PMID- 19491073 OWN - NLM STAT- MEDLINE DCOM- 20100128 LR - 20211203 IS - 1934-2403 (Electronic) IS - 1530-891X (Linking) VI - 15 IP - 6 DP - 2009 Sep-Oct TI - Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation. PG - 567-72 LID - 10.4158/EP09045.CRR1 [doi] AB - 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. FAU - Shih, Roger Y W AU - Shih RY AD - Department of Internal Medicine, United States Air Force Medical Service, Wilford Hall Medical Center, San Antonio, Texas, USA. Roger.Shih3@lackland.af.mil FAU - Fackler, Sarah AU - Fackler S FAU - Maturo, Stephen AU - Maturo S FAU - True, Mark W AU - True MW FAU - Brennan, Joseph AU - Brennan J FAU - Wells, David AU - Wells D LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Endocr Pract JT - Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists JID - 9607439 SB - IM MH - *Adenocarcinoma/genetics/surgery/therapy MH - Female MH - *Gastrinoma/genetics/therapy MH - *Germ-Line Mutation MH - Hispanic or Latino MH - Humans MH - Hyperparathyroidism, Primary/etiology MH - Middle Aged MH - *Multiple Endocrine Neoplasia Type 1/genetics/surgery/therapy MH - *Parathyroid Neoplasms/genetics/surgery/therapy MH - Parathyroidectomy MH - Radiotherapy, Adjuvant MH - Thyroidectomy EDAT- 2009/06/06 09:00 MHDA- 2010/01/29 06:00 CRDT- 2009/06/04 09:00 PHST- 2009/06/04 09:00 [entrez] PHST- 2009/06/06 09:00 [pubmed] PHST- 2010/01/29 06:00 [medline] AID - S1530-891X(20)41366-7 [pii] AID - 10.4158/EP09045.CRR1 [doi] PST - ppublish SO - Endocr Pract. 2009 Sep-Oct;15(6):567-72. doi: 10.4158/EP09045.CRR1.