以微囊状形态为主的乳腺分泌性癌2例报告及文献复习

doi:10.16150/j.1671-2870.2025.03.015

摘要/Abstract

摘要：

乳腺分泌性癌（secretory carcinoma of breast,SCB）是一种罕见的乳腺涎腺型恶性肿瘤。本文报道我院2019年至2023年收治的2例SCB女性患者，均表现为乳腺肿块。乳腺B超检查分别提示为乳腺影像报告和数据系统（BI-RADS）Ⅲ类的不均匀高回声结节和BI-RADS Ⅳa类的低回声结节。组织病理检查显示，2例肿瘤最大径分别为13 mm、14 mm，切面呈灰白色，质地中等，边界清晰；肿瘤细胞呈轻-中度异型，核圆形或卵圆形，见单个小核仁，细胞质嗜酸或空泡状，排列呈微囊状、实性或乳头状，部分呈囊性高分泌性病变组织形态，腔内见嗜伊红分泌物，间质纤维组织增生伴玻璃样变性；免疫组织化学检测示肿瘤细胞表达S100、pan-TRK、CD117、CK5/6、GATA3，低表达ER、AR，不表达GCDFP-15、PR及HER-2，Ki-67增殖指数约5%；阿尔辛蓝染色及过碘酸希夫染色示，细胞质内及细胞外存在染色阳性分泌物。分子检测示，2例患者均存在ETV6-NTRK3基因融合。中英文文献复习示2020年至2024年期间，共报道SCB患者438例，其中临床病理及免疫表型等资料较完整病例80例。本文针对这80例SCB临床病理特征、免疫表型及分子改变，结合本院2例SCB患者资料共82例进行总结，结果发现该类肿瘤S100、pan-TRK及GATA3的表达率分别为97%、95%、100%，约50%的病例低或中等强度表达ER，约20%的病例低表达PR，HER2通常阴性；分子检测提示98%的病例伴特征性ETV6-NTRK3基因改变，有2例病例同时伴有TERT启动子或PDGFR突变。

关键词: 乳腺分泌性癌, 临床病理, 免疫表型, 分子检测

Abstract:

Secretory carcinoma of breast (SCB) is a rare salivary gland-type malignant tumor of the breast. This study reports two female patients with SCB admitted between 2019 and 2023, both presenting with breast masses. Breast ultrasonography indicated a BI-RADS category Ⅲ heterogeneous hyperechoic nodule in one case and a BI-RADS category Ⅳa hypoechoic nodule in the other. Histopathological examination showed that the maximum tumor diameters were 13 mm and 14 mm, respectively, with grayish-white cut surfaces, moderate consistency, and well-defined margins. Tumor cells exhibited mild to moderate atypia, with round or oval nuclei and a single small nucleolus. The cytoplasm was eosinophilic or vacuolated, and cells were arranged in microcystic, solid, or papillary patterns, with some showing cystic, hypersecretory lesion morphology. Eosinophilic secretions were observed within the lumens, and stromal fibrous tissue hyperplasia with hyaline degeneration was noted. Immunohistochemistry showed tumor cell expression of S100, pan-TRK, CD117, CK5/6, and GATA3, with low expression of ER and AR, and no expression of GCDFP-15, PR, or HER2. The Ki-67 proliferation index was approximately 5%. Alcian blue staining and periodic acid-Schiff staining showed positively stained secretions both within the cytoplasm and extracellularly. Molecular testing showed ETV6-NTRK3 gene fusion in both patients. A literature review of Chinese and English publications from 2020 to 2024 revealed 438 reported SCB cases, among which 80 had relatively complete clinicopathological and immunophenotypic data. This study summarized the clinicopathological characteristics, immunophenotypes, and molecular alterations of the 80 cases together with the two cases from our hospital, totaling 82 cases. The results showed expression rates of S100, pan-TRK, and GATA3 at 97%, 95%, and 100%, respectively. Approximately 50% of the cases showed low to moderate ER expression, about 20% showed low PR expression, and HER2 was generally negative. Molecular testing indicated that 98% of the cases had the characteristic ETV6-NTRK3 gene fusion, and two cases also had TERT promoter or PDGFR mutations.

Key words: Secretory carcinoma of breast, Clinical pathology, Immunophenotype, Molecular testing

中图分类号:

魏静静, 银浩强, 王延文, 张晓云. 以微囊状形态为主的乳腺分泌性癌2例报告及文献复习[J]. 诊断学理论与实践, 2025, 24(03): 349-354.

WEI Jingjing, YIN Haoqiang, WANG Yanwen, ZHANG Xiaoyun. Secretory carcinoma of breast with predominant microcystic morphology： report of two cases and literature review[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(03): 349-354.

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临床病理、免疫表型及分子特征	数据/例数
中位年龄（范围）	43岁（3~85岁）
男性/女性(n)	1∶20
病理特征[n（%）]
微囊/蜂窝状	76（95%）
腺样/腺管状	61（76%）
实性	50（64%）
乳头状	46（58%）
免疫指标[n（%）]
ER	43（52%）
PR	15（18%）
HER2	2（2%）
Ki-67≤15%	41（70%）
S100	71（97%）
CK5/6	24（80%）
Pan-TRK	35（95%）
EGFR	6（60%）
CD117	11（65%）
GCDFP15	5（20%）
GATA3	16（100%）
基因改变[n（%）]
ETV6-NTRK3改变	58（98%）
伴PDGFR突变	1（1%）
伴TERT启动子突变	1（1%）