Briers Marth, Mylemans Marnix, Tousseyn Thomas, Lai Lo Man, Tajdar Mercedeh, Van Laer Christine
Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
Department of Pathology, University Hospitals Leuven, Leuven, Belgium.
Lab Med. 2025 Jan 6;56(1):101-104. doi: 10.1093/labmed/lmae068.
Carcinocythemia, known as the presence of circulating tumor cells in the peripheral blood, is difficult to detect when the carcinoma cells are minimally present. We describe a case of a 56-year-old patient presenting with disseminated intravascular coagulation (DIC) and multiple organ failure. Despite initial suspicion of sepsis, a peripheral blood smear showed the presence of atypical cells, mainly located at the feathered edge, leading to a presumptive diagnosis of carcinocythemia of unknown primary origin. The presence of a high-fluorescent cell population detected by our hematology analyzer (Sysmex XN-9100) and immunohistochemical staining with pancytokeratin AE1/AE3 confirmed the carcinoma cell origin. The patient died 4 days after referral to our hospital. Postmortem examination revealed a pleomorphic lobular breast carcinoma (triple-negative, androgen receptor-negative). Given the clinical acuity of patients with carcinocythemia, early diagnosis is essential to guide management. This case underscores the importance of optimizing current workflows relying on complex flagging algorithms and enhanced digital imaging to aid in the early detection of such rare condition. When patients present with DIC of unknown origin and high fluorescent signals are detected on the hematology analyzer, carcinocythemia should actively be ruled out by extensive microscopic peripheral blood examination.
癌细胞血症是指外周血中存在循环肿瘤细胞,当癌细胞数量极少时很难检测到。我们描述了一例56岁患者,其出现弥散性血管内凝血(DIC)和多器官功能衰竭。尽管最初怀疑是败血症,但外周血涂片显示存在非典型细胞,主要位于血涂片边缘,初步诊断为原发性不明的癌细胞血症。我们的血液分析仪(Sysmex XN - 9100)检测到高荧光细胞群,并用全细胞角蛋白AE1/AE3进行免疫组化染色,证实了癌细胞的来源。该患者转诊至我院4天后死亡。尸检显示为多形性小叶乳腺癌(三阴性,雄激素受体阴性)。鉴于癌细胞血症患者的临床急症情况,早期诊断对于指导治疗至关重要。本病例强调了优化当前依赖复杂标记算法和增强数字成像的工作流程以帮助早期检测这种罕见病症的重要性。当患者出现不明原因的DIC且血液分析仪检测到高荧光信号时,应通过广泛的外周血显微镜检查积极排除癌细胞血症。