Pohlodek Kamil, Mečiarová Iveta, Grossmann Petr, Martínek Petr, Kinkor Zdeněk
2nd Department of Gynecology and Obstetrics, Faculty of Medicine, Comenius University of Bratislava, Slovakia.
Alpha Medical Pathology Ltd., Bratislava, Slovakia.
Int J Surg Case Rep. 2019;56:74-77. doi: 10.1016/j.ijscr.2019.02.029. Epub 2019 Feb 28.
Secretory breast carcinoma (SBC) is a rare breast tumor which accounts for < 0.15% of all breast cancers. It was originally described as a juvenile breast carcinoma, occurring in young children and adolescent women. SBC is associated with a characteristic balanced translocation, t(12;15), that creates aETV6-NTRK3 gene fusion.
A 52-year-old Caucasian woman had palpable lump in her right breast. After breast imaging examination (BI-RADS 4b) and preoperative core-needle biopsy with suspicion of SBC a breast conserving therapy was performed. The diagnosis of SBC was confirmed through immunohistochemistry and cytogenetic examination of the tumor. The patient is now 22 months post‑surgery and remains disease‑free.
Recent studies reported that the disease occurs at a later age than previously recognized, and is associated with good long-term survival. In breast imaging it may mimic a benign tumor. Immunohistochemistry and cytogenetic analysis of the tumor are crucial for confirmation of SBC.
There is no consensus with regard to the best treatment strategy for patients with SBC. Breast conserving therapy with sentinel lymph nodes biopsy is at present the first choice treatment. Further research for a specific NTRK3 tyrosine kinase inhibitor could lead to the discovery of a new targeted treatment of this tumor.
分泌性乳腺癌(SBC)是一种罕见的乳腺肿瘤,占所有乳腺癌的比例不到0.15%。它最初被描述为一种青少年乳腺癌,发生于儿童和青春期女性。SBC与一种特征性的平衡易位t(12;15)相关,该易位产生ETV6-NTRK3基因融合。
一名52岁的白人女性右乳可触及肿块。在进行乳腺影像检查(BI-RADS 4b)并经术前粗针活检怀疑为SBC后,实施了保乳治疗。通过对肿瘤进行免疫组织化学和细胞遗传学检查确诊为SBC。患者目前术后22个月,无疾病复发。
最近的研究报告称,该疾病的发病年龄比之前认为的要晚,且与良好的长期生存率相关。在乳腺影像检查中,它可能类似良性肿瘤。对肿瘤进行免疫组织化学和细胞遗传学分析对于确诊SBC至关重要。
对于SBC患者的最佳治疗策略尚无共识。目前,保乳治疗加前哨淋巴结活检是首选治疗方法。对特定的NTRK3酪氨酸激酶抑制剂进行进一步研究可能会发现针对这种肿瘤的新的靶向治疗方法。