Pheochromocytoma: Inherited associations, bilaterality, and cortex preservation

Background. Hereditary pheochromocytoma (HP) is characterized by early onse t, bilateral adrenal involvement, low malignancy rate, and genetic linkage with certain familial syndromes. This retrospective review is intended to s how the high yield of surveillance, predictable bilaterality, and the chall enge of cortex-sparing adrenalectomy. Methods. Front 1964 to 1999, 32 patients with HP were treated at a single i nstitution and followed for a: mean of 7 years. There were 15 cases of mult iple endocrine neoplasia type 2A (MEN 2A), 12 cases of von Hippel-Lindau (V HL) disease, 3 cases of von Recklinghausen's disease (VRD), and 2 cases of familial pheochromocytoma. Twenty-four of 32 patients underwent bilateral a drenalectomy (9 metachronous). Subtotal resection with orthotopic cortex pr eservation was performed in 5 patients, and heterotopic autografting was pe rformed in 14 patients. Results. Pheochromocytoma was the first manifestation in 50% of patients wi th VHL disease and in 27% of patients with MEN 2A. Surveillance uncovered m edullary thyroid cancer in 5 of 15 patients with MEN 2A and hemangioblastom as, renal cell carcinoma, and islet cell tumors in 7 of 15 patients with VH L disease and VRD. HP was bilateral in 24 of 32 patients (14/15 in patients with MEN 2A, 7/12 in patients with VHL disease, 2/3 in patients with VRD, and 1/2 in patients with familial pheochromocytoma). In 9 cases of metachro nous adrenalectomy, the mean interval was 67 months (range, 9-156 months). Three of 5 patients who underwent orthotopic preservation of the adrenal co rtex experienced recurrence compared with 0 of 14 patients with heterotopic autotransplantation of cortical tissue. Conclusions. Pheochromocytoma frequently heralds coexisting silent VHL dise ase or MEN-2 mandating surveillance for inherited associations. The long in terval of metachronous pheochromocytoma argues against prophylactic removal of the contralateral "normal" adrenal gland. Total adrenalectomy and heter otopic autotransplantation of medulla-free cortex may diminish the need for lifelong steroid substitution and eliminates recurrence.