Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET

Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li‐Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous pol...

Descripción completa

Detalles Bibliográficos
Autores principales: Raygada, Margarita, Raffeld, Mark, Bernstein, Andrew, Miettinen, Markku, Glod, John, Hughes, Marybeth S., Reilly, Karlyne, Widemann, Brigitte, Del Rivero, Jaydira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986073/
https://www.ncbi.nlm.nih.gov/pubmed/33615670
http://dx.doi.org/10.1002/ajmg.a.62099
_version_ 1783668369222795264
author Raygada, Margarita
Raffeld, Mark
Bernstein, Andrew
Miettinen, Markku
Glod, John
Hughes, Marybeth S.
Reilly, Karlyne
Widemann, Brigitte
Del Rivero, Jaydira
author_facet Raygada, Margarita
Raffeld, Mark
Bernstein, Andrew
Miettinen, Markku
Glod, John
Hughes, Marybeth S.
Reilly, Karlyne
Widemann, Brigitte
Del Rivero, Jaydira
author_sort Raygada, Margarita
collection PubMed
description Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li‐Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. We present here a case of ACC with both LS and MEN2A; the family and medical history were consistent with Lynch. This is, to our knowledge, the first report of a patient with ACC associated with germline mutations in RET and MSH2, and no phenotypical characteristics of MEN2A.
format Online
Article
Text
id pubmed-7986073
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher John Wiley & Sons, Inc.
record_format MEDLINE/PubMed
spelling pubmed-79860732021-03-25 Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET Raygada, Margarita Raffeld, Mark Bernstein, Andrew Miettinen, Markku Glod, John Hughes, Marybeth S. Reilly, Karlyne Widemann, Brigitte Del Rivero, Jaydira Am J Med Genet A Clinical Reports Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li‐Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. We present here a case of ACC with both LS and MEN2A; the family and medical history were consistent with Lynch. This is, to our knowledge, the first report of a patient with ACC associated with germline mutations in RET and MSH2, and no phenotypical characteristics of MEN2A. John Wiley & Sons, Inc. 2021-02-21 2021-04 /pmc/articles/PMC7986073/ /pubmed/33615670 http://dx.doi.org/10.1002/ajmg.a.62099 Text en © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Clinical Reports
Raygada, Margarita
Raffeld, Mark
Bernstein, Andrew
Miettinen, Markku
Glod, John
Hughes, Marybeth S.
Reilly, Karlyne
Widemann, Brigitte
Del Rivero, Jaydira
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET
title Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET
title_full Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET
title_fullStr Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET
title_full_unstemmed Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET
title_short Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET
title_sort case report of adrenocortical carcinoma associated with double germline mutations in msh2 and ret
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986073/
https://www.ncbi.nlm.nih.gov/pubmed/33615670
http://dx.doi.org/10.1002/ajmg.a.62099
work_keys_str_mv AT raygadamargarita casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT raffeldmark casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT bernsteinandrew casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT miettinenmarkku casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT glodjohn casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT hughesmarybeths casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT reillykarlyne casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT widemannbrigitte casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret
AT delriverojaydira casereportofadrenocorticalcarcinomaassociatedwithdoublegermlinemutationsinmsh2andret

Ejemplares similares