临床与实验病理学杂志2025,Vol.41Issue(4):444-450,7.DOI:10.13315/j.cnki.cjcep.2025.04.005
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 fibroad-enoma and literature review
摘要
Abstract
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-associat-ed in situ carcinoma in 16 cases(15 cases of low-grade ductal carcinoma in situ and 1 case of lobular carcinoma in si-tu),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 carcino-ma).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 fi-bromatosis-like metaplastic carcinoma,ER,PR,and HER2 were all negative,with p63 and CK5/6 positivity.Two ca-ses were negative for mismatch repair protein PMS2.Six cases had a family or personal history of malignant tumors;a-mong the 5 cases that underwent next-generation sequencing,2 cases harbored germline BRCA2 mutations,2 cases had germline PMS2 mutations,and 1 case exhibited no definitive genetic alteration.Conclusion Carcinoma arising within FA exhibits atypical clinical and imaging features.In patients with high-risk factors for breast cancer or family history of malignancy,or when calcifications are observed on imaging,prompt excision and biopsy are recommended.Recogniz-ing the abnormal morphology within FA and the use of immunohistochemistry are essential for accurate diagnosis,with careful differentiation from spindle cell metaplastic carcinoma and low-grade adenosquamous carcinoma.Overall,the prognosis is relatively favorable,and treatment should be tailored according to tumor type,molecular subtype,and stage.关键词
乳腺肿瘤/纤维腺瘤/纤维腺瘤内癌/化生性癌Key words
breast neoplasms/fibroadenoma/carcinoma within fibroadenoma/metaplastic carcinoma分类
临床医学引用本文复制引用
王维娜,刘雪婷,秦颖,张培,刘珊,王晓春,张兰凤..乳腺纤维腺瘤内癌21例临床病理特征并文献复习[J].临床与实验病理学杂志,2025,41(4):444-450,7.基金项目
河北省卫健委科学研究计划项目(20231484) Scientific Research Plan Projects for Health Commission of Hebei Province(20231484) (20231484)