Background

Pheochromocytomas (PHEOs) are rare catecholamine-secreting adrenal tumors. Approximately 60–90% of bilateral PHEOs are hereditary. We retrospectively analyzed the clinical characteristics of patients with bilateral PHEOs and the morbidity rate (malignancy, tumor recurrence and adrenal insufficiency (AI) rate) related to surgery technique and genetic status of the patients.

Results

Fourteen patients (12.5%, nine women, five men) had synchronous or metachronous bilateral PHEOs (out of 112 PHEO patients who underwent surgery between 1976 and 2021). The median age at diagnosis was 32 years (9–76) (three were children). Nine patients (64.2%) presented synchronous bilateral tumors, five (35.7%) contralateral metachronous tumors, 2–12 years after the first surgical intervention; three (21.4%) were metastatic. Median follow-up: 5 years (1–41), IQR 19 months. A total of 78.5% had a germline mutation (eight RET gene with MEN2A syndrome, three VHL syndrome, three not tested). Post-surgery recurrence was noted in 16.6% of patients (one with MEN2A syndrome and metastatic PHEOs, one with VHL syndrome), with similar rates after total adrenalectomy or cortical-sparing adrenal surgery. AI was avoided in 40% after cortical-sparing surgery.

Conclusion

Bilateral PHEOs are usually associated with genetic syndromes. The surgical technique for patients with hereditary bilateral PHEOs should be chosen based on a personalized approach, as they are at higher risk for developing new adrenal tumors requiring additional surgeries.

中文翻译：

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双侧嗜铬细胞瘤：与手术技术和遗传状态相关的临床表现和发病率

背景

嗜铬细胞瘤（PHEO）是罕见的分泌儿茶酚胺的肾上腺肿瘤。大约 60-90% 的双侧 PHEO 是遗传性的。我们回顾性分析了双侧 PHEO 患者的临床特征以及与手术技术和患者遗传状况相关的发病率（恶性、肿瘤复发和肾上腺皮质功能不全（AI）率）。

结果

14 名患者（12.5%，9 名女性，5 名男性）患有同步或异时双侧 PHEO（1976 年至 2021 年间接受手术的 112 名 PHEO 患者中）。诊断时的中位年龄为 32 岁（9-76 岁）（其中 3 名是儿童）。首次手术干预后 2-12 年，9 名患者 (64.2%) 出现双侧同步肿瘤，5 名 (35.7%) 患者出现对侧异时肿瘤；三个 (21.4%) 发生转移。中位随访时间：5 年 (1-41)，IQR 19 个月。总共 78.5% 的人有种系突变（8 个 RET 基因患有 MEN2A 综合征，3 个 VHL 综合征，3 个未检测）。16.6% 的患者出现术后复发（一名患有 MEN2A 综合征和转移性 PHEO，一名患有 VHL 综合征），全肾上腺切除术或保留皮质肾上腺手术后的复发率相似。40% 的皮质保留手术后避免了 AI。

结论

双侧 PHEO 通常与遗传综合征有关。对于遗传性双侧 PHEO 患者，应根据个性化方法选择手术技术，因为他们发生新肾上腺肿瘤、需要额外手术的风险较高。