Endocrine Abstracts

Multiple endocrine neoplasia type 2A (MEN2A) is an inherited syndrome caused by the mutation of RET gene. The classic variant of this syndrome includes the presence of medullary thyroid carcinoma (MTC), in association with pheochromocytoma and parathyroid neoplasia. MTC is usually the first presentation, with palpable neck mass and hypercalcitonemia, metastatic spread to local lymph nodes or distant sites.

We report the case of a 41 year old Caucasian man who underwent colorectal surgery for stage IV rectal adenocarcinoma with liver metastases, confirmed by the anatomopathological report. The postoperative evolution was complicated with recurrent hypertensive episodes controlled with medication. An abdominal CT was performed which described multiple bilateral adrenal masses. Hormonal assessment revealed significantly high levels of urinary metanephrines (12.52 μmol/24 h, normal range <1.62), normetanephrines (11.72 μmol/24 h, normal range <2.13) and calcitonin (>2000 pg/ml, normal range <18.2). Serum calcium was increased (5.36 mEq/l, normal range 3.5–4.5) and iPTH was to the upper limit (73.97 pg/ml, normal range 14–73). Thyroid ultrasound showed hypodense, irregular macronodules (2.3/1.8 cm, respective 1.34/1.45 cm) in both lobes, with microcalcifications and intranodular intense vascularization on Doppler screen, and laterocervical limfonodules with the same characteristics. After bilateral adrenalectomy (with the removal of left adrenal gland and kidney in block for macroscopic capsule penetration and extension to the surrounding adipose tissue), the patient underwent total thyroidectomy with neck dissection and bilateral inferior parathyroidectomy. The histopathological exam confirmed bilateral pheocromocytoma with extracapsular extension with possible malignancy (PASS score >4), MTC with limph node metastasis and parathyroid hyperplasia. Genetic testing revealed the heterozygote mutation of codone 634 (Cys634Trp). Actually the simptomatology of his non-endocrine tumor led to the diagnosis of the second severe condition - a multiglandular endocrine tumor syndrome.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.