Tidman Alice SM
Practitioner. 2017 Jan;261(1800):23-7.
More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient. However, a number of cancer syndromes exhibit an increased risk of developing malignant skin lesions. For instance, Gorlin syndrome (nevoid basal cell carcinoma syndrome) which typically results in the development of multiple basal cell carcinomas, within the first few decades of life. The majority of cancer syndromes with skin signs are inherited in an autosomal dominant pattern demonstrating complete penetrance before the age of 70. Once a cancer syndrome has been diagnosed, the cornerstone of management is frequent surveillance for the early detection and treatment of malignancy. Genetic testing and counselling should be offered to family members.
已描述了200多种遗传性癌症易感性综合征,据认为它们占所有癌症的5%-10%。许多综合征有皮肤表现(通常为皮损,偶尔为皮疹),这些表现常常先于其他全身病变出现。皮肤体征通常不具有特异性,外观上往往不明显,其重要性容易被忽视,临床诊断也具有挑战性。通常需要进行组织学检查以鉴别皮损。除发育异常痣综合征的非典型痣外,它们通常为良性,在病理上与原发性肿瘤无关,对患者来说可能仅仅是一个美容问题。然而,一些癌症综合征发生恶性皮肤病变的风险增加。例如,戈林综合征(痣样基底细胞癌综合征)通常会在生命的头几十年内导致多发性基底细胞癌的发生。大多数有皮肤体征的癌症综合征以常染色体显性模式遗传,在70岁之前显示出完全显性。一旦诊断出癌症综合征,管理的基石就是频繁监测以早期发现和治疗恶性肿瘤。应向家庭成员提供基因检测和咨询服务。