Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.,Genetics in Medicine

当前位置： X-MOL 学术 › Genet. Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2020-08-03 , DOI: 10.1038/s41436-020-0921-3
Samantha E Greenberg ₁ , Michelle F Jacobs _{2,

3} , Heather Wachtel ₄ , Amanda Anson ₁ , Luke Buchmann ₁ , Debbie L Cohen ₅ , Maria Bonanni ₆ , Bonita Bennett ₅ , Anne Naumer ₁ , Amanda M Schaefer ₂ , Wendy Kohlmann ₁ , Katherine L Nathanson _{6,

7} , Tobias Else _{3,

8} , Lauren Fishbein ₉

Affiliation

Purpose

Minimal data exist regarding the efficacy of screening protocols for individuals with SDHx germline pathogenic variants with hereditary paraganglioma–pheochromocytoma syndrome. This study aimed to evaluate the SDHx-related tumor detection rate in individuals undergoing clinical screening protocols.

Methods

A multicenter retrospective longitudinal observational study was conducted. Individuals with germline SDHx pathogenic variants underwent clinical whole-body imaging and biochemical testing.

Results

Two hundred sixty-three individuals with SDHx germline pathogenic variants completed 491 imaging screens. Individuals with SDHB germline pathogenic variants were most common (n = 188/263, 72%), followed by SDHD (n = 35/263, 13%) and SDHC (n = 28/263, 11%). SDHx-related tumors were found in 17% (n = 45/263) of the cohort. Most SDHx-related tumors were identified on baseline imaging screen (n = 39/46, 85%). Individuals with SDHD pathogenic variants had the highest tumor detection rate (n = 14/35, 40%). Of imaging screens identifying SDHx-related paraganglioma/pheochromocytoma, 29% (n = 12/41) had negative biochemical testing. Secondary actionable findings were identified in 15% (n = 75/491) of imaging screens.

Conclusion

Current SDHx screening protocols are effective at identifying SDHx-related tumors. Tumor detection rates vary by SDHx gene and screening has the potential to uncover actionable secondary findings. Imaging is an essential part of the screening process as biochemical testing alone does not detect all disease.

中文翻译：

SDHx 相关遗传性副神经节瘤-嗜铬细胞瘤综合征患者筛查中的肿瘤检出率。

目的

关于筛查方案对患有遗传性副神经节瘤-嗜铬细胞瘤综合征的SDHx种系致病变异个体的有效性的数据很少。本研究旨在评估接受临床筛查方案的个体中与SDHx相关的肿瘤检出率。

方法

进行了一项多中心回顾性纵向观察研究。具有种系SDHx致病变异的个体接受了临床全身成像和生化检测。

结果

263名具有SDHx种系致病变异的个体完成了 491 次成像筛查。具有SDHB种系致病变异的个体最常见 ( n = 188/263, 72%)，其次是SDHD ( n = 35/263, 13%) 和SDHC ( n = 28/263, 11%)。SDHx相关肿瘤在队列的 17% ( n = 45/263) 中发现。大多数与 SDHx相关的肿瘤在基线成像屏幕上被识别 ( n = 39/46, 85%)。具有SDHD致病变异的个体的肿瘤检出率最高（n = 14/35，40%）。在识别SDHx相关副神经节瘤/嗜铬细胞瘤的影像筛查中，29% ( n = 12/41) 的生化检测结果为阴性。在 15% ( n = 75/491) 的成像屏幕中确定了次要可操作的发现。