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Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior

Primary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland-type tumor newly recognized in recent years, with approximately 21 cases reported to date in the English literature, which constitutes a challenge in pathology diagnosis, particularly in small biopsy specimens. Here,...

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Autores principales: Wu, You-Li, Wu, Feng, Cao, Mian-Fu, Lan, Yang, Du, Ming-Shan, Yu, Song-Tao, Wang, Yan, Yan, Xiao-Chu, Bian, Xiu-Wu, Duan, Guang-Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234330/
https://www.ncbi.nlm.nih.gov/pubmed/37274229
http://dx.doi.org/10.3389/fonc.2023.1175279
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author Wu, You-Li
Wu, Feng
Cao, Mian-Fu
Lan, Yang
Du, Ming-Shan
Yu, Song-Tao
Wang, Yan
Yan, Xiao-Chu
Bian, Xiu-Wu
Duan, Guang-Jie
author_facet Wu, You-Li
Wu, Feng
Cao, Mian-Fu
Lan, Yang
Du, Ming-Shan
Yu, Song-Tao
Wang, Yan
Yan, Xiao-Chu
Bian, Xiu-Wu
Duan, Guang-Jie
author_sort Wu, You-Li
collection PubMed
description Primary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland-type tumor newly recognized in recent years, with approximately 21 cases reported to date in the English literature, which constitutes a challenge in pathology diagnosis, particularly in small biopsy specimens. Here, we present a case of pulmonary HCCC diagnosed by computed tomography-guided percutaneous lung biopsy in a 70-year-old man’s right lower lung. Although the morphology and immunophenotype of the tumor suggested the diagnosis of mucoepidermoid carcinoma, fluorescence in situ hybridization failed to reveal the rearrangement of MAML2 gene, which is characteristic of mucoepidermoid carcinoma. Instead, further molecular genetic testing showed that the tumor harbored a rare EWSR1::CREM fusion combined with a previously unreported IRF2::NTRK3 fusion. Pulmonary HCCC is commonly regarded as a low-grade malignant tumor with an indolent course, but this case has a different biological behavior, presenting extensive dissemination and metastases at the time of diagnosis, which expands our understanding of the prognosis of this tumor. The patient has had five cycles of combination chemotherapy and has been alive with the tumor for eight months.
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spelling pubmed-102343302023-06-02 Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior Wu, You-Li Wu, Feng Cao, Mian-Fu Lan, Yang Du, Ming-Shan Yu, Song-Tao Wang, Yan Yan, Xiao-Chu Bian, Xiu-Wu Duan, Guang-Jie Front Oncol Oncology Primary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland-type tumor newly recognized in recent years, with approximately 21 cases reported to date in the English literature, which constitutes a challenge in pathology diagnosis, particularly in small biopsy specimens. Here, we present a case of pulmonary HCCC diagnosed by computed tomography-guided percutaneous lung biopsy in a 70-year-old man’s right lower lung. Although the morphology and immunophenotype of the tumor suggested the diagnosis of mucoepidermoid carcinoma, fluorescence in situ hybridization failed to reveal the rearrangement of MAML2 gene, which is characteristic of mucoepidermoid carcinoma. Instead, further molecular genetic testing showed that the tumor harbored a rare EWSR1::CREM fusion combined with a previously unreported IRF2::NTRK3 fusion. Pulmonary HCCC is commonly regarded as a low-grade malignant tumor with an indolent course, but this case has a different biological behavior, presenting extensive dissemination and metastases at the time of diagnosis, which expands our understanding of the prognosis of this tumor. The patient has had five cycles of combination chemotherapy and has been alive with the tumor for eight months. Frontiers Media S.A. 2023-05-17 /pmc/articles/PMC10234330/ /pubmed/37274229 http://dx.doi.org/10.3389/fonc.2023.1175279 Text en Copyright © 2023 Wu, Wu, Cao, Lan, Du, Yu, Wang, Yan, Bian and Duan https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Wu, You-Li
Wu, Feng
Cao, Mian-Fu
Lan, Yang
Du, Ming-Shan
Yu, Song-Tao
Wang, Yan
Yan, Xiao-Chu
Bian, Xiu-Wu
Duan, Guang-Jie
Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior
title Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior
title_full Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior
title_fullStr Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior
title_full_unstemmed Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior
title_short Primary pulmonary hyalinizing clear cell carcinoma with fusions of both EWSR1::CREM and IRF2::NTRK3: report of a case with an aggressive behavior
title_sort primary pulmonary hyalinizing clear cell carcinoma with fusions of both ewsr1::crem and irf2::ntrk3: report of a case with an aggressive behavior
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10234330/
https://www.ncbi.nlm.nih.gov/pubmed/37274229
http://dx.doi.org/10.3389/fonc.2023.1175279
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