乳腺腺肌上皮肿瘤10例临床病理及分子遗传学分析  

Epithelial-myoepithelial tumors of breast:a clinicopathological and molecular genetic analysis analysis of 10 cases

作　　者：陈翔宇 石海燕[1] 吕炳建[1] Chen Xiangyu;Shi Haiyan;Lyu Bingjian(Department of Pathology,Women’s Hospital,School of Medicine,Zhejiang University,Hangzhou 310000,China)

机构地区：[1]浙江大学医学院附属妇产科医院病理科,杭州310000

出　　处：《临床与实验病理学杂志》2025年第4期438-443,共6页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨乳腺腺肌上皮肿瘤的临床病理特征及诊断。方法收集10例乳腺腺肌上皮肿瘤,分析其临床特征,病理形态、免疫表型及分子遗传学特征。结果10例患者均为女性,发病年龄27~49岁,肿块最大径1.5~6.0 cm。其中8例为乳腺腺肌上皮瘤(adenomyoepithelioma,AME),1例为非典型AME,1例为恶性腺肌上皮瘤(malignant adenomyoepithelioma,AME-M),患者在接受治疗后随访4~64个月均未见肿瘤复发及转移。10例腺肌上皮肿瘤镜下均由增生的腺上皮和肌上皮组成,以肌上皮增生为主,非典型AME中肌上皮细胞轻-中度异型,局部见核分裂象(3个/10 HPF);AME-M具有结节样区域和囊性病变区域,结节样区域肌上皮细胞中-重度异型,核分裂象较活跃(6~8个/10 HPF)并见坏死,局部见鳞状细胞癌成分,诊断为上皮-肌上皮癌,囊性区域见乳头状鳞状细胞癌并累及小叶,周围乳腺见导管原位癌成分。AME中腺上皮细胞表达CK8/18及CK7,肌上皮细胞表达p63、CD10及SMA,Ki67增殖指数均<10%;非典型AME中Ki67增殖指数40%;AME-M中上皮-肌上皮癌成分约80%,而鳞状细胞癌成分约70%。其中6例AME及1例非典型AME经Sanger测序未发现HRAS和PIK3CA热点突变,AME-M中的上皮-肌上皮癌和鳞状细胞癌成分经手工切割-焦磷酸测序未发现AKT1、KRAS、HRAS和PIK3CA热点突变,而在周围导管原位癌中发现了1个KRAS(c.183A>C/T,p.Q61H)热点突变。22个短串联重复位点分子遗传学分析发现上皮-肌上皮癌和乳头状鳞状细胞癌呈相同的基因型,均在D19S433位点上发生了杂合子缺失。结论AME形态多样,腺上皮和肌上皮双相增生为其组织学诊断特征,分子检测表明AME-M的克隆起源不同于并存的导管原位癌。Purpose To investigate the clinicopathological features and diagnosis of breast epithelial-myoepithelial tumors.Methods Collect 10 cases of breast epithelial-myoepithelial tumors.Clinical features,histopathologic features,immunophenotype,and molecular characteristics were analyzed.Results All patients were female,aged 27-49 years,and the maximum diameter of the mass was 1.5 to 6.0 cm.Among them,8 cases were diagnosed as adenomyoepithelioma(AME)of the breast,1 case as atypical AME,and 1 case as malignant adenomyoepithelioma(AME-M).All ten patients were alive with no evidence of disease or metastasis,with follow-up periods ranging from 4 to 64 months.All epithelial-myoepithelial tumors consisted of proliferative epithelial and myoepithelial cells,with myoepithelial hyperplasia being the predominant component.In the atypical AME case,myoepithelial cells exhibited mild to moderate atypia,with mitotic figures observed occasionally(3/10 HPF).AME-M was composed of solid and cystic areas.In the solid area,myoepithelial cells exhibited moderate to severe atypia with a high mitotic rate(6-8/10 HPF).Additionally,necrosis and areas of squamous cell carcinoma were present,leading to a diagnosis of epithelial-myoepithelial carcinoma.Papillary squamous cell carcinoma was found in cystic area and it involved the adjacent lobules.The peripheral breast tissue contained focal ductal carcinoma in situ.The luminal epithelial cells showed expression of CK8/18 and CK7.The myoepithelial cells showed expression of p63,CD10,and SMA.The Ki67 index was less than 10% in AME,40% in atypical AME.In the AME-M,it was 80%in the epithelial-myoepithelial carcinoma component,and 70% in the papillary squamous cell carcinoma component.Sanger sequencing of 6 cases AME and 1 case atypical AME revealed no hotspot mutations in HRAS or PIK3CA.In one case of AME-M,pyrosequencing indicated no hotspot mutations of AKT1,KRAS,HRAS,and PIK3CA in the components of epithelial-myoepithelial carcinoma and papillary squamous cell carcinoma while one KRAS(c.183A>C/T,p

关 键 词：乳腺肿瘤 腺肌上皮瘤 鳞状细胞癌 分子检测 

分 类 号：R737.9[医药卫生—肿瘤]