Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts and medulloblastomas are the main tumor types encountered, but meningiomas, ovarian or cardiac fibromas and sarcomas have also been described. The clinical features and tumor risks are different depending on the causative gene. Due to the rarity of this condition, there is little data on phenotype-genotype correlations. This report summarizes genotype-based recommendations for screening patients with PTCH1 and SUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 in PTCH1, and at age 20 in SUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 for PTCH1 PV carriers only. For medulloblastomas, repeated brain MRI from birth to 5 years should be proposed for SUFU PV carriers only. Brain MRI for meningiomas and pelvic ultrasound for ovarian fibromas should be offered to both PTCH1 and SUFU PV carriers. Follow-up of patients treated with radiotherapy should be prolonged and thorough because of the risk of secondary malignancies. Prospective evaluation of evidence of the effectiveness of these surveillance recommendations is required.

Gorlin 综合征 (MIM 109,400) 是一种癌症易感性综合征，与Sonic Hedgehog 通路 ( PTCH1或SUFU)中基因的体质致病变异 (PV)相关，与广泛的良性和恶性肿瘤有关。基底细胞癌 (BCC)、牙源性角化囊肿和髓母细胞瘤是主要的肿瘤类型，但也有脑膜瘤、卵巢或心脏纤维瘤和肉瘤的报道。临床特征和肿瘤风险因致病基因而异。由于这种情况很少见，表型-基因型相关性的数据很少。本报告总结了基于基因型的PTCH1和SUFU患者筛查建议相关的 Gorlin 综合征，在 2020 年 1 月举行的国际儿科肿瘤学会欧洲分会 (SIOPE HGWG) 宿主基因组工作组研讨会上进行了讨论。为了能够早期发现 BCC，皮肤科检查应从年龄开始在PTCH1中为 10 岁，在SUFU PV 运营商中为 20 岁。基于牙科学检查的牙源性角化囊肿筛查应从 2 岁开始，每年 8 岁左右开始，仅适用于PTCH1 PV 携带者。对于髓母细胞瘤，应仅对SUFU PV 携带者建议从出生到 5 岁重复进行脑部 MRI 检查。脑膜瘤的脑 MRI 和卵巢纤维瘤的盆腔超声应同时提供给PTCH1和SUFU光伏载体。由于存在继发性恶性肿瘤的风险，对接受放射治疗的患者的随访应延长且彻底。需要对这些监测建议的有效性证据进行前瞻性评估。