摘要
目的探讨乳腺浸润性微乳头状癌(IMPC)中PIK3CA基因突变的临床病理特征、免疫表型及其潜在的生物学行为意义。方法分析5例经组织病理学确诊为IMPC的乳腺癌病例,所有病例均行免疫组化检测(ER、PR、HER2、Ki-67、EMA/MUC1)及PIK3CA基因突变检测(PCR和/或NGS),汇总其临床病理特征、免疫表型及分子结果。结果肿瘤组织呈典型微乳头结构,EMA/MUC1显示细胞膜极性反转。ER/PR阳性,HER2评分为0或1+;Ki-67为20%~35%(按≥20%定义为“高表达”)。5例中4例检出PIK3CA热点突变(H1047R、E545K、E542K),1例合并TP53突变。结论IMPC具有特征性形态与免疫表型,PIK3CA突变在本病例系列中检出率较高(4/5)。结合形态学与分子检测有助于此亚型识别及治疗决策,研究为描述性观察,未进行推断统计。
Objective To investigate the clinicopathological features,immunophenotypic profile,and potential biological implications of PIK3CA gene mutations in invasive micropapillary carcinoma(IMPC)of the breast.Methods A retrospective analysis was conducted on five breast cancer cases pathologically confirmed as IMPC.All cases underwent immunohistochemical(IHC)staining for estrogen receptor(ER),progesterone receptor(PR),human epidermal growth factor receptor 2(HER2),Ki-67,and epithelial membrane antigen/mucin-1(EMA/MUC1).In addition,PIK3CA gene mutation testing was performed using polymerase chain reaction(PCR)and/or next-generation sequencing(NGS).The clinicopathological characteristics,immunohistochemical findings,and molecular profiles were summarized.Results The tumor exhibited a characteristic micropapillary architecture with reversed epithelial membrane antigen(EMA)/MUC1 polarity.Estrogen receptor(ER)and progesterone receptor(PR)were positive,while HER2 scored 0 or 1+.The Ki-67 index ranged from 20%to 35%(high expression defined as≥20%in this study).Hotspot PIK3CA mutations(H1047R,E545K,E542K)were identified in 4 of 5 cases,and one case also harbored a TP53 mutation.Conclusion Invasive micropapillary carcinoma(IMPC)demonstrates distinctive histomorphologic and immunophenotypic features.The detection rate of PIK3CA mutations was relatively high(4/5)in this case series.Integration of morphologic assessment and molecular testing aids in the recognition of this subtype and in therapeutic decision-making.This study is descriptive in nature without inferential statistics.
作者
吴晋蓉
唐澜
戚晓瑜
WU Jinrong;TANG Lan;QI Xiaoyu(Department of Pathology,Women's Hospital of Nanjing Medical University,Nanjing Women and Children's Healthcare Hospital,Nanjing 210004,China)
出处
《诊断病理学杂志》
2026年第2期225-229,共5页
Chinese Journal of Diagnostic Pathology
基金
江苏省卫生健康委科研项目(编号:Z2022048)。
关键词
乳腺癌
浸润性微乳头状癌
PIK3CA
分子病理
免疫组织化学
NGS
Luminal型
Breast carcinoma
Invasive micropapillary carcinoma
PIK3CA
Molecular pathology
Immunohistochemistry
Next-generation sequencing
Luminal subtype
