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乳腺巨大皮肤Merkel细胞癌1例

Giant Merkel cell carcinoma of the breast:A case report
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摘要 Merkel细胞癌(Merkel cell carcinoma,MCC)是一种罕见的高度恶性皮肤神经内分泌肿瘤,好发于阳光照射部位。聊城市第二人民医院于2023年6月收治1例罕见的乳腺皮肤MCC患者,对其进行细针穿刺细胞学、组织学形态及免疫表型特点的观察,并在术后开展临床随访及相关文献分析。细针穿刺细胞学检查显示细胞呈小圆蓝形态,这些细胞黏附性差,大小均一,细胞质稀少,高核质比,核仁不明显,染色质细腻或呈胡椒盐样,可见核切迹。细胞蜡块检查显示肿瘤细胞呈实性巢团状,染色质呈细颗粒状,核分裂和核碎裂易见。术后组织学检查发现肿瘤位于真皮及皮下,肿瘤细胞呈深染的实性巢团,坏死明显,局部可见菊形团结构。免疫组织化学染色结果显示肿瘤细胞表达神经内分泌标志物胰岛素瘤相关蛋白1(insulinoma-associated protein 1,INSM1)、突触素(synapsin,Syn),部分表达神经细胞黏附分子(neural cell adhesion molecule,CD56)、嗜铬粒蛋白A(chromogranin A,CgA),广谱的细胞角蛋白(cytokeratin,CK)、CK20呈现特征性的核旁点状阳性。患者术后经过化疗及免疫治疗,随访11个月未见复发。乳腺皮肤MCC十分罕见,具有高侵袭性,尚无统一的治疗标准,预后差。本研究通过对乳腺皮肤MCC的细针穿刺细胞学、组织学及免疫表型特征的系统分析,为该罕见肿瘤的早期诊断提供了关键影像学及病理学依据。同时,随访结果揭示了术后联合治疗的潜在疗效,为进一步优化个体化治疗方案、改善患者预后提供了临床参考数据。 Merkel cell carcinoma(MCC)is a rare and highly malignant cutaneous neuroendocrine tumor,typically occurring in sun-exposed areas.We report a case of MCC arising in the breast skin,diagnosed in June 2023 at Second People’s Hospital of Liaocheng.The tumor was evaluated using fine-needle aspiration cytology,histopathological examination,and immunohistochemical analysis,followed by clinical follow-up and literature review.Cytological findings revealed small,round,blue cells with poor cohesion,uniform size,scant cytoplasm,and a high nuclear-to-cytoplasmic ratio.The nuclei exhibited inconspicuous nucleoli,fine chromatin,and occasional nuclear grooves.Cell block preparations showed tumor cells arranged in solid nests with granular chromatin,frequent mitoses,and nuclear fragmentation.Histopathological examination demonstrated tumor involvement in the dermis and subcutaneous tissue,with tumor cells forming hyperchromatic solid nests,prominent necrosis,and focal rosette-like structures.Immunohistochemically,the tumor cells expressed neuroendocrine markers insulinoma associated protein 1(INSM 1)and synaptophysin(Syn),with partial expression of neural cell adhesion molecule(CD 56)and chromogranin A(CgA).Broad-spectrum cytokeratin(CK)and CK 20 showed characteristic paranuclear dot-like positivity.The patient underwent postoperative chemotherapy and immunotherapy,with no recurrence observed during the 11-month follow-up period.MCC of the breast skin is exceedingly rare,highly aggressive,and lacks standardized treatment guidelines,often resulting in a poor prognosis.Through systematic analysis of the cytological,histological,and immunophenotypic features of breast skin MCC,this case report offers crucial radiological and pathological evidence for early diagnosis of this rare tumor.The follow-up findings reveal the potential efficacy of postoperative combined therapy,providing clinical reference data for further optimizing individualized treatment regimens and improving patient prognosis.
作者 史晓兰 宋艳芳 马青松 马广贞 SHI Xiaolan;SONG Yanfang;MA Qingsong;MA Guangzhen(Department of Pathology,Second People’s Hospital of Liaocheng(Liaocheng Second Hospital Affiliated to Shandong First Medical University),Liaocheng 252600,China)
出处 《临床与病理杂志》 2025年第2期248-255,共8页 Journal of Clinical and Pathological Research
关键词 MERKEL细胞癌 乳腺 皮肤 免疫组织化学 鉴别诊断 Merkelcell carcinoma breast skin immunohistochemistry differential diagnosis
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