文献简介

出版社:JAMA

作  者:AhangariDario,MD;VanEeckhoutPascal,MD;TrommeIsabelle,MD,PhD

编  号:

关键字:导管腺癌

年  份:2020   点击量:206

文献摘要 全文翻译


A male patient in his 70s presented an asymptomatic, slightly eroded, translucent nodule on his right nipple (Figure, A). There was a family history of cutaneous melanoma in his 2 sisters, daughter, and nephew and breast cancer in his mother and sister. We completed genetic testing of family members and found no genetic mutations in sera samples to predispose them to melanoma skin cancer or breast cancer. The main genes tested were the breast cancer type 1 susceptibility(BRCA1), breast cancer 2 DNA repair associated(BRCA2), partner and localizer of BRCA2 (PALB2), checkpoint kinase 2 (CHEK2), and tumor protein p53(TP53) genes. A dermoscopic examination of the patient showed a translucent lesion with arborizing vessels and erosion (Figure,B). A punch biopsy was performed.

患者男性,70余岁,因右乳头无症状、轻度糜烂半透明结节而就诊(图A)。患者两个姐妹、女儿及其侄子有家族性皮肤黑素瘤病史,而他的母亲和妹妹有乳腺癌病史。我们完成了对家庭成员的基因测试,发现血清样本中无易致黑色素瘤、皮肤癌或乳腺癌的突变基因。检测的主要基因为乳腺癌易感基因1(BRCA1)、乳腺癌相关DNA修复基因(BRCA2)、PALB2、检查点激酶2 (CHEK2)、肿瘤蛋白p53(TP53)基因。患者皮肤镜检查显示半透明皮损,伴树枝状血管和糜烂(图B)。行钻孔活检。