Department of Medicine ΙΙΙ, University Hospital Carl Gustav Carus at the TU Dresden, Dresden 01307, Germany.
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda 20892, USA.
J Clin Endocrinol Metab. 2023 Jan 17;108(2):397-404. doi: 10.1210/clinem/dgac563.
Long-term follow-up has been recommended for patients with pheochromocytoma or paraganglioma (PPGL) due to potential for recurrent disease. However, the need to follow patients with sporadic PPGL has recently become controversial.
To investigate the prevalence of recurrence among patients with sporadic compared with hereditary PPGL and to identify predictors of recurrence for sporadic disease.
This multicenter study included retrospective data from 1127 patients with PPGL. In addition to sex and age at primary tumor diagnosis, clinical information included location, size, and catecholamine phenotype of primary tumors, genetic test results, and subsequent development of recurrent and/or metastatic disease. Patients with sporadic PPGL were defined as those with negative genetic test results.
Prevalence of recurrence among patients with sporadic PPGL (14.7%) was lower (P < 0.001) than for patients with pathogenic variants that activate pseudohypoxia pathways (47.5%), but similar to those with variants that activate kinase pathways (14.9%). Among patients with sporadic recurrent PPGL, 29.1% and 17.7% were respectively diagnosed at least 10 and 15 years after first diagnosis. Multivariable regression analysis showed that a noradrenergic/dopaminergic phenotype (HR 2.73; 95% CI, 1.553-4.802; P < 0.001), larger size (HR 1.82; 95% CI, 1.113-2.962; P = 0.017) and extra-adrenal location (HR 1.79; 95% CI, 1.002-3.187; P = 0.049) of primary tumors were independent predictors of recurrence in sporadic PPGL.
Patients with sporadic PPGL require long-term follow-up, as supported by the 14.7% prevalence of recurrent disease, including recurrences at more than 10 years after first diagnosis. The nature of follow-up could be individualized according to tumor size, location, and biochemical phenotype.
由于潜在的疾病复发，建议对嗜铬细胞瘤或副神经节瘤（PPGL）患者进行长期随访。然而，最近对随访散发性 PPGL 患者的必要性产生了争议。
研究散发性与遗传性 PPGL 相比，复发的发生率，并确定散发性疾病复发的预测因素。
本多中心研究纳入了 1127 例 PPGL 患者的回顾性数据。除了原发性肿瘤诊断时的性别和年龄外，临床信息还包括原发性肿瘤的位置、大小和儿茶酚胺表型、基因检测结果以及随后复发和/或转移疾病的发展情况。散发性 PPGL 患者定义为基因检测结果阴性的患者。
散发性 PPGL 患者的复发率（14.7%）低于激活伪缺氧途径的致病性变异患者（47.5%）（P < 0.001），但与激活激酶途径的变异患者（14.9%）相似。在散发性复发性 PPGL 患者中，分别有 29.1%和 17.7%在首次诊断后至少 10 年和 15 年被诊断。多变量回归分析显示，去甲肾上腺素/多巴胺能表型（HR 2.73；95%CI，1.553-4.802；P < 0.001）、较大的肿瘤大小（HR 1.82；95%CI，1.113-2.962；P = 0.017）和肾上腺外位置（HR 1.79；95%CI，1.002-3.187；P = 0.049）是散发性 PPGL 复发的独立预测因素。
支持复发率为 14.7%，包括首次诊断后 10 年以上的复发，因此散发性 PPGL 患者需要长期随访。随访的性质可以根据肿瘤大小、位置和生化表型进行个体化。
