Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
Front Endocrinol (Lausanne)
; 13: 1024108, 2022.
Article
in En
| MEDLINE
| ID: mdl-36440216
ABSTRACT
Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions. Cases of two sisters carrying a germline CHEK2 variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis. CHEK2 (also referred to as CHK2) loss of function has been firmly associated with breast cancer development. In this case report, two siblings with a germline CHEK2 mutation also had distinct endocrine tumors. Pituitary adenoma and pancreatic neuroendocrine tumor (PNET) was found in the first sibling and pheochromocytoma (PCC) discovered in the second sibling. Although pituitary adenomas, PNETs, and PCC have been associated with NF1 gene mutations, the second sister with a PCC did have proven germline CHEK2 with a pathogenic somatic NF1 mutation. We highlight the clinical point that unless the tumor is sequenced, the real driver mutation that is causing the patient's tumor may remain unknown.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pheochromocytoma
/
Pituitary Neoplasms
/
Adrenal Gland Neoplasms
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
Language:
En
Journal:
Front Endocrinol (Lausanne)
Year:
2022
Document type:
Article
Affiliation country:
United States