背景:关于Lynch综合征(LS)患者皮肤肿瘤形成的患者特异性危险因素知之甚少。
目的:确定与LS中皮肤肿瘤发展相关的临床因素。
方法:从1/2000-3/2020在Dana-Farber癌症研究所接受临床遗传学护理的年龄≥18岁的LS携带者(在MLH1,MSH2,MSH6,PMS2或EPCAM中确认的致病性种系变异[PGV])队列中系统地收集了临床数据。采用多因素logistic回归分析评估与皮肤瘤形成相关的临床因素。
结果:在607个LS运营商中,9.2%患有LS相关皮肤肿瘤,15.0%患有非LS相关皮肤肿瘤。58.2%(353/607)有先前的皮肤病学评估记录。29.7%(38/128)的皮肤肿瘤没有内脏LS相关恶性肿瘤的病史。LS相关皮肤肿瘤与男性显著相关,年龄,种族,MLH1PGV,MSH2/EPCAMPGV,和非LS皮肤肿瘤的个人病史。非LS相关皮肤肿瘤与年龄显著相关,非LS相关皮肤肿瘤的一级和二级亲属数量,和LS相关皮肤肿瘤的个人病史。
结论:单机构观察性研究;人口统计学同质性。
结论:皮肤肿瘤在LS患者中很常见。我们确定了与LS和非LS相关的皮肤肿瘤相关的临床因素。应考虑对所有LS携带者进行定期皮肤病学监测。
Little is known about patient-specific risk factors for skin neoplasia in individuals with Lynch syndrome (LS).
Identify clinical factors associated with development of skin neoplasms in LS.
Clinical data were systematically collected on a cohort of LS carriers (confirmed pathogenic germline variants in MLH1, MSH2, MSH6, PMS2, or EPCAM) age ≥18 undergoing clinical genetics care at Dana-Farber Cancer Institute from January 2000 to March 2020. Multivariable logistic regression was performed to evaluate clinical factors associated with skin neoplasia.
Of 607 LS carriers, 9.2% had LS-associated skin neoplasia and 15.0% had non-LS-associated skin neoplasia; 58.2% (353/607) had documentation of prior dermatologic evaluation; 29.7% (38/128) with skin neoplasms lacked a history of visceral LS-associated malignancy. LS-associated skin neoplasms were significantly associated with male sex, age, race, MLH1 pathogenic germline variants, MSH2/EPCAM pathogenic germline variants, and personal history of non-LS skin neoplasms. Non-LS-associated skin neoplasms was significantly associated with age, number of first- and second-degree relatives with non-LS-associated skin neoplasms, and personal history of LS-associated skin neoplasms.
Single-institution observational study; demographic homogeneity.
Skin neoplasms are common in individuals with LS. We identified clinical factors associated with LS- and non-LS-associated skin neoplasms. Regular dermatologic surveillance should be considered for all LS carriers.