When a Large Pneumo-Mediastinalneuroendocrine Carcinomareveals a Familial Multiple Endocrine Neoplasia Type 1: A Case Report

Multiple endocrine neoplasia type 1 (MEN1) is an uncommon hereditary condition transmitted in an autosomal dominant pattern, notable for its wide variability in clinical presentation. Neuroendocrine tumors of the bronchi and lungs (bpNETs) usually remain clinically silent and are most frequently identified incidentally on imaging examinations. We report the case of a 43-year-old patient with a history of recurrent renal colic with emission of stone in urine, infertility and family history of tumors in 1st and 2nd degree. He has been followed-up in oncology for a bulky high grade mediastino pulmonary neuroendocrine carcinoma measuring 13 cm in long axis, undergoing chemo-radiotherapy and he has been referred to our department for diagnostic work-up of hypercalcemia, parathyroid in origin, which was discovered by chance during a pre-chemotherapy work-up.Conventional and functional imaging confirmed a right parathyroid adenoma, then the patient benefited from parathyroidectomy. On hypothalamic-pituitary MRI, he had a pituitary macroadenoma measuring 15 mm long. Genetic testing for mutation of the MEN1 gene is in progress. Familial MEN1 is diagnosed when an individual exhibit one of the major clinical features of the syndrome and has a first-degree relative already confirmed with MEN1. Affected patients often face a diminished quality of life and a markedly shorter life expectancy than that of the general population.