Kim Raymond H, Wang Xiangling, Evans Andrew J, Campbell Steven C, Nguyen Jane K, Farncombe Kirsten M, Eng Charis
Fred A. Litwin Family Centre in Genetic Medicine, Familial Cancer Clinic, Princess Margaret Cancer Centre, University Health Network, Department of Medicine, University of Toronto, Toronto, ON Canada.
Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care and Population Health, Cleveland, OH USA.
NPJ Genom Med. 2020 Sep 29;5:40. doi: 10.1038/s41525-020-00148-7. eCollection 2020.
Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, and thyroid. As a result, individuals undergo enhanced surveillance for early detection of these cancers. However, less commonly occurring cancers, such as colorectal and kidney, have insufficient guidelines for early detection. Currently, screening for kidney cancer via renal ultrasound begins at 40 years of age, because there were only rare cases of elevated risk in prospective series under 40. There have, however, been accumulating reports of kidney cancer in individuals with CS in their 30s, illustrating a need to lower the age of surveillance. We present additional evidence of renal cell carcinoma in two individuals with CS in their early twenties, and propose a reassessment of the abdominal surveillance in patients with PHTS. We propose biannual screening for kidney cancer beginning at 20 years of age.
患有PTEN错构瘤肿瘤综合征（PHTS）的个体，包括考登综合征（CS）患者，易患多种良性错构瘤，患癌风险增加，尤其是乳腺癌、子宫内膜癌和甲状腺癌。因此，这些个体需要加强监测以便早期发现这些癌症。然而，对于较少见的癌症，如结直肠癌和肾癌，早期检测的指南并不充分。目前，通过肾脏超声筛查肾癌始于40岁，因为在40岁以下的前瞻性队列中只有罕见的风险升高病例。然而，不断有报告称30多岁的CS患者患肾癌，这表明有必要降低监测年龄。我们提供了另外两例二十出头的CS患者患肾细胞癌的证据，并建议重新评估PHTS患者的腹部监测。我们建议从20岁开始每半年进行一次肾癌筛查。
