Introduction: Pheochromocytoma is a rare catecholamine-secreting tumor that arises from the chromaffin tissue of the adrenal medulla. Of the reported cases, only 10% consist in bilateral lesions and the probability of multiple endocrine neoplasia should always be investigated.
Clinical case: Female patient, 19 years old, presented with a clinical history with 2 years of evolution, characterized by episodes of palpitations, headache, nausea and abdominal discomfort.
Because of persistent abdominal pain, it was performed ultrasound study that showed bilateral cystic perirenal lesions and after that, abdominal CT confirmed cystic adrenal formations, with multiple septations, the right with 11.3 cm and the left with 7.8 cm of larger diameter, without infiltrative aspects.
The complementary diagnostic exams revealed: serum metanephrines 7386.4 pg/ml (<60), calcitonin 55 pg/ml (<10) and PTH 41 pg/ml (972). The 123I-MIBG scintigraphy showed massive bilateral pheochromocytomas and abnormal fixation on the topography of the left thyroid lobe and cervical plus thoracic CT indicated the presence of a thyroid nodule on the left lobe, with larger diameter 1.1 cm, without evidence of other lesions. Thyroid fine-needle aspiration biopsy was performed, with pathological results compatible with medullary carcinoma.
Patient underwent bilateral laparoscopic adrenalectomy and after that, total thyroidectomy with central lymph node dissection, both without complications. Anatomopathological study revealed bilateral benign pheochromocytoma (Ki67 2%) and medullary carcinoma of the thyroid T1bN0M0;R0.
Genetic analysis confirmed mutation c.2080 T> C in exon 11 of the RET gene, consistent with a diagnosis of MEN2A. The genetic study of relatives in the first degree was negative.
Currently, the patient is clinically and analytically stable and presented: calcitonin <2.0 pg/ml (<10), PTH 32 pg/ml (972), calcium 9.5 mg/dl (8.810.6) and serum metanephrines 47.2 pg/ml (<60).
Conclusions: This report illustrates an uncommon case of massive bilateral cystic pheocromocitomas in a young patient. In the presence of bilateral adrenal tumors and young age, multiple endocrine neoplasia probability is higher, and should be carried out biochemical, imaging and genetic investigation. If confirmed, genetic evaluation of first-degree relatives should be performed. Furthermore, because of the high possibility of recurrence, these patients should maintain close and long-term monitoring.
17 - 19 Feb 2016
European Society of Endocrinology