Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation.

Abstract

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.

CONCLUSION:

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.

• Authors: Roger Y W Shih, Sarah Fackler, Stephen Maturo, Mark W True, Joseph Brennan, David Wells
• Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists (Endocr Pract) 2009 Sep-Oct Vol. 15 Issue 6 Pg. 567-72 ISSN: 1934-2403 [Electronic] United States
• PMID: 19491073 (Publication Type: Case Reports, Journal Article)

Topics

• Adenocarcinoma (genetics, surgery, therapy)
• Female
• Gastrinoma (genetics, therapy)
• Germ-Line Mutation
• Hispanic or Latino
• Humans
• Hyperparathyroidism, Primary (etiology)
• Middle Aged
• Multiple Endocrine Neoplasia Type 1 (genetics, surgery, therapy)
• Parathyroid Neoplasms (genetics, surgery, therapy)
• Parathyroidectomy
• Radiotherapy, Adjuvant
• Thyroidectomy