Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report

Granular cell tumors of the pituitary belong to a rare family of neoplasms, arising from the posterior pituitary gland. Although considered benign, they may cause significant morbidity and residual disease after resection can lead to poor clinical outcomes. Currently, there is no known medical thera...

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Autores principales:	Christopher S. Hong, Aladine A. Elsamadicy, Adeniyi Fisayo, Silvio E. Inzucchi, Pallavi P. Gopal, Eugenia M. Vining, E. Zeynep Erson-Omay, Sacit Bulent Omay
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	pituitary granular cell sequencing SETD2 PAX8 case report Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/94c5af30f1824fb198d774373bd5ae74
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spelling	oai:doaj.org-article:94c5af30f1824fb198d774373bd5ae742021-12-01T22:52:38ZComprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report1664-239210.3389/fendo.2021.762095https://doaj.org/article/94c5af30f1824fb198d774373bd5ae742021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.762095/fullhttps://doaj.org/toc/1664-2392Granular cell tumors of the pituitary belong to a rare family of neoplasms, arising from the posterior pituitary gland. Although considered benign, they may cause significant morbidity and residual disease after resection can lead to poor clinical outcomes. Currently, there is no known medical therapy for any posterior pituitary gland tumor, in part due to sparse molecular characterization of these lesions. We report data from whole exome sequencing of a case of granular cell tumor of the pituitary, performed under an institutional review board approved protocol. A 77 year-old female underwent resection of an incidentally diagnosed pituitary mass that was causing radiographic compression of the optic nerves with a subclinical temporal field defect and central hypothyroidism. The pathology of the resected specimen demonstrated a granular cell tumor of the posterior pituitary gland. Whole-exome sequencing revealed mutations predicted to be deleterious in key oncogenes, SETD2 and PAX8, both of which have been described in other cancers and could potentially be amenable to targeted therapies with existing approved drugs, including immune checkpoint inhibitors and histone deacetylase inhibitors, respectively. To our knowledge, this is the first comprehensive genomic characterization of granular cell tumor of the posterior pituitary gland. We report mutations in oncogenes predicted to be deleterious and reported in other cancers with potential for therapeutic targeting with existing pharmacologic agents. These data provide new insights into the molecular pathogenesis of GCT of the pituitary and may warrant further investigation.Christopher S. HongAladine A. ElsamadicyAdeniyi FisayoSilvio E. InzucchiPallavi P. GopalEugenia M. ViningE. Zeynep Erson-OmaySacit Bulent OmayFrontiers Media S.A.articlepituitarygranular cellsequencingSETD2PAX8case reportDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pituitary granular cell sequencing SETD2 PAX8 case report Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	pituitary granular cell sequencing SETD2 PAX8 case report Diseases of the endocrine glands. Clinical endocrinology RC648-665 Christopher S. Hong Aladine A. Elsamadicy Adeniyi Fisayo Silvio E. Inzucchi Pallavi P. Gopal Eugenia M. Vining E. Zeynep Erson-Omay Sacit Bulent Omay Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
description	Granular cell tumors of the pituitary belong to a rare family of neoplasms, arising from the posterior pituitary gland. Although considered benign, they may cause significant morbidity and residual disease after resection can lead to poor clinical outcomes. Currently, there is no known medical therapy for any posterior pituitary gland tumor, in part due to sparse molecular characterization of these lesions. We report data from whole exome sequencing of a case of granular cell tumor of the pituitary, performed under an institutional review board approved protocol. A 77 year-old female underwent resection of an incidentally diagnosed pituitary mass that was causing radiographic compression of the optic nerves with a subclinical temporal field defect and central hypothyroidism. The pathology of the resected specimen demonstrated a granular cell tumor of the posterior pituitary gland. Whole-exome sequencing revealed mutations predicted to be deleterious in key oncogenes, SETD2 and PAX8, both of which have been described in other cancers and could potentially be amenable to targeted therapies with existing approved drugs, including immune checkpoint inhibitors and histone deacetylase inhibitors, respectively. To our knowledge, this is the first comprehensive genomic characterization of granular cell tumor of the posterior pituitary gland. We report mutations in oncogenes predicted to be deleterious and reported in other cancers with potential for therapeutic targeting with existing pharmacologic agents. These data provide new insights into the molecular pathogenesis of GCT of the pituitary and may warrant further investigation.
format	article
author	Christopher S. Hong Aladine A. Elsamadicy Adeniyi Fisayo Silvio E. Inzucchi Pallavi P. Gopal Eugenia M. Vining E. Zeynep Erson-Omay Sacit Bulent Omay
author_facet	Christopher S. Hong Aladine A. Elsamadicy Adeniyi Fisayo Silvio E. Inzucchi Pallavi P. Gopal Eugenia M. Vining E. Zeynep Erson-Omay Sacit Bulent Omay
author_sort	Christopher S. Hong
title	Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
title_short	Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
title_full	Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
title_fullStr	Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
title_full_unstemmed	Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report
title_sort	comprehensive genomic characterization of a case of granular cell tumor of the posterior pituitary gland: a case report
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/94c5af30f1824fb198d774373bd5ae74
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Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report

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