- 期刊
A Rapidly Lethal Primitive Neuroectodermal Tumor of the Mediastinum in a 27-Year-Old Male
在一個27歲的男性出現快速致命的縱膈腔原始性神經外胚層腫瘤
摘要
27歲男性，無過去病史，這兩周來有呼吸喘加劇的情況，伴隨著發燒，運動後喘，夜喘，乾咳和胸悶的現象，來門診求診。胸腔X光攝影發現左側肺野有大片不透光區塊，懷疑有巨大腫瘤伴隨積水。電腦斷層證實有一個巨大的後縱膈腔腫瘤。核磁共振顯示腫瘤攝取氟代去氧葡萄糖（FDG）並顯影。電腦斷層定位切片的病理顯示小藍圓細胞瘤，免疫染色CD99有反應，螢光原位雜和技術（FISH）顯示EWSR122g12基因重置，診斷為原始性神經外胚層腫瘤。雖然我們給予了積極的化學治療，病人仍在三個月後因腫瘤惡化死亡。透過整理這個案例，我們回溯過去一系列相似的個案，也突顯此疾病診斷的相當困難且治療極富挑戰。
關鍵字
原始性神經外胚層腫瘤並列摘要
A 27-year-old male with an unremarkable medical history presented with progressive dyspnea for about 2 weeks. He also complained of mild fever, exertional dyspnea, paroxysmal nocturnal dyspnea, dry cough and chest tightness. Chest radiograph in the chest clinic of our hospital revealed a large opacity at the left lower lung field, suggesting a large mass with massive pleural effusion. Computed tomography revealed a huge posterior inferior mediastinal mass, and positron emission tomography revealed high fluorodeoxyglucose uptake in the mass. A pathological examination of the specimens from a computed tomography-guided biopsy showed a small blue round cell tumor, positive for CD99, and fluorescence in situ hybridization revealed a Ewing' sarcoma breakpoint region 1 22q12 rearrangement, favoring a primitive neuroectodermal tumor. Despite aggressive palliative chemotherapy, the patient died 3 months later due to uncontrolled malignant disease. Through this case and a review of similar cases in the literature, we highlight the difficulty in making a timely diagnosis and discuss the challenges of treatment.
延伸閱讀
- Yau, W. H., Fong, Y., Lin, C. N., & Shieh, J. M. (2012). 肺動靜脈畸形仿似孤立性肺結節，CT引導下細針穿刺切片可能引起致命的併發症：一病例報告. 胸腔醫學, 27(2), 88-93. https://doi.org/10.29806/TM.201204.0003
- Chan, S. C., Wong, M. C., Huang, S. F., Lo, W. C., Cheung, Y. C., & Ng, S. H. (2002). 侵犯前縱隔腔，肺及肝的Langerhans細胞組織症：電腦斷層的表現. 中華放射線醫學雜誌, 27(4), 191-195. https://www.airitilibrary.com/Article/Detail?DocID=10188940-200208-27-4-191-195-a
- Tsai, F. T., Chen, C. H., Liu, H. P., & Tsai, Y. H. (2005). 胸內惡性周邊神經鞘腫瘤併快速復發－病例報告. 胸腔醫學, 20(6), 664-669. https://doi.org/10.29806/TM.200512.0022
- Tzeng, Y. H., Lan, G. Y., Chung, M. T., & Fu, J. J. (2001). 原發性縱膈腔血管外皮細胞瘤：病例報告. 中華放射線醫學雜誌, 26(2), 91-96. https://www.airitilibrary.com/Article/Detail?DocID=10188940-200104-26-2-91-96-a
- Chen, Y. H., Chen, Y. Y., Huang, H. K., Hsieh, C. M., Huang, T. W., Chang, H., & Lee, S. C. (2016). 一個以後縱膈腔腫瘤形式呈現胸腔內軟骨肉瘤的罕見病例. 胸腔醫學, 31(2), 128-134. https://www.airitilibrary.com/Article/Detail?DocID=10239855-201604-201603300025-201603300025-128-134