D. Abraham1, A. Cherian1, R. Pai2, S. Chakravarthy1, P. Jacob1 1Christian Medical College, Vellore,Endocrine Surgery,Vellore, TAMIL NADU, India 2Christian Medical College, Vellore,Molecular Pathology,Vellore, TAMIL NADU, India
Introduction: The management of medullary carcinoma thyroid (MTC) has evolved to incorporate gene testing. We conducted this study to evaluate the impact of RET mutation testing in the management of MTC.
Methods: Retrospective study of data between January 2008 and December 2015 from the computerised hospital information system was analysed using STATA (v.10).
Results: MTC accounted for 89/1877(4.7%) patients with thyroid cancer. The mean age of presentation was 39.6 years (range of 14-70) with M:F=48:41. Three patients presented with a pheochromocytoma, four were screen detected and the remaining had goitre. FNAC was diagnostic in 67.6% while calcitonin was elevated in 94.9%.RET testing was performed in 69 patients, 24 were positive (34.8%).Seventeen relatives of ten index patients were screened and twelve were RET positive. Patients with hereditary MTC were younger (34.9 vs 39.3) with a female preponderance (M:F = 8:16).Prophylactic thyroidectomy was performed in 3 patients. All patients underwent primary surgery. Persistent hypercalcitoninemia (calcitonin > 50pg/ml) was observed in 50/78(64.1%). Of these, 41 patients underwent metaiodobenzylguanidine scan, three were positive. The median duration of follow up was 14 months. Twelve patients were lost to follow up and two patients succumbed to their disease.
Conclusion: MTC accounts for 5% of thyroid carcinoma in our series. Hereditary MTC presents at an earlier age than the sporadic type with afemale preponderance. RET screening should be performed for all patients with MTC as they may be the index case and prophylactic surgery may be offered for those children testing positive.