Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.
Am J Med Genet A
; 185(4): 1282-1287, 2021 04.
Article
in En
| MEDLINE
| ID: mdl-33615670
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Colorectal Neoplasms, Hereditary Nonpolyposis
/
Adrenocortical Carcinoma
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Multiple Endocrine Neoplasia Type 2a
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MutS Homolog 2 Protein
/
Proto-Oncogene Proteins c-ret
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2021
Type:
Article
Affiliation country:
United States