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Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor
BACKGROUND: Metastasis to the pituitary gland from neuroendocrine tumors is a rare occurrence that may originate from primary tumors the lung, gastrointestinal tract, thyroid, and pancreas, among others. Patients may present with signs of endocrine dysfunction secondary to pituitary involvement, as...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Scientific Scholar
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568119/ https://www.ncbi.nlm.nih.gov/pubmed/33093980 http://dx.doi.org/10.25259/SNI_265_2020 |
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author | Christopher S, . Hong Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. Beckta, Jason M. McGuone, Declan Erson-Omay, E. Zeynep Omay, Sacit Bulent |
author_facet | Christopher S, . Hong Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. Beckta, Jason M. McGuone, Declan Erson-Omay, E. Zeynep Omay, Sacit Bulent |
author_sort | Christopher S, . Hong |
collection | PubMed |
description | BACKGROUND: Metastasis to the pituitary gland from neuroendocrine tumors is a rare occurrence that may originate from primary tumors the lung, gastrointestinal tract, thyroid, and pancreas, among others. Patients may present with signs of endocrine dysfunction secondary to pituitary involvement, as well as mass effect-related symptoms including headaches and visual deficits. Despite a small but accumulating body of literature describing the clinical and histopathological correlates for pituitary metastases from neuroendocrine tumors, the genetic basis underlying this presentation remains poorly characterized. CASE DESCRIPTION: We report the case of a 68-year-old with a history of lung carcinoid tumor who developed a suprasellar lesion, causing mild visual deficits but otherwise without clinical or biochemical endocrine abnormalities. She underwent endoscopic endonasal resection of her tumor with final pathology confirming metastasis from her original neuroendocrine tumor. Whole-exome sequencing was performed on the resected sellar tumor and matching blood, revealing increased genomic instability and key mutations in PTCH1 and BCOR that have been previously implicated in both systemic neuroendocrine and primary pituitary tumors with potentially actionable therapeutic targets. CONCLUSION: This is the first genomic characterization of a metastatic tumor to the sella and reports potential genetic insight, implicating PTCH1 and BCOR mutations, into the pathophysiology of sellar metastasis from primary systemic tumors. |
format | Online Article Text |
id | pubmed-7568119 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Scientific Scholar |
record_format | MEDLINE/PubMed |
spelling | pubmed-75681192020-10-21 Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor Christopher S, . Hong Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. Beckta, Jason M. McGuone, Declan Erson-Omay, E. Zeynep Omay, Sacit Bulent Surg Neurol Int Case Report BACKGROUND: Metastasis to the pituitary gland from neuroendocrine tumors is a rare occurrence that may originate from primary tumors the lung, gastrointestinal tract, thyroid, and pancreas, among others. Patients may present with signs of endocrine dysfunction secondary to pituitary involvement, as well as mass effect-related symptoms including headaches and visual deficits. Despite a small but accumulating body of literature describing the clinical and histopathological correlates for pituitary metastases from neuroendocrine tumors, the genetic basis underlying this presentation remains poorly characterized. CASE DESCRIPTION: We report the case of a 68-year-old with a history of lung carcinoid tumor who developed a suprasellar lesion, causing mild visual deficits but otherwise without clinical or biochemical endocrine abnormalities. She underwent endoscopic endonasal resection of her tumor with final pathology confirming metastasis from her original neuroendocrine tumor. Whole-exome sequencing was performed on the resected sellar tumor and matching blood, revealing increased genomic instability and key mutations in PTCH1 and BCOR that have been previously implicated in both systemic neuroendocrine and primary pituitary tumors with potentially actionable therapeutic targets. CONCLUSION: This is the first genomic characterization of a metastatic tumor to the sella and reports potential genetic insight, implicating PTCH1 and BCOR mutations, into the pathophysiology of sellar metastasis from primary systemic tumors. Scientific Scholar 2020-09-25 /pmc/articles/PMC7568119/ /pubmed/33093980 http://dx.doi.org/10.25259/SNI_265_2020 Text en Copyright: © 2020 Surgical Neurology International http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Christopher S, . Hong Kundishora, Adam J. Elsamadicy, Aladine A. Koo, Andrew B. Beckta, Jason M. McGuone, Declan Erson-Omay, E. Zeynep Omay, Sacit Bulent Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
title | Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
title_full | Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
title_fullStr | Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
title_full_unstemmed | Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
title_short | Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
title_sort | genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568119/ https://www.ncbi.nlm.nih.gov/pubmed/33093980 http://dx.doi.org/10.25259/SNI_265_2020 |
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