Exploring Multiple Endocrine Neoplasia Type 2B: Key Findings from a Case Report

Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant syndrome primarily caused by the germline M918T RET mutation. It is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PC), and non-endocrine features. Symptoms depend on the glandular elements present. The initial diagnosis of MEN 2B is relatively late, and the diagnosis by non-endocrine components is extremely weak. The initial management consists of a total thyroidectomy with dissection of the lymph nodes. If PC is present, its treatment is surgical removal, which should be performed before thyroidectomy for MTC. The prognosis of MTC in MEN 2B depends on the stage at diagnosis, and only early diagnosis and intervention offer a chance of cure. It is necessary to underline the need to treat the extra-endocrine signs in these patients. We present below a case of MEN 2B who consulted late for a cervical tumor and morphological abnormalities of the lips and tongue.