The dilemma of medullary carcinoma patients

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 414-428-Thyroid Neoplasia & Case Reports
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-427
Gonca Oruk*1, Mithat Bahceci2, Ahmet Gorgel2, Devrim Dolek Cetinkaya2, Mustafa Demirpence2 and Fusun Salgur2
1Izmir Katip Celebi University Ataturk Training and Research Hos, Izmir, Turkey, 2Izmir Katip Celebi University Ataturk Training and Research Hospital, Izmir, Turkey
Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy with the potential for aggressive behavior. Hereditary medullary thyroid carcinoma is also  rare, accounting for 25-30% of all MTC. It occurs as part of multiple endocrine neoplasia type 2 (MEN 2). Autosomal dominant mutations in the RET proto-oncogene is the cause of the disease, in which the common mutations are codons 609, 611, 618, 620, 630, 634 and 918. Multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2B are collectively associated with a 70-100% risk of medullary thyroid carcinoma by age 70 years. Pheochromocytomas are identified in 50% of individuals with multiple endocrine neoplasia type 2A and multiple endocrine neoplasia type 2B. Furthermore, those with multiple endocrine neoplasia type 2A have a 20-30% risk for primary hyperparathyroidism. We present the data of 12 medullary carcinoma patients. All of the patients were also investigated for pheochromocytoma. 7 of them are sporadic. MTC was not discovered in the other family members during screening. 7 of them are in remission. One of the sporadic patients; a  76 years old male patient was diagnosed as medullary carcinoma together with a papillary carcinoma. He has been operated and treated with adjuvan chemotherapy. Calcitonin levels are still high. Also 41 and 56 years old male patients were treated with operation and radiotherapy for metastatic disease. There are 2 families diagnosed with multiple endocrine neoplasia (4 female, 1 male). First family: mother, her brother and daughter have medullary thyroid carcinoma together with pheochromocytoma, mother and her daughter are operated and in remisssion. But the brother is still being followed with high calcitonin levels after the operation. In the second family mother and the daughter have MTC. The daughter is in remission, but the mother is still being followed for metastatic disease. RET mutation was detected in both of the families. As a result it can be concluded that diagnosis and treatment is of MTC is challenging. Clinical recognition and accurate diagnosis of individuals and families who are at risk of harboring a germline RET mutation is critical for the prevention and management of potentially life-threatening neoplasms.

Nothing to Disclose: GO, MB, AG, DD, MD, FS

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