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Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation

Pulmonary Sclerosing Pneumocytoma (PSP) is considered as a benign tumor, although a few cases have been reported to have multiple lesions, recurrence, and even regional lymph nodes (LNs) metastasis. Here, we report a case of PSP with atypical histologic features and malignant biological behavior, an...

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Autores principales: Wang, Qiushi, Lu, Chunlin, Jiang, Minrui, Li, Mengxia, Yang, Xiao, Zhang, Lei, He, Yong, Mao, Chengyi, Fu, Ping, Yang, Ying, Xiao, Hualiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455843/
https://www.ncbi.nlm.nih.gov/pubmed/34568352
http://dx.doi.org/10.3389/fmed.2021.655574
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author Wang, Qiushi
Lu, Chunlin
Jiang, Minrui
Li, Mengxia
Yang, Xiao
Zhang, Lei
He, Yong
Mao, Chengyi
Fu, Ping
Yang, Ying
Xiao, Hualiang
author_facet Wang, Qiushi
Lu, Chunlin
Jiang, Minrui
Li, Mengxia
Yang, Xiao
Zhang, Lei
He, Yong
Mao, Chengyi
Fu, Ping
Yang, Ying
Xiao, Hualiang
author_sort Wang, Qiushi
collection PubMed
description Pulmonary Sclerosing Pneumocytoma (PSP) is considered as a benign tumor, although a few cases have been reported to have multiple lesions, recurrence, and even regional lymph nodes (LNs) metastasis. Here, we report a case of PSP with atypical histologic features and malignant biological behavior, and explore its molecular genetic changes. The 23-year-old male showed a 6.5-cm pulmonary nodule in the right middle lobe (RML) and enlarged media stinal LNs. He underwent thoracoscopic RML lobectomy, systematic LNs dissection, and mediastinal lymphadenectomy. The metastases to the cervical LNs and liver were detected in a short period and then resected. Postoperative pathological examination confirmed the diagnosis of PSP in all the lesions, based on the histological characteristics and immune phenotypes. Furthermore, whole-exome sequencing identified both AKT1 E17K somatic mutation and TP53 C176Y germline mutation in this case. Thus, we presented an extremely rare case of atypical PSP with rapid recurrence and multiply metastases, which can easily be misdiagnosed as primary lung cancer. In addition, PSP-specific AKT1 E17K somatic E17K somatic mutation accompanied with TP53 C176Y germline mutation may contribute to the malignant clinical course of this tumor.
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spelling pubmed-84558432021-09-23 Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation Wang, Qiushi Lu, Chunlin Jiang, Minrui Li, Mengxia Yang, Xiao Zhang, Lei He, Yong Mao, Chengyi Fu, Ping Yang, Ying Xiao, Hualiang Front Med (Lausanne) Medicine Pulmonary Sclerosing Pneumocytoma (PSP) is considered as a benign tumor, although a few cases have been reported to have multiple lesions, recurrence, and even regional lymph nodes (LNs) metastasis. Here, we report a case of PSP with atypical histologic features and malignant biological behavior, and explore its molecular genetic changes. The 23-year-old male showed a 6.5-cm pulmonary nodule in the right middle lobe (RML) and enlarged media stinal LNs. He underwent thoracoscopic RML lobectomy, systematic LNs dissection, and mediastinal lymphadenectomy. The metastases to the cervical LNs and liver were detected in a short period and then resected. Postoperative pathological examination confirmed the diagnosis of PSP in all the lesions, based on the histological characteristics and immune phenotypes. Furthermore, whole-exome sequencing identified both AKT1 E17K somatic mutation and TP53 C176Y germline mutation in this case. Thus, we presented an extremely rare case of atypical PSP with rapid recurrence and multiply metastases, which can easily be misdiagnosed as primary lung cancer. In addition, PSP-specific AKT1 E17K somatic E17K somatic mutation accompanied with TP53 C176Y germline mutation may contribute to the malignant clinical course of this tumor. Frontiers Media S.A. 2021-09-08 /pmc/articles/PMC8455843/ /pubmed/34568352 http://dx.doi.org/10.3389/fmed.2021.655574 Text en Copyright © 2021 Wang, Lu, Jiang, Li, Yang, Zhang, He, Mao, Fu, Yang and Xiao. 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 Medicine
Wang, Qiushi
Lu, Chunlin
Jiang, Minrui
Li, Mengxia
Yang, Xiao
Zhang, Lei
He, Yong
Mao, Chengyi
Fu, Ping
Yang, Ying
Xiao, Hualiang
Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation
title Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation
title_full Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation
title_fullStr Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation
title_full_unstemmed Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation
title_short Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation
title_sort case report and literature review: pulmonary sclerosing pneumocytoma with multiple metastases harboring akt1 e17k somatic mutation and tp53 c176y germline mutation
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455843/
https://www.ncbi.nlm.nih.gov/pubmed/34568352
http://dx.doi.org/10.3389/fmed.2021.655574
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