Fogel Alexander L, Sarin Kavita Y, Teng Joyce M C
aStanford University School of Medicine bDepartment of Dermatology cDepartment of Dermatology and Pediatrics dDivision of Pediatric Dermatology, Stanford University School of Medicine, USA.
Curr Opin Pediatr. 2017 Aug;29(4):426-433. doi: 10.1097/MOP.0000000000000514.
Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals.
In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis. The sonic hedgehog (SHH) pathway inhibitor vismodegib was shown in a placebo-controlled phase III randomized trial to reduce the tumor burden in patients with BCNS. Epidermolysis bullosa (EB) has been classified into four major types and more than 30 subtypes based partly on specific mutations, and best clinical practice guidelines for the management of cutaneous squamous cell carcinoma in EB have been developed. Oculocutaneous albinism (OCA) has been associated with new mutations in genes named OCA5, OCA6, and OCA7, bringing to the total number of culprit genes to seven (OCA1-OCA7).
Advances in our understanding of genetic conditions that predispose to childhood skin cancer include new disease classification systems, management guidelines, and treatment options.
儿童皮肤癌相对罕见，可能提示潜在的遗传疾病。对遗传途径的日益深入了解正在改变遗传性皮肤癌易感性综合征的诊断和管理。在本综述中，我们概述了易导致儿童皮肤癌发生的遗传状况以及医疗人员在评估受影响个体时应评估的体征。
在基底细胞痣综合征（BCNS）中，patched2（PTCH2）基因和融合抑制因子（SUFU）基因与疾病发病机制有关。在一项安慰剂对照的III期随机试验中，音猬因子（SHH）信号通路抑制剂维莫德吉被证明可减轻BCNS患者的肿瘤负担。大疱性表皮松解症（EB）已被分为四大类和30多种亚型，部分基于特定突变，并且已经制定了EB中皮肤鳞状细胞癌管理的最佳临床实践指南。眼皮肤白化病（OCA）与名为OCA5、OCA6和OCA7的基因中的新突变有关，使致病基因总数达到七个（OCA1 - OCA7）。
我们对易导致儿童皮肤癌的遗传状况的理解取得了进展，包括新的疾病分类系统、管理指南和治疗选择。
