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

Roger Y.W. Shih, Sarah Fackler, Stephen Maturo, Mark W. True, Joseph Brennan, David Wells

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Objective: To report the case of a patient with multiple endocrine neoplasia type 1 (MEN 1) syndrome with concomitant 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.

Original languageEnglish
Pages (from-to)567-572
Number of pages6
JournalEndocrine Practice
Issue number6
StatePublished - Sep 2009


Dive into the research topics of 'Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation'. Together they form a unique fingerprint.

Cite this