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[乳腺肌纤维母细胞瘤:15例临床病理分析]

[Mammary myofibroblastoma: a clinicopathological analysis of fifteen cases].

作者信息

Ren H Y, He X, Lyu H, Huang H F, Liu Y Q, Wei N, Zhang L, Li W C, Li H X

机构信息

Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Department of Pathology, College of Basic Medical Sciences, Zhengzhou University, Zhengzhou 450052, China.

Department of Pathology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.

出版信息

Zhonghua Bing Li Xue Za Zhi. 2023 Jul 8;52(7):683-689. doi: 10.3760/cma.j.cn112151-20221228-01075.

Abstract

To investigate the clinicopathological features, diagnosis and differential diagnosis of breast myofibroblastoma. The clinicopathological data and prognostic information of 15 patients with breast myofibroblastoma diagnosed at the Department of Pathology of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China from 2014 to 2022 were collected. Their clinical characteristics, histological subtypes, immunophenotypes and molecular characteristics were analyzed. There were 12 female and 3 male patients, ranging in age from 18 to 78 years, with a median and average age of 52 years. There were 6 cases in the left breast and 9 cases in the right breast, including 12 cases in outer upper quadrant, 2 cases in inner upper quadrant and 1 case in outer lower quadrant. Most of the cases showed a well-defined nodule grossly, including pushing growth under the microscope in 13 cases, being completely separated from the surrounding breast tissue in 1 case, and infiltrating growth in 1 case. Among them, 12 cases were classic subtype and composed of occasional spindle cells with varying intervals of collagen fiber bundles; eight cases had a small amount of fat; one case had focal cartilage differentiation; one case was epithelioid subtype, in which epithelioid tumor cells were scattered in single filing or small clusters; one case was schwannoma-like subtype, and the tumor cells were arranged in a significant palisade shape, resembling schwannoma, and one case was invasive leiomyoma-like subtype, in which the tumor cells had eosinophilic cytoplasm and were arranged in bundles, and infiltrating into the surrounding mammary lobules like leiomyoma. Immunohistochemical studies showed that the tumor cells expressed desmin (14/15) and CD34 (14/15), as well as ER (15/15) and PR (15/15). Three cases with histologic subtypes of epithelioid subtype, schwannoma-like subtype and infiltrating leiomyoma-like subtype showed RB1 negative immunohistochemistry. Then FISH was performed to detect RB1/13q14 gene deletion, and identified RB1 gene deletion in all three cases. Fifteen cases were followed up for 2-100 months, and no recurrence was noted. Myofibroblastoma is a rare benign mesenchymal tumor of the breast. In addition to the classic type, there are many histological variants, among which the epithelioid subtype is easily confused with invasive lobular carcinoma. The schwannoma-like subtype is similar to schwannoma, while the invasive subtype is easily misdiagnosed as fibromatosis-like or spindle cell metaplastic carcinoma. Therefore, it is important to recognize the various histological subtypes and clinicopathological features of the tumor for making correct pathological diagnosis and rational clinical treatment.

摘要

探讨乳腺肌纤维母细胞瘤的临床病理特征、诊断及鉴别诊断。收集2014年至2022年在中国郑州郑州大学第一附属医院病理科诊断的15例乳腺肌纤维母细胞瘤患者的临床病理资料及预后信息。分析其临床特征、组织学亚型、免疫表型及分子特征。患者中女性12例,男性3例,年龄18~78岁,中位年龄和平均年龄均为52岁。左侧乳腺6例,右侧乳腺9例,其中外上象限12例,内上象限2例,外下象限1例。大部分病例大体上表现为边界清晰的结节,镜下13例呈推挤性生长,1例与周围乳腺组织完全分离,1例呈浸润性生长。其中,12例为经典型,由散在的梭形细胞和不同间隔的胶原纤维束组成;8例含有少量脂肪;1例有局灶性软骨化生;1例为上皮样型,上皮样肿瘤细胞呈单行或小巢状散在分布;1例为神经鞘瘤样型,肿瘤细胞呈明显的栅栏状排列,类似神经鞘瘤;1例为浸润性平滑肌瘤样型,肿瘤细胞有嗜酸性细胞质,呈束状排列,像平滑肌瘤一样浸润周围乳腺小叶。免疫组化研究显示,肿瘤细胞表达结蛋白(14/15)和CD34(14/15),以及雌激素受体(ER,15/15)和孕激素受体(PR,15/15)。上皮样型、神经鞘瘤样型和浸润性平滑肌瘤样型这3例组织学亚型的病例免疫组化显示RB1阴性。随后进行荧光原位杂交(FISH)检测RB1/13q14基因缺失,3例均检测到RB1基因缺失。15例患者随访2~100个月,均无复发。乳腺肌纤维母细胞瘤是一种罕见的乳腺良性间叶性肿瘤。除经典型外,还有多种组织学变异型,其中上皮样型易与浸润性小叶癌混淆。神经鞘瘤样型与神经鞘瘤相似,而浸润性亚型易误诊为纤维瘤病样或梭形细胞化生癌。因此,认识该肿瘤的各种组织学亚型及临床病理特征对于做出正确的病理诊断和合理的临床治疗具有重要意义。

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