Inabnet W B, Caragliano P, Pertsemlidis D
Department of Surgery, Mount Sinai Medical Center, New York, NY, USA.
Surgery. 2000 Dec;128(6):1007-11;discussion 1011-2. doi: 10.1067/msy.2000.110846.
Hereditary pheochromocytoma (HP) is characterized by early onset, bilateral adrenal involvement, low malignancy rate, and genetic linkage with certain familial syndromes. This retrospective review is intended to show the high yield of surveillance, predictable bilaterality, and the challenge of cortex-sparing adrenalectomy.
From 1964 to 1999, 32 patients with HP were treated at a single institution and followed for a mean of 7 years. There were 15 cases of multiple endocrine neoplasia type 2A (MEN 2A), 12 cases of von Hippel-Lindau (VHL) disease, 3 cases of von Recklinghausen's disease (VRD), and 2 cases of familial pheochromocytoma. Twenty-four of 32 patients underwent bilateral adrenalectomy (9 metachronous). Subtotal resection with orthotopic cortex preservation was performed in 5 patients, and heterotopic autografting was performed in 14 patients.
Pheochromocytoma was the first manifestation in 50% of patients with VHL disease and in 27% of patients with MEN 2A. Surveillance uncovered medullary thyroid cancer in 5 of 15 patients with MEN 2A and hemangioblastomas, renal cell carcinoma, and islet cell tumors in 7 of 15 patients with VHL 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 metachronous adrenalectomy, the mean interval was 67 months (range, 9-156 months). Three of 5 patients who underwent orthotopic preservation of the adrenal cortex experienced recurrence compared with 0 of 14 patients with heterotopic autotransplantation of cortical tissue.
Pheochromocytoma frequently heralds coexisting silent VHL disease or MEN-2, mandating surveillance for inherited associations. The long interval of metachronous pheochromocytoma argues against prophylactic removal of the contralateral "normal" adrenal gland. Total adrenalectomy and heterotopic autotransplantation of medulla-free cortex may diminish the need for lifelong steroid substitution and eliminates recurrence.
遗传性嗜铬细胞瘤（HP）的特点是发病早、双侧肾上腺受累、恶性率低以及与某些家族综合征存在遗传联系。本回顾性研究旨在显示监测的高收益、可预测的双侧性以及保留皮质肾上腺切除术的挑战。
1964年至1999年，一家机构对32例HP患者进行了治疗，平均随访7年。其中有多发性内分泌腺瘤2A型（MEN 2A）15例、冯·希佩尔－林道（VHL）病12例、冯·雷克林豪森病（VRD）3例以及家族性嗜铬细胞瘤2例。32例患者中有24例接受了双侧肾上腺切除术（9例为分期手术）。5例患者进行了原位保留皮质的次全切除，14例患者进行了异位自体移植。
嗜铬细胞瘤是50%的VHL病患者和27%的MEN 2A患者的首发表现。监测发现15例MEN 2A患者中有5例患有甲状腺髓样癌，15例VHL病和VRD患者中有7例患有血管母细胞瘤、肾细胞癌和胰岛细胞瘤。32例患者中有24例HP为双侧性（MEN 2A患者中14/15，VHL病患者中7/12，VRD患者中2/3，家族性嗜铬细胞瘤患者中1/2）。在9例分期肾上腺切除术中，平均间隔时间为67个月（范围9 - 156个月）。5例原位保留肾上腺皮质的患者中有3例复发，而14例皮质组织异位自体移植的患者中无复发。
嗜铬细胞瘤常预示着并存的无症状VHL病或MEN - 2，因此有必要对遗传性关联进行监测。分期嗜铬细胞瘤的间隔时间长，不支持预防性切除对侧“正常”肾上腺。全肾上腺切除和无髓质皮质的异位自体移植可能会减少终身使用类固醇替代治疗的需求并消除复发。
