Endocrine Abstracts

Introduction

Pheochromocytoma is rare neuroendocrine tumor arising from the chromaffin cells of the adrenal medulla. It can be even sporadic or take part of inherited syndromes.

Observation

We report the case of a young 32 year-old woman followed by her oncologist for medullary thyroid cancer treated with surgery and radiotherapy. On the examination of the removed tissue, there was a bilateral cancer, measuring 30 mm in diameter on the right lobe and 40 mm in diameter on the left lobe of the thyroid, associated to a parathyroid hyperplasia. As part of the assessment of the extent of extra-thyroidal extension of the cancer, the CT-scan showed a multiple bilateral adrenal masses, with a spontaneous density b 10 UH, 15 mm in diameter on the right gland, and two masses on the left gland ; 13 mm and 8 mm respectively. The patient was asymptomatic with normal tension and absence of any abnormalities in the examination. First, the adrenal insufficiency was eliminated, then the hormonal exploration revealed a pheochromocytoma (urinary normetanephrine 436 nmol/creat, urinary metanephrine 618 nmol/creat, two-fold and five-fold the upper normal limit respectively). The 123I-MIBG-Scintigraphy was in favor of a bilateral pheochromocytoma without any other locations. The patient was presented for bilateral adrenalectomy. Meanwhile, the genetic diagnosis of the mutations in the RET proto-oncogene (chromosome 10) is being tested.

Conclusion

This case describes a condition named multiple endocrine neoplasia type 2A (MEN 2A), where medullary thyroid cancer is present in 98-100% of cases, parathyroid hyperplasia in 5–10% and pheochromocytoma in 50% ; among them more than 60% are bilateral. The MEN 2A is a genetic condition which follows an autosomal dominant inheritance pattern. Our patient didn’t have any similar cases in her family which make her a part of less than 5% of people with MEN 2A thought to have a novo mutation. Genetic screening of family members of MEN 2A is an early detection tool allowing to predict phenotypic characteristics and the association to other endocrinopathies, by detecting the specific RET mutation.