Komisarof Justin, Qiu Haoming, Velez Moises J, Mulford Deborah
Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.
Department of Radiation Oncology, University of Rochester Medical Center, Rochester, NY 14642, USA.
Mol Clin Oncol. 2021 Feb;14(2):34. doi: 10.3892/mco.2020.2196. Epub 2020 Dec 22.
Large cell neuroendocrine carcinoma (LCNEC) is a rare and aggressive cancer that typically presents in the lung. The current case report describes a 56 year old male who presented to Strong Memorial Hospital with progressive dyspnea and was revealed to have a large anterior mediastinal tumor with metastases to axillary, hilar and mediastinal lymph nodes. Tumor marker results revealed an elevated plasma level of α-fetoprotein (AFP), which initially pointed towards a diagnosis of teratoma, but the tumor stained positive for neuroendocrine markers CD56, chromogranin, and synaptophysin on biopsy, consistent with LCNEC. AFP-positive tumor cells were identified, and no alternate cause for the elevated AFP was identified. The patient underwent genetic testing revealing the tumor to be ALK, ROS1, KRAS, BRAF and EGFR wild type. The patient received 6 cycles of chemotherapy with cisplatin (80 mg/m) and etoposide (100 mg/m) and then radiation with an initial minor response. The patients course was complicated by the development of superior vena cava syndrome requiring emergency stenting. The results of the current case suggest that AFP may be worthy of further exploration as a potential tumor marker in LCNEC.
大细胞神经内分泌癌(LCNEC)是一种罕见且侵袭性强的癌症,通常发生于肺部。本病例报告描述了一名56岁男性,因进行性呼吸困难就诊于斯特朗纪念医院,检查发现其前纵隔有一个大肿瘤,并已转移至腋窝、肺门和纵隔淋巴结。肿瘤标志物检测结果显示血浆甲胎蛋白(AFP)水平升高,最初提示畸胎瘤诊断,但活检时肿瘤神经内分泌标志物CD56、嗜铬粒蛋白和突触素染色呈阳性,符合LCNEC。发现了AFP阳性肿瘤细胞,且未发现AFP升高的其他原因。患者接受基因检测,结果显示肿瘤为ALK、ROS1、KRAS、BRAF和EGFR野生型。患者接受了6个周期的顺铂(80mg/m)和依托泊苷(100mg/m)化疗,随后进行放疗,最初反应较小。患者病情因上腔静脉综合征的出现而复杂化,需要紧急置入支架。本病例结果表明,AFP作为LCNEC潜在肿瘤标志物可能值得进一步探索。