A 56-year-old man with a history of hypertension and panic attacks for 30 years presented with increasing palpitations, especially after strenuous activity, that had already lasted for 1 year. Initial assessment with an echocardiogram showed a right atrial mass. Subsequent imaging revealed a right adrenal mass extending into the renal vein, inferior vena cava, and right atrium (fi gure). We identifi ed no evidence of distant metastatic disease by 18F-fl uorodeoxyglucose PET-CT imaging. Through biochemical analysis, we confi rmed the diagnosis of phaeochromocytoma, with plasma-free normetanephrine at a concentration of 13 936 pg/mL (normal range 0–145 pg/mL) and metanephrines at a concentration of 129 pg/mL (normal range is 0–62 pg/mL). After treatment with α-blockers, a right atriotomy and venotomy of the inferior vena cava with en-bloc resection of the primary tumour, including intracaval and intraatrial segments, was done. Pathology analysis confi rmed phaeo chromocytoma (TNM stage pT3 pNX pMX) extending into the inferior vena cava and right atrium, and invading the adrenal capsule and periadrenal fat with margins free of tumour. A Pheochromocytoma of the Adrenal Gland Scaled Score of 11 suggested malignancy. Early surgical cure was confi rmed by normal biochemical testing 8 months after surgery. In view of low clinical suspicion of multiple endocrine neoplasia type 2 or neurofi bromatosis type 1, we initiated genetic testing sequentially for Von Hippel–Lindau disease, the result of which was negative. Subsequently, mutational analysis of the succinate dehydrogenase gene was planned, but the patient was lost to follow-up. This case shows a haematogenously invasive phaeo chromocytoma without evidence of distant metastases to confi rm malignancy. Although phaeochromocytomas with cavo–atrial extension are rarely described in the medical literature, the disorder is commonly seen in patients with renal cell carcinoma. About 10% of phaeochromocytomas are malignant, and malignancy is most common in patients with SDHB mutations. Surgery is seldom curative. Vascular invasion, mitotic activity, and cellular atypia might suggest aggressive tumour behaviour, but cannot defi nitively predict metastatic potential. Metastases are typically used to diagnose malignancy, but no molecular or histological markers exist to confi rm a malignant phaeochromocytoma. After 30 years of symptoms related to the phaeo chromocytoma, this patient had no metastases, despite surgical pathology fi ndings suggestive of malignancy. Early surgical remission is promising, although the patient will need lifelong monitoring for recurrence.
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Jun 25, 2017
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