Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0221002 (
primary hyperparathyroidism
)
4,921
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pheochromocytomas are neuroendocrine tumors that can arise sporadically or be inherited as a familial disease, and they may occur in isolation or as part of a multitumor syndrome. Familial disease typically presents in younger patients with a higher risk of multifocality. Recently, the tumor suppressor
MYC
-associated factor X (
MAX
) gene has been implicated as a cause of familial isolated pheochromocytoma and paraganglioma. We describe a patient with a pituitary prolactinoma and bilateral pheochromocytomas who tested positive for a germline
MAX
mutation. Interestingly, the patient also had mild
primary hyperparathyroidism
that resolved upon resection of the pheochromocytomas despite the absence of parathyroid hormone staining in the tumors. To our knowledge, this case is the first report of prolactinoma in a patient with a
MAX
mutation, which suggests the possibility of germline
MAX
mutations also contributing to the development of prolactinomas.
...
PMID:Case Report of a Prolactinoma in a Patient With a Novel
MAX
Mutation and Bilateral Pheochromocytomas. 2926 63
