Altunel Erdem, Perepletchikov Aleksandr, Kozyreva Olga
Department of Medicine, Saint Elizabeth's Medical Center, Boston, Massachusetts, USA.
Department of Medicine, Division of Medical Oncology, Dana Farber Cancer Institute at Saint Elizabeth's Medical Center, Boston, Massachusetts, USA.
Case Rep Oncol Med. 2020 Aug 8;2020:9056209. doi: 10.1155/2020/9056209. eCollection 2020.
Syringocystadenocarcinoma papilliferum (SCACP) is an extremely rare cutaneous neoplasm of the apocrine or eccrine sweat glands. Solid and cystic glandular structures with cribriform and tubular architecture along with CK5/6, pankeratin and p63 immuno-profile set apart SCACP from other cutaneous malignancies. Wide local excision (WLE) has been the mainstay treatment for localized SCACP; however, no standard treatment has yet been established for unresectable or metastatic disease. Herein, we report a 74-year-old male with SCACP, who initially presented with a painful nodule on the upper back and later developed metastatic disease. He was treated with carboplatin and paclitaxel with concurrent intensity-modulated radiation therapy (IMRT), which resulted in disease stabilization for 12 months. Next generation sequencing (NGS) revealed a total of 18 genomic alterations associated with potential benefit from targeted therapeutics. PD-L1 expression was identified in 70% of tumor cells. These findings suggest that the opportunity of targeted therapeutics and immunotherapy exist as for metastatic SCACP. Reporting molecular profile of the rare tumors with no established standard treatment options should be encouraged.
乳头状汗腺囊腺癌（SCACP）是一种极其罕见的顶泌汗腺或小汗腺皮肤肿瘤。实性和囊性腺性结构以及筛状和管状结构，连同细胞角蛋白5/6、全角蛋白和p63免疫表型，将SCACP与其他皮肤恶性肿瘤区分开来。广泛局部切除（WLE）一直是局限性SCACP的主要治疗方法；然而，对于不可切除或转移性疾病，尚未确立标准治疗方案。在此，我们报告一名74岁患有SCACP的男性，他最初表现为上背部疼痛性结节，后来发展为转移性疾病。他接受了卡铂和紫杉醇联合同期调强放射治疗（IMRT），疾病稳定了12个月。二代测序（NGS）共发现18种与靶向治疗潜在获益相关的基因组改变。在70%的肿瘤细胞中检测到程序性死亡受体配体1（PD-L1）表达。这些发现表明，转移性SCACP存在靶向治疗和免疫治疗的机会。对于尚无既定标准治疗方案的罕见肿瘤，应鼓励报告其分子特征。
