Intramuscular Low-Grade Fibromyxoid Sarcoma: A Case Report

低度惡性纖維黏液樣肉瘤(low-grade fibromyxoid sarcoma)是罕見的深層軟組織腫瘤，它通常發生在下肢，尤其好發於大腿。此種腫瘤好發於年輕男性，其顯微鏡下的表現為在纖維狀和黏液樣的區域有分化良好的纖維母細胞樣之梭狀細胞以線形或漩渦狀排列；雖然低度惡性纖維黏液樣肉瘤有偽良性的組織學表現，但是常局部復發和甚至曾經有文獻報告晚期轉移的病例。要準確地診斷低度惡性纖維黏液樣肉瘤仍然是困難的，由於它分化良好的組織學表現，因而與其它良性或低度惡性纖維黏液樣腫瘤產生混淆；雖然免疫組織化學染色在診斷黏液樣腫瘤上常可以提供一個概述性鑑別診斷，但是有時候在低度惡性纖維黏液樣肉瘤的診斷上仍然有所不足。最近的細胞遺傳和分子分析在低度惡性纖維黏液樣肉瘤的診斷上有很大的改進，細胞遺傳和分子分析顯示大部分的低度惡性纖維黏液樣肉瘤有獨特的第7對染色體與第16對染色體發生轉位〔t(7,16)(q33;p11)translocation〕而產生一個異常的融合基因(FUSCREB3L2)。我們報告的這一位29歲女性在她左下肢的比目魚肌內長出一個低度惡性纖維黏液樣肉瘤，術前的磁共振影像懷疑可能是左比目魚肌內的組織細胞瘤(histiocytoma)。結論，由於低度惡性纖維黏液樣肉瘤的良性外觀特徵，在外科病理學的常規工作上要正確診斷一個低度惡性纖維黏液樣肉瘤可能是一件挑戰的任務，免疫組織化學染色和超顯微結構發現低度惡性纖維黏液樣肉瘤的腫瘤細胞與纖維性母細胞的性質一致，另外可以使用細胞遺傳和分子生物技術1分析當作診斷低度惡性纖維黏液樣肉瘤的輔助診斷工具。

關鍵字

纖維黏液樣； FUS-CREB3L2 ；低度惡性纖維黏液樣肉瘤

並列摘要

Low-grade fibromyxoid sarcoma (LGFMS) is a rare neoplasm that commonly arises in the deep soft tissues of the lower extremities, particularly in the thigh. LGFMS occurs preferentially in young male adults. The microscopic appearance of LGFMS exhibits bland fibroblastic spindle cells with a whorled or linear arrangement in fibrous and myxoid areas. Although LGFMS has a deceptively benign histologic appearance, local recurrence and late metastases have frequently been reported. Diagnosis of LGFMS is still difficult because of its characteristic bland-looking histologic features that can be confused with other benign or low-grade fibromyxoid lesions. Although immunohistochemical staining can offer an overview of the differential diagnosis of myxoid tumors of soft tissue, it is sometimes limited for diagnosis of LGFMS. However, recent cytogenetic and molecular analyses have provided significant improvements in the diagnosis of LGFMS. Such analyses have demonstrated that most cases of LGFMS have a characteristic t(7,16) (q33;p11) translocation, resulting in the FUS-CREB3L2 fusion gene. We report a 29-year-old female who presented with a LGFMS located in the soleus muscle of her left lower leg. Preoperative imaging suggested the possibility of an intramuscular histiocytoma of the left soleus muscle. In conclusion, diagnosis of LGFMS can be challenging in routine practice in surgical pathology because of its bland-looking features. The immunohistochemical and ultrastructural findings were consistent with the fibroblastic properties of LGFMS. Cytogenetic and/or molecular genetic analyses can be used as ancillary diagnostic tools for LGFMS.

並列關鍵字

Fibromyxoid ； FUS-CREB3L2 ； low-grade fibromyxoid sarcoma

國際替代計量

Intramuscular Low-Grade Fibromyxoid Sarcoma: A Case Report

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