Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation

Adrenocortical carcinoma (ACC) is an aggressive form of cancer that originates in the cortex of the adrenal gland; the incidence of ACC is 1.5 to 2 cases per million people per year. ACCs are rare and mostly sporadic. A small proportion of ACC cases are associated with hereditary cancer syndromes. H...

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Autores principales: Xie, Changqing, Tanakchi, Sally, Raygada, Margarita, Davis, Jeremy L, Del Rivero, Jaydira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320243/
https://www.ncbi.nlm.nih.gov/pubmed/30623166
http://dx.doi.org/10.1210/js.2018-00343
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author Xie, Changqing
Tanakchi, Sally
Raygada, Margarita
Davis, Jeremy L
Del Rivero, Jaydira
author_facet Xie, Changqing
Tanakchi, Sally
Raygada, Margarita
Davis, Jeremy L
Del Rivero, Jaydira
author_sort Xie, Changqing
collection PubMed
description Adrenocortical carcinoma (ACC) is an aggressive form of cancer that originates in the cortex of the adrenal gland; the incidence of ACC is 1.5 to 2 cases per million people per year. ACCs are rare and mostly sporadic. A small proportion of ACC cases are associated with hereditary cancer syndromes. Here, we present a case of ACC with a pathogenic heterozygous germline deletion in CHEK2 (c.1100delC). This is, to our knowledge, the first report of a patient with ACC associated with a CHEK2 germline deletion.
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spelling pubmed-63202432019-01-08 Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation Xie, Changqing Tanakchi, Sally Raygada, Margarita Davis, Jeremy L Del Rivero, Jaydira J Endocr Soc Case Report Adrenocortical carcinoma (ACC) is an aggressive form of cancer that originates in the cortex of the adrenal gland; the incidence of ACC is 1.5 to 2 cases per million people per year. ACCs are rare and mostly sporadic. A small proportion of ACC cases are associated with hereditary cancer syndromes. Here, we present a case of ACC with a pathogenic heterozygous germline deletion in CHEK2 (c.1100delC). This is, to our knowledge, the first report of a patient with ACC associated with a CHEK2 germline deletion. Endocrine Society 2018-12-12 /pmc/articles/PMC6320243/ /pubmed/30623166 http://dx.doi.org/10.1210/js.2018-00343 Text en Copyright © 2019 Endocrine Society https://creativecommons.org/licenses/by-nc-nd/4.0/ This article has been published under the terms of the Creative Commons Attribution Non-Commercial, No-Derivatives License (CC BY-NC-ND; https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Xie, Changqing
Tanakchi, Sally
Raygada, Margarita
Davis, Jeremy L
Del Rivero, Jaydira
Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
title Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
title_full Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
title_fullStr Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
title_full_unstemmed Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
title_short Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation
title_sort case report of an adrenocortical carcinoma associated with germline chek2 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320243/
https://www.ncbi.nlm.nih.gov/pubmed/30623166
http://dx.doi.org/10.1210/js.2018-00343
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