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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...

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Autores principales: Zhang, Yi, Li, Victoria, Liu, Jifang, Zhu, Huijuan, Lu, Lin, Pan, Hui, Wang, Renzhi, Deng, Kan, Yao, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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.
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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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