Abstract


Germline mutations of the RET proto-oncogene are associated with the pathogenesis of multiple endocrine neoplasia syndromes (MEN2A, MEN2B), Hirschsprung disease, and familiar medullary thyroid carcinoma. Codon C609Y mutation has been reported in the literature to be associated with late onset medullary thyroid carcinoma (MTC), but there are no reports to date on pheochromocytoma as initial presentation.

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Germline mutations of the RET proto-oncogene are associated with the pathogenesis of multiple endocrine neoplasia syndromes (MEN2A, MEN2B), Hirschsprung disease, and familiar medullary thyroid carcinoma. Codon C609Y mutation has been reported in the literature to be associated with late onset medullary thyroid carcinoma (MTC), but there are no reports to date on pheochromocytoma as initial presentation.

We present the case of a 67-year-old woman with history of hyperlipidemia, type 2 diabetes, coronary artery disease, and osteoarthritis, who presented with persistent cough and left-sided chest pain. A computed tomography (CT) of the chest revealed a left upper lobe consolidation consistent with pneumonia and the incidental finding of a right adrenal mass measuring 5.6 x 7.8 cm. Preoperative biochemical screening revealed normal metabolic panel including calcium corrected to albumin and elevated plasma metanephrines: normetanephrine 1.85 nmol/L (normal range 0.00-0.89) and metanephrine 0.55 nmol/L (0.00-0.49) and confirmed with elevated urine metanephrines: metanephrine total 24h: 3098 (152-1775); metanephrine ratio to Creatinine: 680 mcmol/mol CRT (0-172); Normetanephrine per 24h: 1690 (273-3548) with normetanephrine ratio to Cr: 371 mcmol/mol CRT (0-247). After treatment with prazosin, she underwent total right adrenalectomy and was diagnosed with a P2NxM0 pheochromocytoma measuring 10 x 9.5 x 5.5 cm. Due to financial constraints patient declined genetic counseling at the time of diagnosis, but returned 3 years later after several nieces (daughters of a deceased brother) were diagnosed with MEN2A. Patient underwent genetic testing that detected a mutation of RET proto-oncogene p.C609Y: amino acid change: (Cys609Tyr), DNA change: c.1826G>A (g.43609070). Currently she remains asymptomatic, without complains of diaphoresis, headache, chest pain or palpitations; her most recent labs revealed a persistently mild elevation of plasma free metanephrines with negative imaging for metastatic disease (CT chest/abdomen and MIGB). Calcitonin level is within normal limits.

Literature review of codon C609Y mutation of RET proto-oncogene reveals non-aggressive MTC phenotype. To the best of our knowledge, pheochromocytoma as initial presentation of a C609Y mutation has not been previously reported and this is the first case report (1,2). We will continue active biochemical and radiological surveillance as indicated by current guidelines (3). Genetic counseling has been offered to her first-degree relatives.

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