Multiple endocrine neoplasia type 2 b MEN 2

Multiple endocrine neoplasia type 2 b (MEN 2 B) syndrome in a young man I. Konrade 1, 2, I. Tonne 1, 2, S. Upmale 1, 2 1 Riga Stradins University, Faculty of Continuing Education 2 Riga East Clinical University Hospital INTRODUCTION Multiple endocrine neoplasia type 2 b (MEN 2 B) is a rare syndrome, caused by RET protooncogene mutations (See Figure 1). MEN 2 B causes: ü Medullary thyroid carcinoma (MTC), ü Pheochromocytoma ü Unique physical characteristics (mucosal neurinomas, distinctive facial appearance, and Marfanoid habitus). Most patients have abdominal symptoms such as bloating and intermittent diarrhea. MTC is the most important determinant of mortality. PAPER ID: 24420 INVESTIGATIONS & MANAGEMENT Ø High calcitonine levels persisted after the operation. Scintigraphy, SPECT/CT and PET were performed, but no dissemination was found. Ø After 2 years the patient came back to an endocrinologist complaining of back pain → a CT scan was done and a 1 x 3 cm lesion above the left adrenal was found. → Pheochromocytoma was suspected (although catecholamine levels in 24 h urine were not elevated). Ø Immune trombocytopenia was found, which was compensated after methylprednisolone pulse therapy. Ø During operation a lesion distinct from left adrenal was found, hystologically – ganglioneurinoma. Ø Calcitonin level remains elevated – 518 pg/m. L (See Figure 2). It is planned to do a FNA of a lymphnode with calcitonin detection, although CT, ultrasound of the neck and SPECT/CT did not reveal suspicious lymphadenopathy. Figure 1. RET proto-oncogene and codon abnormalities associated with MEN 2 syndromes. ³ CASE PRESENTATION Ø A-16 -year-old patient visited family doctor due to pain in his neck → ultrasound showed suspicious thyroid nodule (See Picture 1) → refferal to an endocrinologist → FNA revealed atypical cells + high calcitonine level (790 pg/ml). Picture 1. USG Thyroid - Hypoechogenic nodule 1. 7 x 1. 1 x 2. 3 cm with asymmetric calcifications, mixed type vascularisation. 900 800 700 Ø Hystological diagnosis – Medullary thyroid carcinoma (MTC). PATIENT HISTORY Physical exam: ü Typical Marphanoid phenotype; ü Accented large lips; ü Thick eyelids. Ø History of surgical excision of multiple gingival and mucosal neurinomas. Ø During childhood the patient was repeatedly examined in pediatric hospital due to low body weight, short stature and recurrent gastroduodenitis. Ø Genetic testing revealed RET gene mutation and MEN 2 B syndrome was established. ³http: //www. endocrinesurgery. net. au/men-syndrome-genetics/ 734 621 595 600 475 500 518 565 616 400 300 200 100 pg/ml Ø Total thyroidectomy and neck limfadenectomy was done. 790 0 8, 5 2016 (surgery) 8, 5 2017 Normal calcitonin level 2018 2019 Calcitonin levels Figure 2. Calcitonin levels before and after thyroidectomy. CONCLUSIONS ü Early recognition of the phenotype of MEN 2 B syndrome is crucial to perform a prophylactic or curative thyroidectomy. ü The mucosal neuromas, which are usually present from infancy, are a particularly important characteristic.