Orbital Rhabdomyosarcoma: A Case Report

眼窩橫紋肌肉瘤－病例報告

洪毓謙(Yu-Chien Hung) ； 沈應誠(Ying-Cheng Shen) ； 王俊元(Chun-Yuan Wang) ； 楊啟順(Chii-Shuenn Yang) ； 魏利真(Li-Chen Wei)

《中華民國眼科醫學會雜誌》 53卷1期 (2014/04) Pp. 79-85

https://doi.org/10.30048/ACTASOS.201404_53(1).0013

摘要

目的：報告一個眼窩橫紋肌肉瘤的罕見病例，並回顧相關文獻。方法：病例報告。結果：一名7歲小女孩出現左眼突出、眼皮水腫和眼球轉動受限的症狀有一個月之久。眼窩電腦斷層顯示左眼眼窩鼻側下方有一個顯影劑增強顯影的腫塊。手術經由下眼瞼行病灶處的病理切片，病理組織免疫組織化學染色myogenin和desmin呈陽性反應，雖然組織同時具有胚胎型和肺泡型橫紋肌肉瘤的病理特徵，綜合組織和染色特徵診斷為肺泡型橫紋肌肉瘤。病人接受肺泡型橫紋肌肉瘤的化學療法和放射線療法。術後4個月，病人雙眼視力1.0，無眼球轉動受限情形。結論：早期眼窩橫紋肌肉瘤不論胚胎型或肺泡型都有較良好的預後。然而為了降低化療和放療的晚期副作用，我們需要更精確的診斷來選擇更適當的治療策略。當組織病理檢查無法給予確切診斷時，分子基因檢測也許可以用來幫助診斷。眼窩腫瘤快速變大或對於治療沒有預期效果都應該做病理切片檢查。兒童的眼窩腫瘤，先考慮橫紋肌肉瘤。

並列摘要

Purpose: To report a rare case of orbital rhabdomyosarcoma (RMS) and review related literature. Methods: A case report. Results: A 7-year-old girl presented with proptosis, eyelid swelling, and restricted eye movement in the left eye, which had persisted for 1 month. Orbital computed tomography (CT) revealed an enhancing mass lesion in the left orbit inferonasal to the eyeball. An incisional biopsy of the orbital mass was done using a transcutaneous infraorbital approach. Immunohistochemical analysis revealed that the tumor cells were positive for myogenin and desmin. The tumor was first considered to be alveolar RMS according to the overall number of histological features and the diffuse myogenin stain, although it displayed characteristics of both the embryonal and alveolar subtypes. The patient was treated with chemotherapy and radiotherapy. Four months after chemotherapy and one month after irradiation of the left orbit, the visual acuity was 1.0 without restriction of eye movement. Conclusion: In the early stage, both subtypes of orbital RMS (embryonal and alveolar) have a relatively favorable outcome. However, in order to reduce the late adverse effects of chemotherapy and radiotherapy, an accurate diagnosis is a prerequisite for a reasonably adequate treatment strategy. Molecular genetic techniques may be helpful in reaching a definite diagnosis when the histopathological examination is inconclusive. An incisional biopsy is suggested when an orbital mass enlarges rapidly or fails to respond to treatment. Orbital RMS should be considered first in orbital tumors in children.

並列關鍵字

orbital ； rhabdomyosarcoma ； proptosis ； diplopia