Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.
Adrenocortical Carcinoma
/ complications
Colorectal Neoplasms, Hereditary Nonpolyposis
/ complications
Female
Genetic Predisposition to Disease
Germ-Line Mutation
/ genetics
Humans
Male
Middle Aged
Multiple Endocrine Neoplasia Type 2a
/ complications
MutS Homolog 2 Protein
/ genetics
Pedigree
Proto-Oncogene Proteins c-ret
/ genetics
Lynch syndrome
adrenocortical cancer
multiple endocrine neoplasia type 2A
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
27
12
2020
received:
11
11
2020
accepted:
09
01
2021
pubmed:
23
2
2021
medline:
4
8
2021
entrez:
22
2
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33615670
doi: 10.1002/ajmg.a.62099
pmc: PMC7986073
doi:
Substances chimiques
Proto-Oncogene Proteins c-ret
EC 2.7.10.1
RET protein, human
EC 2.7.10.1
MSH2 protein, human
EC 3.6.1.3
MutS Homolog 2 Protein
EC 3.6.1.3
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1282-1287Informations de copyright
© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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