Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation.
OBJECTIVE
To report the case of a patient with multiple endocrine neoplasia type 1 (MEN 1) syndrome with con-comitant parathyroid carcinoma and a classic MEN1 germline mutation.


METHODS
We present the clinical findings, laboratory results, imaging studies, and surgical histopathologic features in a woman with MEN 1 syndrome and concomitant parathyroid carcinoma. We also review the literature regarding patients with similar clinical entities and the use of adjuvant radiotherapy for parathyroid carcinoma.


RESULTS
A 53-year-old woman presented with nausea and severe primary hyperparathyroidism. Computed tomography revealed parathyroid masses, shown later to be bilateral parathyroid carcinomas and adenomas. Magnetic resonance imaging demonstrated a pituitary macroadenoma, and gastrinomas were confirmed by computed tomography and a secretin stimulation test. She was successfully treated with total thyroidectomy, subtotal parathyroidectomy, and adjuvant radiotherapy. Genetic analysis revealed a classic MEN1 germline mutation.


CONCLUSIONS
This report describes a patient with parathyroid carcinoma occurring in conjunction with MEN 1, further characterizing this rare condition. In contrast to previously described patients, our patient is the first with a classic MEN1 germline mutation, confirming that parathyroid cancer can occur in association with classic MEN 1 genetics.
Shih
Roger Y W
RY
Department of Internal Medicine, United States Air Force Medical Service, Wilford Hall Medical Center, San Antonio, Texas, USA. Roger.Shih3@lackland.af.mil
Fackler
Sarah
S
Maturo
Stephen
S
True
Mark W
MW
Brennan
Joseph
J
Wells
David
D
D000230:Adenocarcinoma / Q000235:genetics / Q000601:surgery / Q000628:therapy; D005260:Female; D015408:Gastrinoma / Q000235:genetics / Q000628:therapy; D018095:Germ-Line Mutation; D006630:Hispanic or Latino; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000209:etiology; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000601:surgery / Q000628:therapy; D010282:Parathyroid Neoplasms / Q000235:genetics / Q000601:surgery / Q000628:therapy; D016105:Parathyroidectomy; D018714:Radiotherapy, Adjuvant; D013965:Thyroidectomy