Chew Winston Hong Wern, Courtney Eliza, Lim Kok Hing, Li Shao Tzu, Chen Yanni, Tan Min Han, Chung Alexander, Khoo Joan, Loh Amos, Soh Shui Yen, Iyer Prasad, Loh Lih Ming, Ngeow Joanne
Cancer Genetics ServiceDivision of Medical OncologyNational Cancer Centre SingaporeSingapore City169610Singapore.
Department of PathologySingapore General HospitalSingapore City169610Singapore.
Mol Genet Genomic Med. 2017 Jul 20;5(5):602-607. doi: 10.1002/mgg3.313. eCollection 2017 Sep.
Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of the adrenal glands and paraganglia, occurring sporadically or as a range of hereditary tumor syndromes. About 30% of PPGLs are attributed to germline mutations. Clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background. Genetic testing for PPGLs is not well studied in Southeast Asia. We reviewed clinical management of PPGLs in Singapore, highlighting current gaps in clinical practice.
Medical records of patients with PPGLs between 2005 and 2016 were reviewed. Diagnosis was confirmed histologically and stratified into sporadic or familial/syndromic (FS).
Twenty-seven (21.8%) patients were referred to the Cancer Genetics Service (CGS). FS PPGLs (18.5%) and extra-adrenal PPGLs (58.1%) incidences were higher than previous studies. Referrals were lower for sporadic PPGLs compared to FS PPGLs (3.7% vs. 100%). Referrals were highest at diagnosis age <20 years old (80%) and decreased with increasing age; ≥20-<40 years old (32.1%), ≥40-<60 years old (10.6%). Genetic testing was taken up in 12/27 (44.4%) patients of which 7/12 (58.3%, ) had germline mutations.
Opportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PPGLs, particularly between ages 20-60.
嗜铬细胞瘤和副神经节瘤（PPGLs）是肾上腺和副神经节的神经内分泌肿瘤，可散发发生或作为一系列遗传性肿瘤综合征出现。约30%的PPGLs归因于种系突变。临床表现，包括定位、恶性潜能和发病年龄，因遗传背景而异。PPGLs的基因检测在东南亚地区研究较少。我们回顾了新加坡PPGLs的临床管理情况，突出了当前临床实践中的差距。
回顾了2005年至2016年期间PPGLs患者的病历。诊断经组织学证实，并分为散发性或家族性/综合征性（FS）。
27例（21.8%）患者被转诊至癌症遗传学服务（CGS）。FS-PPGLs（18.5%）和肾上腺外PPGLs（58.1%）的发病率高于先前研究。散发性PPGLs的转诊率低于FS-PPGLs（3.7%对100%）。转诊率在诊断年龄<20岁时最高（80%），并随年龄增加而降低；≥20-<40岁（32.1%），≥40-<60岁（10.6%）。27例患者中有12例（44.4%）接受了基因检测，其中12例中有7例（58.3%）发生了种系突变。
由于明显散发性PPGLs患者的转诊率较低，尤其是在20-60岁之间，基因检测的机会经常被错过。
