.005乳腺纤维腺瘤内癌21例临床病理特征并文献复习  

Clinicalpathological characteristics of 21 cases of breast carcinoma within fibroadenoma and literature review

作　　者：王维娜[1] 刘雪婷 秦颖 张培[1] 刘珊 王晓春[2] 张兰凤 Wang Weina;Liu Xueting;Qin Ying;Zhang Pei;Liu Shan;Wang Xiaochun;Zhang Lanfeng(Department of Pathology,Affiliated Hospital of Hebei University,Baoding 071000,China;Department of Breast Surgery,Affiliated Hospital of Hebei University,Baoding 071000,China;Department of General Medicine,Affiliated Hospital of Hebei University,Baoding 071000,China)

机构地区：[1]河北大学附属医院病理科,保定071000 [2]河北大学附属医院乳腺科,保定071000 [3]河北大学附属医院综合内科,保定071000

出　　处：《临床与实验病理学杂志》2025年第4期444-450,共7页Chinese Journal of Clinical and Experimental Pathology

基　　金：河北省卫健委科学研究计划项目(20231484)。

摘　　要：目的探讨乳腺纤维腺瘤(fibroadenoma,FA)内癌的临床病理学特征、鉴别诊断和预后。方法回顾性分析21例FA内癌的临床及影像学资料,采用HE、免疫组化EnVision两步法及二代基因测序,分析其临床病理学特征及基因学改变,并复习相关文献。结果患者均为女性,年龄21~67岁,中位年龄48岁。临床均表现为界清的占位性病变,影像学检查:12例见点状/粗大钙化,3例局部边界欠清。肿瘤平均最大径2.25 cm,切面灰白色结节状,类似FA。镜下见上皮或梭形细胞增生,病理诊断FA内原位癌16例(低级别导管原位癌15例,小叶原位癌1例),浸润性癌5例(浸润性癌-非特殊型2例,浸润性小叶癌1例,低级别腺鳞癌1例,纤维瘤病样化生性癌1例)。18例癌组织局限于FA内,3例局部侵出FA,1例伴同侧腋窝淋巴结转移。免疫表型:原位癌肿瘤细胞CK5/6阴性,p63肌上皮阳性,ER、PR弥漫一致阳性;浸润性癌导管及小叶癌ER、PR阳性,HER2阴性。低级别腺鳞癌及纤维瘤病样化生性癌ER、PR、HER2均阴性,p63、CK5/6阳性。2例错配修复蛋白PMS2均阴性。6例具恶性肿瘤家族史或个人史,5例行二代测序检测提示2例伴BRCA2基因胚系突变,2例伴PMS2胚系突变,1例未见明确基因改变。结论FA内癌临床及影像学特征不典型,对具乳腺癌高危因素、肿瘤家族史,影像学检查见钙化灶者应及时切除并活检。识别FA内异常形态,并辅以免疫组化是准确诊断的关键,尤其应注意与梭形细胞化生性癌、低级别腺鳞癌的诊断。FA内癌的预后相对较好,应根据肿瘤类型、分子分型及分期采取合理的治疗方案。Purpose To investigate the clinicopathological features,differential diagnosis,and prognosis of breast carcinoma within fibroadenoma(FA).Methods A retrospective analysis was performed on the clinical and imaging data of 21 cases of FA-associated carcinoma.HE staining,immunohistochemistry using the EnVision method,and next-generation sequencing were employed to assess the clinicopathological characteristics and genetic alterations,with a review of the relevant literature.Results All patients were female,aged 21-67 years,with a median age of 48 years.Clinically,all lesions presented with well-circumscribed mass lesions.On imaging,12 cases demonstrated punctate or coarse calcifications,while 3 cases exhibited locally indistinct margins.Pathological examination revealed that the tumors had an average maximum diameter of 2.25 cm,with a gray-white nodular cut surface resembling FA.Microscopically,there was proliferation of either epithelial or spindle cells.The pathological diagnosis was FA-associated in situ carcinoma in 16 cases(15 cases of low-grade ductal carcinoma in situ and 1 case of lobular carcinoma in situ),and invasive carcinoma in 5 cases(comprising 2 cases of invasive carcinoma-no special type,1 case of invasive lobular carcinoma,1 case of low-grade adenosquamous carcinoma and 1 case of fibromatosis-like metaplastic carcinoma).In 18 cases,the carcinoma was confined within the FA,whereas in 3 cases the tumor locally extended beyond the FA,and 1 case exhibited ipsilateral axillary lymph node metastasis.Immunophenotypically,tumor cells in in situ carcinomas were negative for CK5/6,while the myoepithelial cells were p63-positive,and both estrogen receptor(ER)and progesterone receptor(PR)were diffusely and consistently positive.In invasive carcinoma,both ductal and lobular subtypes were ER and PR positive and HER2 negative.Conversely,in the low-grade adenosquamous carcinoma and fibromatosis-like metaplastic carcinoma,ER,PR,and HER2 were all negative,with p63 and CK5/6 positivity.Two cases were negative for mism

关 键 词：乳腺肿瘤 纤维腺瘤 纤维腺瘤内癌 化生性癌 

分 类 号：R737.9[医药卫生—肿瘤]