乳腺具有皮脂腺结构的浸润性癌  

Invasive carcinoma of breast with sebaceous pattern

作　　者：刘晔[1] 陈吉 蒋冬冬 李丽[1] 鲍书友 葛红军 李葵芳[1] LIU Ye;CHEN Ji;JIANG Dong-dong;LI Li;BAO Shu-you;GE Hong-jun;LI Kui-fang(Department of Pathology,Jiangyin Traditional Chinese Medicine Hospital,Jiangyin 214400,China;Department of Medical Sonography,Jiangyin Traditional Chinese Medicine Hospital,Jiangyin 214400,China)

机构地区：[1]江阴市中医院病理科,江苏江阴214400 [2]江阴市中医院超声医学科,江苏江阴214400

出　　处：《诊断病理学杂志》2024年第7期638-643,共6页Chinese Journal of Diagnostic Pathology

基　　金：江苏省江阴市中医药学会科研项目(M202312)。

摘　　要：目的探讨乳腺具有皮脂腺结构的浸润性癌的临床病理特点、免疫表型、鉴别诊断、分子特点及预后。方法收集江苏省江阴市中医院病理科2023年诊断的1例具有皮脂腺结构的乳腺癌的临床病理资料,行免疫标记、荧光原位杂交(FISH)和二代测序(NGS)检测,并复习相关文献。结果患者女性,42岁,因“右乳肿块”就诊,镜下见两型细胞,一型为巢周分布的未分化细胞,胞质少;另一型为皮脂腺样细胞,具有丰富的空泡状胞质,高级别核,核仁显著,核分裂象异常活跃,达39个/10HPF。可见原位病变及小叶癌化。免疫组化ER及PR阴性,AR及CD15阳性,HER2无过表达,p53突变型,Ki-67增殖指数70%~80%,错配修复蛋白检测(MLH1、MSH2、MSH6、PMS2)无缺失表达。BRCA1/2未见胚系突变,BRCA1体细胞突变,TP53突变。结论乳腺具有皮脂腺结构的浸润性癌罕见,属于乳腺癌非特殊类型范畴,诊断需结合组织形态学、免疫表型综合考虑,分子检测显示TP53伴随BRCA1基因突变。Objective To investigate the clinicopathological features,immunophenotype,differential diagnosis,molecular features and prognosis of sebaceous breast carcinoma.Methods one case of sebaceous breast carcinoma diagnosed in the Department of Pathology,Jiangyin Hospital of Traditional Chinese Medicine in 2023 was collected.Immunohistochemical staining,fluorescence in-situ hybridization and next-generation sequencing were performed,and literatures were reviewed.Results The patient was a 42-year-old woman who presented with a tumor of right breast.Two types of cells were seen under the microscope:one type was undifferentiated cells with perinuclear distribution and little cytoplasm;the other type was sebaceous adenoidal cells with abundant vacuolated cytoplasm,high-grade nuclei,pronounced nucleoli,and abnormally active nuclear mitosis,up to 39/10HPF.In situ lesions and lobular carcinomatosis were seen.Immunohistochemistry showed that ER and PR were negative.AR and CD15 were positive and without HER2 overexpression.Expression of p53 was mutant and Ki-67 proliferation index was 70%-80%,mismatch repair protein(MLH1,MSH2,MSH6,PMS2)were not deletively expressed.No germline mutations were detected in BRCA1/2 by next-generation sequencing,but somatic mutation of BRCAI and TP53 was found.Conclusion Sebaceous breast carcinoma is rare and belongs to the category of non-specific types of breast carcinoma,and diagnosis requires a combination of histomorphological and immunophenotypic considerations,and molecular detection shows that TP53accompanies with BRCA1 mutations.

关 键 词：乳腺 皮脂腺癌 临床病理 分子检测 

分 类 号：R737.9[医药卫生—肿瘤]