MULTIPLE SURGERIES AND LONG-TERM ENDOCRINE FOLLOW-UP IN MEN 2A SYNDROME

CLINICAL CASE

Abstract

MEN2A (Multiple Endocrine Neoplasia type 2) syndrome, an autosomal dominant condition, requires multiple surgeries in order to prevent or treat different tumours that are related to RET proto-oncogene mutations. Early intervention is most useful in cases with prior genetic confirmation. This is a case report presenting a long medical history of a female suffering of MEN2A syndrome. A 44-year-old woman, with a large family history of different endocrine cancers but no gene testing, is diagnosed at the age of 31 with a thyroid nodule of 1.7 centimeters (cm) which is removed by a partial thyroidectomy. Medullary thyroid cancer (MTC) is confirmed and calcitonin is found high. Total thyroidectomy is performed without consecutive normalization of calcitonin and secondary persistent post-operatory hypoparathyroidism. 6 months later a right laparoscopic adrenalectomy is performed for a pheochromocytoma (Pheo) of 5.2 cm. Despite normal levels of metanephrines and normetanephrines, a left adrenal tumor of 1.5 cm is discovered one year later. One decade later, the blood calcitonin progressively increased and 41 lymph nodes from latero-cervical areas and central neck compartment were removed. 14 of them had MTC metastases. 8 months later, typical endocrine profile suggested a Pheo and laparoscopic left adrenalectomy is performed with chronic adrenal insufficiency needing lifelong hydrocortisone and fludrocortisone replacements. The MEN2A syndrome-related multiple surgeries are correlated with long-term endocrine follow-up in challenging cases such as ours requiring a multi-disciplinary approach. The lack of gene mutation identification during childhood or at close relatives delays the diagnosis and thus the potential curative surgical removal of the thyroid and adrenal tumours with a more severe prognosis.