Background: The efficacy of germline testing in colorectal cancer has been proven; however, germline testing in individuals with sebaceous neoplasms is less well defined. This review aims to summarize the literature on sebaceous neoplasms to date, describing the somatic tumor profiles, tumor screening methods, and personal and family history that are suspicious of a germline mutation. Sebaceous neoplasms can be attributed to a variety of etiologies, including UV exposure, immunodeficiency, germline mutations, or multifactorial influences associated with aging. Sebaceous tumors with abnormal microsatellite instability and mismatch repair deficiency are indicative of a germline mutation in 20–50% of cases, which is similar to rates found in colorectal tumors. Personal and familial history can also be suggestive of a germline etiology in these patients and should be assessed routinely, as approximately 30% of individuals with sebaceous neoplasms carry a germline mutation. We outline a strategy for the identification of individuals at risk for germline mutations, recommendations for the management of mutation carriers, and treatment options for individuals with sebaceous neoplasms.Conclusions: Sebaceous tumors are most often sporadic; however, evaluations of a germline etiology are prudent to effectively identify those at risk of additional malignancies as well as at-risk family members. Referral to genetic counseling and germline genetic testing for individuals at risk can significantly impact cancer treatment and screening in patients and their families.
背景：结直肠癌的种系检测效果已得到证实，然而皮脂腺肿瘤患者的种系检测尚缺乏明确定义。本综述旨在总结迄今关于皮脂腺肿瘤的文献，描述其体细胞肿瘤特征、肿瘤筛查方法以及提示可能存在种系突变的个人及家族史。皮脂腺肿瘤的病因多样，包括紫外线暴露、免疫缺陷、种系突变或与衰老相关的多因素影响。具有微卫星不稳定性和错配修复缺陷异常的皮脂腺肿瘤中，20-50%的病例提示存在种系突变，这一比例与结直肠肿瘤中的发现相似。个人及家族史同样可能提示这些患者存在种系病因，应作为常规评估内容，因为约30%的皮脂腺肿瘤患者携带种系突变。我们提出了识别种系突变风险个体的策略、对突变携带者的管理建议以及皮脂腺肿瘤患者的治疗方案。 结论：皮脂腺肿瘤多为散发性病例，但对种系病因的审慎评估能有效识别具有其他恶性肿瘤风险的患者及其高危家族成员。对风险个体进行遗传咨询转诊和种系基因检测，可显著影响患者及其家庭的癌症治疗与筛查策略。
肿瘤(癌症)患者之家