ECE2015 Eposter Presentations Clinical Cases–Thyroid/Other (101 abstracts)
Medullary thyroid carcinoma in multiple endocrine neoplasia 2A: a therapeutic challenge
Luis Cardoso 1 , Dírcea Rodrigues 1, , Gracinda Costa 2, , Carolina Moreno 1, , Daniela Guelho 1 , Nuno Vicente 1 , Margarida Balsa 4 , Diana Martins 1 , Diana Oliveira 1 & Francisco Carrilho 1
1Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 2Faculty of Medicine, University of Coimbra, Coimbra, Portugal; 3Department of Nuclear Medicine, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 4Department of Endocrinology, Centro Hospitalar do Baixo Vouga, Aveiro, Portugal.
Introduction: Medullary thyroid carcinoma (MTC) occurs in a hereditary pattern in 25% of cases. Virtually all patients with multiple endocrine neoplasia 2A (MEN2A) develop MTC. MTC aggressiveness and natural history varies according to the RET mutation. Prophylactic thyroidectomy may cure and/or prevent metastatic disease in most cases.
Case report: A 27-year-old man with past history of colostomy at 5 months of age for Hirschsprung disease and total thyroidectomy at age of 14 years old for the genetic diagnosis of MEN2A (C620R RET). Patient’s underwent genetic study when his mother was diagnosed with MTC and a germline mutation in RET gene (C620R) was identified. Patient’s post-operative histological diagnosis revealed two MTC foci of 1 and 0.3 cm. Patient was lost to follow-up at the age of 16. In the last year he reported low back pain radiated to right thigh. MRI showed a 9×5×8 cm mass in the right iliac bone and lesion biopsy was compatible with MTC metastasis. 68Ga-DotaNoc PET showed uptake in the thyroid area, left para-pharyngeal region, high density of somatostatin receptors in the left cervical region and right iliac bone. Biochemical analysis revealed thyroglobulin of <0.2 ng/ml (1.6–60.0), calcitonin of 60.428 pg/ml (<10), and CEA of 1.947 ng/ml (<5.4). Patient underwent bilateral cervical lymph node dissection and subtotal resection of iliac metastasis. Histological examination confirmed MTC metastasis. Patient underwent a cycle of 200 mCi of 177Lu-DotaTate, though low radionuclide uptake motivated its withdrawal. Patient showed increased uptake of 123I-MIBG and treatment with 131I-MIBG was started (154 mCi).
Conclusion: CMT is the first manifestation of MEN2A. As shown in this case the age of prophylactic thyroidectomy is of decisive importance to the prognosis. Tumour somatostatin receptors heterogeneity may be responsible for different responses to radionuclides. The treatment of metastatic disease is challenging due to the poor response to systemic therapy and/or radiotherapy.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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