- 期刊
Malignant Transformation of the Plexiform Neurofibroma in a Neurofibromatosis Type 1 Patient-A Case Report and Literatures Review
纖維瘤症候群亞型一病人的巨型纖維瘤之惡性癌變－個案報告及相關文獻之回顧
摘要
纖維瘤症候群亞型一(Neurofibromatosis type I)是一種顯性遺傳疾病，在西方人其發生率約為三千分之一，其特徵是神經纖維瘤、咖啡色皮膚班以及利氏小結。目前的了解是第十七對染色體發生變化，而該基因（稱為 NF1基因）為一致癌基因，當此基因發生突變時，病人癌變的機會比一般人高，惡性神經腱鞘瘤即可能是神經纖維瘤癌變而來。治療仍以外科手術切除為主，放射治療及化學治療的效果不佳。 目前纖維瘤症候群亞型一仍是依臨床症狀診斷，至於分子生物遺傳學的研究以提供產前診段及基因治療的新方向，但是仍有許多困難點，例如產前診斷仍無法預測將來發病後症狀的嚴重度；而基因治療要走的路更長。不過在整個研究纖維瘤症候群的過程對於分子生物遺傳學的貢獻相當大，相信有朝一日這樣的目標一定能達到。
關鍵字
無資料並列摘要
We present a case of Von-Recklinghausen disease with malignant transformation of a plexiform neurofibroma over her left leg. The proposita is a 35-year-old female with typical clinical features of neurofibromatosis type 1 (NF1) including cafe-au-lait spots, Lisch nodule and multiple fibromas. The major problem is a rapid growing mass within her left calf and ankle with resultant limb deformation, walking difficulties and debilitating pain. Besides that, there exists the great concern of malignant change of the lesion, therefore we elect to perform below-knee amputation for her. The pathologic examination confirmed our suspicion and the patient made an uneventful recovery and fares well during the follow-up period eversince.
延伸閱讀
- Liang, W. Y., Chen, W. Y. K., Tasy, S. H., & Chiang, H. (2000). 促纖維化小圓細胞腫瘤－三病例報告和文章回顧. The Kaohsiung Journal of Medical Sciences, 16(5), 261-265. https://doi.org/10.6452/KJMS.200005.0261
- 黃峻德、葉麗青、林哲毅（2021）。口底單發性纖維瘤－病例報告及文獻回顧。臺灣口腔顎面外科學會雜誌，32(4)，264-273。https://www.airitilibrary.com/Article/Detail?DocID=a0000494-202112-202111190007-202111190007-264-273
- Huang, P. M., Chang, Y. L., & Lee, Y. C. (2002). 多發家族性纖維瘤病：一病例報告及文獻回顧. 胸腔醫學, 17(1), 78-83. https://www.airitilibrary.com/Article/Detail?DocID=10239855-200203-17-1-78-83-a
- Lee, M. C., Kuo, T. T., Lin, J. Y., & Chan, H. L. (2002). 巨大細胞膠原纖維瘤－硬化性纖維瘤一罕見變異型報告－. 中華皮膚科醫學雜誌, 20(2), 115-118. https://www.airitilibrary.com/Article/Detail?DocID=10278117-200206-20-2-115-118-a
- Chen, H. C., Chen, C. H., Wu, C. Y., & Fang, H. Y. (2007). 巨大單獨之前縱膈腔惡性纖維瘤－病例報告. 胸腔醫學, 22(1), 60-65. https://doi.org/10.29806/TM.200702.0009