu Wei Wang Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma Cancer Medicine lung cancer NUT midline carcinoma squamous cell carcinoma |
| title | Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma |
| title_full | Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma |
| title_fullStr | Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma |
| title_full_unstemmed | Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma |
| title_short | Clinicopathological and molecular characterizations of pulmonary NUT midline carcinoma |
| title_sort | clinicopathological and molecular characterizations of pulmonary nut midline carcinoma |
| topic | lung cancer NUT midline carcinoma squamous cell carcinoma |
| url | https://doi.org/10.1002/cam4.4096 |
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