Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report

BackgroundPrimary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare type of primary salivary gland-type tumor of the lung. HCCC is characterized by unique pathological features, including nests, cords, or trabeculae of clear or eosinophilic tumor cells infiltrating a mucinous or hyalinized...

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Main Authors: Can-hui Jian, Shuai Luo, Jin-jing Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Oncology
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Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2024.1509132/full
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author Can-hui Jian
Shuai Luo
Jin-jing Wang
author_facet Can-hui Jian
Shuai Luo
Jin-jing Wang
author_sort Can-hui Jian
collection DOAJ
description BackgroundPrimary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare type of primary salivary gland-type tumor of the lung. HCCC is characterized by unique pathological features, including nests, cords, or trabeculae of clear or eosinophilic tumor cells infiltrating a mucinous or hyalinized stroma. Additional analyses of this carcinoma have revealed positive epithelial markers via immunophenotyping and EWSR1 gene translocation through genetic testing. However, the morphology of HCCC has been found to change during bronchoscopic biopsy, suggesting certain challenges for its clinical diagnosis and treatment.Case presentationA 47-year-old female patient presented with a 2-month history of cough, sputum production, and dyspnea. A chest CT scan found a nodular soft tissue density shadow in the lower segment of the trachea. Subsequently, the patient underwent tumor resection via combined flexible and rigid bronchoscopy. Postoperative pathological examination, including immunohistochemistry and molecular testing, confirmed an EWSR1 gene translocation. The final pathological diagnosis was primary pulmonary HCCC. A follow-up at 6 months post-surgery showed mediastinal lymph node metastasis.ConclusionsPrimary pulmonary HCCC is an extremely rare, low-grade malignant epithelial tumor of the lung, which has a notably difficult clinical diagnosis and treatment due to the absence of a standard treatment protocol. This case report presents a patient with primary pulmonary HCCC confirmed by molecular testing, aiming to raise awareness about this tumor among physicians and provide valuable clinical references.
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spelling doaj-art-6c9562ed72ba412a908704e6bca5cedc2024-12-11T05:10:29ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2024-12-011410.3389/fonc.2024.15091321509132Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case reportCan-hui JianShuai LuoJin-jing WangBackgroundPrimary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare type of primary salivary gland-type tumor of the lung. HCCC is characterized by unique pathological features, including nests, cords, or trabeculae of clear or eosinophilic tumor cells infiltrating a mucinous or hyalinized stroma. Additional analyses of this carcinoma have revealed positive epithelial markers via immunophenotyping and EWSR1 gene translocation through genetic testing. However, the morphology of HCCC has been found to change during bronchoscopic biopsy, suggesting certain challenges for its clinical diagnosis and treatment.Case presentationA 47-year-old female patient presented with a 2-month history of cough, sputum production, and dyspnea. A chest CT scan found a nodular soft tissue density shadow in the lower segment of the trachea. Subsequently, the patient underwent tumor resection via combined flexible and rigid bronchoscopy. Postoperative pathological examination, including immunohistochemistry and molecular testing, confirmed an EWSR1 gene translocation. The final pathological diagnosis was primary pulmonary HCCC. A follow-up at 6 months post-surgery showed mediastinal lymph node metastasis.ConclusionsPrimary pulmonary HCCC is an extremely rare, low-grade malignant epithelial tumor of the lung, which has a notably difficult clinical diagnosis and treatment due to the absence of a standard treatment protocol. This case report presents a patient with primary pulmonary HCCC confirmed by molecular testing, aiming to raise awareness about this tumor among physicians and provide valuable clinical references.https://www.frontiersin.org/articles/10.3389/fonc.2024.1509132/fullpulmonary tumorhyalinizationclear cell carcinomadiagnosticclinicopathological features
spellingShingle Can-hui Jian
Shuai Luo
Jin-jing Wang
Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
Frontiers in Oncology
pulmonary tumor
hyalinization
clear cell carcinoma
diagnostic
clinicopathological features
title Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
title_full Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
title_fullStr Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
title_full_unstemmed Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
title_short Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
title_sort primary pulmonary hyalinizing clear cell carcinoma with ewsr1 gene translocation a case report
topic pulmonary tumor
hyalinization
clear cell carcinoma
diagnostic
clinicopathological features
url https://www.frontiersin.org/articles/10.3389/fonc.2024.1509132/full
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AT shuailuo primarypulmonaryhyalinizingclearcellcarcinomawithewsr1genetranslocationacasereport
AT jinjingwang primarypulmonaryhyalinizingclearcellcarcinomawithewsr1genetranslocationacasereport