Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
1st Department of Internal Medicine, Faculty of Medicine, Pavol Jozef Šafárik University in Košice, Trieda SNP 1, 04011, Košice, Slovakia.
J Cancer Res Clin Oncol. 2020 Apr;146(4):1051-1063. doi: 10.1007/s00432-020-03138-5. Epub 2020 Feb 15.
Pheochromocytomas/paragangliomas (PHEOs/PGLs) are rare in children with only a few SDHB mutation-related cases. Previous studies on children were conducted in small cohorts. This large set of pediatric patients provides robust data in the evaluation of clinical outcomes.
Sixty-four pediatric PHEO/PGL patients with SDHB germline mutations were included in the present study. The clinical presentation, disease course, and survival rate were evaluated.
Thirty-eight males and 26 females were diagnosed with PHEO/PGL at a median age of 13 years. The majority of patients displayed norepinephrine hypersecretion and 73.44% initially presented with a solitary tumor. Metastases developed in 70% of patients at the median age of 16 years and were mostly diagnosed first 2 years and in years 12-18 post-diagnosis. The presence of metastases at the time of diagnosis had a strong negative impact on survival in males but not in females. The estimated 5-, 10-, and 20-year survival rates were 100%, 97.14%, and 77.71%, respectively.
The present report has highlighted several important aspects in the management of pediatric patients with SDHB mutations associated-PHEO/PGL. Initial diagnostic evaluation of SDHB mutation carriers should be started at age of 5-6 years with initial work-up focusing on abdominal region. Thorough follow-up is crucial first 2 years post-diagnosis and more frequent follow-ups are needed in years 10-20 post-diagnosis due to the increased risk of metastases. Although this age group developed metastasis as early as 5 years from diagnosis, we have shown that the overall 20-year prognosis and survival are good.
嗜铬细胞瘤/副神经节瘤（PHEO/PGL）在儿童中较为罕见，仅有少数与 SDHB 基因突变相关的病例。先前的研究多针对儿童小样本进行。本研究纳入了大量儿科患者，为评估临床结局提供了有力数据。
本研究纳入了 64 例携带 SDHB 种系突变的儿科 PHEO/PGL 患者。评估了其临床表现、疾病过程和生存率。
38 名男性和 26 名女性患者中位年龄为 13 岁时被诊断为 PHEO/PGL。大多数患者表现为去甲肾上腺素分泌过多，73.44%的患者最初表现为单发肿瘤。70%的患者在中位年龄为 16 岁时发生转移，且大多数转移在诊断后 2 年内以及 12-18 年内首次被诊断。诊断时存在转移对男性患者的生存有强烈的负面影响，但对女性患者没有影响。男性患者的 5 年、10 年和 20 年生存率分别为 100%、97.14%和 77.71%。
本报告强调了管理与 SDHB 突变相关的儿科 PHEO/PGL 患者的几个重要方面。应在 5-6 岁时开始对 SDHB 突变携带者进行初始诊断评估，初始检查重点关注腹部区域。诊断后最初 2 年的随访至关重要，诊断后 10-20 年内需要更频繁的随访，因为转移风险增加。尽管这一年龄组早在诊断后 5 年内就发生了转移，但我们已经表明，整体 20 年预后和生存率良好。
