Boutrid Hinda, Kassem Mahmoud, Tozbikian Gary, Morgan Evan, White Julia, Shah Manisha, Vandeusen Jeffrey, Sardesai Sagar, Williams Nicole, Stover Daniel G, Lustberg Maryam, Wesolowski Robert, Pudavalli Vinay, Williams Terence M, Konda Bhavana, Fortier Stephanie, Carbone David, Ramaswamy Bhuvaneswari, Cherian Mathew A
Stefanie Spielman Comprehensive Breast Cancer, The Ohio State University, Columbus, OH, United States.
Division of Medical Oncology, Comprehensive Cancer Center, The Ohio State University Medical Center, Columbus, OH, United States.
Front Endocrinol (Lausanne). 2020 Apr 29;11:228. doi: 10.3389/fendo.2020.00228. eCollection 2020.
Primary small cell carcinoma of the breast (SCCB) is a rare tumor subtype comprising <0.1% of all breast carcinomas. Here we present a case of thyroid transcription factor-1 (TTF-1) positive SCCB that recurred within 3 years of diagnosis in the lung and lymph nodes. Given the small number of cases, no clear guidelines exist on the appropriate management of patients with these aggressive tumors. We present a case study and review the current literature to highlight the knowledge gaps and needs of patients with these rare tumors. A 50-year-old premenopausal woman with no family history, presented with a palpable right breast mass. Biopsy was consistent with primary SCCB that was poorly differentiated, positive for synaptophysin and chromogranin and TTF-1 and presence of ductal carcinoma component showing neuroendocrine differentiation. Imaging with PET, CT, and MRI brain excluded any other sites of primary disease. She underwent a right lumpectomy with axillary lymph node dissection and was treated with adjuvant cisplatin-based chemotherapy and concurrent radiation therapy. Thirty-four months later, routine scans showed a new right lower-lobe lung nodule and an enlarged sub-carinal node that was proven to be poorly differentiated neuroendocrine cancer. This case report sheds light on a rarely described disease and provides a comprehensive approach to diagnosis and management. Primary SCCB is an extremely rare, aggressive form of breast cancer that is molecularly and histologically similar to SCLC. However, a review of the literature highlights recent mutational analyses that show important differences between these two cancer types, including an increase in PIK3CA mutations in primary SCCB. Further studies, including genomic analyses are needed to better define this malignancy and to develop a standard treatment.
原发性乳腺小细胞癌（SCCB）是一种罕见的肿瘤亚型，在所有乳腺癌中占比不到0.1%。在此，我们报告一例甲状腺转录因子-1（TTF-1）阳性的SCCB病例，该病例在诊断后3年内出现肺和淋巴结复发。鉴于病例数量较少，对于这类侵袭性肿瘤患者的适当管理尚无明确指南。我们呈现一个病例研究并回顾当前文献，以突出这些罕见肿瘤患者的知识空白和需求。一名50岁无家族史的绝经前女性，因可触及的右乳肿块就诊。活检结果与原发性SCCB一致，该肿瘤分化差，突触素、嗜铬粒蛋白和TTF-1呈阳性，且存在显示神经内分泌分化的导管癌成分。PET、CT和脑部MRI检查排除了其他原发性疾病部位。她接受了右乳房肿块切除术及腋窝淋巴结清扫术，并接受了以顺铂为基础的辅助化疗和同步放疗。34个月后，常规扫描显示右肺下叶出现一个新的结节以及隆突下淋巴结肿大，经证实为低分化神经内分泌癌。本病例报告揭示了一种罕见描述的疾病，并提供了全面的诊断和管理方法。原发性SCCB是一种极其罕见、侵袭性的乳腺癌形式，在分子和组织学上与小细胞肺癌相似。然而，文献回顾突出了近期的突变分析，显示这两种癌症类型之间存在重要差异，包括原发性SCCB中PIK3CA突变增加。需要进一步研究，包括基因组分析，以更好地定义这种恶性肿瘤并制定标准治疗方案。
