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Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition

Primary pulmonary mucoepidermoid carcinoma (PMEC) is a very rare form of lung carcinoma. Due to the low incidence, little is known about its inherent genetic variation characteristics. The uniform treatment for PMEC has not been determined. In this case, we present a 45-year-old male with stage IA P...

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Autores principales: Dong, Weijie, Zhu, Bing, You, Yan, Wang, Bing, Fu, Dan, Wang, Daoxin, Li, He, Li, Changyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8980482/
https://www.ncbi.nlm.nih.gov/pubmed/35392240
http://dx.doi.org/10.3389/fonc.2022.820966
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author Dong, Weijie
Zhu, Bing
You, Yan
Wang, Bing
Fu, Dan
Wang, Daoxin
Li, He
Li, Changyi
author_facet Dong, Weijie
Zhu, Bing
You, Yan
Wang, Bing
Fu, Dan
Wang, Daoxin
Li, He
Li, Changyi
author_sort Dong, Weijie
collection PubMed
description Primary pulmonary mucoepidermoid carcinoma (PMEC) is a very rare form of lung carcinoma. Due to the low incidence, little is known about its inherent genetic variation characteristics. The uniform treatment for PMEC has not been determined. In this case, we present a 45-year-old male with stage IA PMEC. The surgical specimens contained changes from low- to intermediate-to-high grade. We performed integrative analysis of whole-exome sequencing (WES-seq) and messenger ribonucleic acid sequencing (RNA-seq) to compare the molecular changes in the different lesions. Molecular testing exhibits the specimens harboring CRTC3-MAML2 fusion. The copy number gain of PDPK1 is only present in high-grade regional specimens. We also explored the level of immune infiltration by CIBERSORT. To our knowledge, this is the first report to describe a case of PMEC in the low- to intermediate–high-grade transition with multiomics analysis.
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spelling pubmed-89804822022-04-06 Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition Dong, Weijie Zhu, Bing You, Yan Wang, Bing Fu, Dan Wang, Daoxin Li, He Li, Changyi Front Oncol Oncology Primary pulmonary mucoepidermoid carcinoma (PMEC) is a very rare form of lung carcinoma. Due to the low incidence, little is known about its inherent genetic variation characteristics. The uniform treatment for PMEC has not been determined. In this case, we present a 45-year-old male with stage IA PMEC. The surgical specimens contained changes from low- to intermediate-to-high grade. We performed integrative analysis of whole-exome sequencing (WES-seq) and messenger ribonucleic acid sequencing (RNA-seq) to compare the molecular changes in the different lesions. Molecular testing exhibits the specimens harboring CRTC3-MAML2 fusion. The copy number gain of PDPK1 is only present in high-grade regional specimens. We also explored the level of immune infiltration by CIBERSORT. To our knowledge, this is the first report to describe a case of PMEC in the low- to intermediate–high-grade transition with multiomics analysis. Frontiers Media S.A. 2022-03-22 /pmc/articles/PMC8980482/ /pubmed/35392240 http://dx.doi.org/10.3389/fonc.2022.820966 Text en Copyright © 2022 Dong, Zhu, You, Wang, Fu, Wang, Li and Li 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
Dong, Weijie
Zhu, Bing
You, Yan
Wang, Bing
Fu, Dan
Wang, Daoxin
Li, He
Li, Changyi
Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
title Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
title_full Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
title_fullStr Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
title_full_unstemmed Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
title_short Gene Expression and Mutational Landscape in a PMEC Patient With Low to Intermediate-High Grade Transition
title_sort gene expression and mutational landscape in a pmec patient with low to intermediate-high grade transition
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8980482/
https://www.ncbi.nlm.nih.gov/pubmed/35392240
http://dx.doi.org/10.3389/fonc.2022.820966
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