Endocrine Abstracts (2009) 20 P211

Clinical feature and genetic testing in patients with multiple endocrine neoplasia syndrome type 2

Elwira Przybylik-Mazurek1, Alicja Hubalewska-Dydejczyk11, Dorota Pach1, Sylwia Kuzniarz1, Barbara Jarzab2, Elzbieta Gubala2, Agnieszka Pawlaczek2 & Malgorzata Oczko-Wojciechowska2


1Chair and Department of Endocrinology, Collegium Medicum, Jagiellonian University in Kraków, Krakow, Poland; 2Department of Nuclear Medicine and Endocrine Oncology, Maria Skodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.


Background: Multiple endocrine neoplasia syndrome type 2 (MEN2) is a rare disease characterised by inherence in each patient medullary thyroid carcinoma (MTC), pheochromocytoma and in type MEN 2a primary hyperparathyroidism, in type MEN2b marfanoid habitus and neurofibromas. Mutation in RET proto-oncogene at chromosome 10 is a molecular cause of MEN2 syndrome.

Methods: Eighteeen patients with MEN2 syndrome were enrolled: (10 women and 8 men) mean age 22±7 years. An average follow-up period was 10±9 years. Every patient was examined by the thyroid gland ultrasonography and computed tomography of the abdomen. TSH, fT4 and fT3, PTH, calcium and calcitonin serum level were measured. Also methoxycatecholamines in urine and genetic testing were undertaken. Furthermore, scintigraphy scans were performed (SRS, DMSA, MIBG).

Results: Multiple endocrine neoplasia syndrome type 2 was primary diagnosed in 7 patients and the rest 11 patients had MEN2 diagnosed because of positive genetic findings. Currently 5 patients are in remission of disease after the thyroid gland surgery and do not reveal symptoms of pheochromocytoma so far. Rest of patients, even though early diagnosis was established and the operation was performed in preclinical stadium, have MTC relapse and symptoms of pheochromocytoma. Two patients with MEN2b syndrome died because of progression and complication.

Conclusions: The first symptom, both of MEN2a and 2b syndrome is MTC, but the cause of the first consultation are symptoms related to pheochromocytoma. Early treatment based on genetic tests improve asymptomatic survival and extend remission period. The prognosis in MEN2b is worse than in MEN2a syndrome.

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