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Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases
Metastatic PitNETs are a rare life-threatening condition with poor prognosis and documentation. Due to the scarce literature and lack of precise treatment, we hope to better characterise PitNET using the next-generation whole exon sequencing (WES) and RNA sequencing. This case study outlines a 54 ye...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600493/ https://www.ncbi.nlm.nih.gov/pubmed/37901430 http://dx.doi.org/10.3389/fnins.2023.1191596 |
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author | Zhang, Yi Li, Victoria Liu, Jifang Zhu, Huijuan Lu, Lin Pan, Hui Wang, Renzhi Deng, Kan Yao, Yong |
author_facet | Zhang, Yi Li, Victoria Liu, Jifang Zhu, Huijuan Lu, Lin Pan, Hui Wang, Renzhi Deng, Kan Yao, Yong |
author_sort | Zhang, Yi |
collection | PubMed |
description | Metastatic PitNETs are a rare life-threatening condition with poor prognosis and documentation. Due to the scarce literature and lack of precise treatment, we hope to better characterise PitNET using the next-generation whole exon sequencing (WES) and RNA sequencing. This case study outlines a 54 years-old man and a 52 years-old woman who were both diagnosed with PitNET and analysis of peripheral blood and tumours were performed by WES and RNA sequencing. Analysis showed that DICER1 mutations in precancerous lesions and LAG3 overexpression were significant in aiding the prognosis and diagnosis of PitNETs. The first case with overexpressed LAG3 and DICER1 mutation died 26 months later, and the second case with LAG3 overexpression achieved partial remission. This study revealed that heightened expression of LAG3 offered promising targets for ICI and mutations in DICER1 could provide markers for effective diagnosis and prognosis. |
format | Online Article Text |
id | pubmed-10600493 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-106004932023-10-27 Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases Zhang, Yi Li, Victoria Liu, Jifang Zhu, Huijuan Lu, Lin Pan, Hui Wang, Renzhi Deng, Kan Yao, Yong Front Neurosci Neuroscience Metastatic PitNETs are a rare life-threatening condition with poor prognosis and documentation. Due to the scarce literature and lack of precise treatment, we hope to better characterise PitNET using the next-generation whole exon sequencing (WES) and RNA sequencing. This case study outlines a 54 years-old man and a 52 years-old woman who were both diagnosed with PitNET and analysis of peripheral blood and tumours were performed by WES and RNA sequencing. Analysis showed that DICER1 mutations in precancerous lesions and LAG3 overexpression were significant in aiding the prognosis and diagnosis of PitNETs. The first case with overexpressed LAG3 and DICER1 mutation died 26 months later, and the second case with LAG3 overexpression achieved partial remission. This study revealed that heightened expression of LAG3 offered promising targets for ICI and mutations in DICER1 could provide markers for effective diagnosis and prognosis. Frontiers Media S.A. 2023-10-12 /pmc/articles/PMC10600493/ /pubmed/37901430 http://dx.doi.org/10.3389/fnins.2023.1191596 Text en Copyright © 2023 Zhang, Li, Liu, Zhu, Lu, Pan, Wang, Deng and Yao. 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 | Neuroscience Zhang, Yi Li, Victoria Liu, Jifang Zhu, Huijuan Lu, Lin Pan, Hui Wang, Renzhi Deng, Kan Yao, Yong Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases |
title | Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases |
title_full | Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases |
title_fullStr | Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases |
title_full_unstemmed | Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases |
title_short | Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases |
title_sort | case report: identification of potential prognosis-related lag3 overexpression and dicer1 mutation in pituitary carcinoma: two cases |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600493/ https://www.ncbi.nlm.nih.gov/pubmed/37901430 http://dx.doi.org/10.3389/fnins.2023.1191596 |
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