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睾丸旁黏液样/圆细胞脂肪肉瘤,具有 3 型 DDIT3-FUS 融合基因:非常罕见病例报告。

Paratesticular myxoid/round cell liposarcoma harboring type 3 DDIT3-FUS fusion gene: report of a very rare case.

机构信息

Department of Surgical Pathology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.

出版信息

Pathol Res Pract. 2013 Feb 15;209(2):124-7. doi: 10.1016/j.prp.2012.10.015. Epub 2012 Dec 28.

Abstract

Myxoid/round cell liposarcomas are rare mesenchymal neoplasms. They preferentially occur in the lower extremity, and most of them have type 1 or type 2 DDIT3-FUS fusion gene. We report here a very rare case of myxoid/round cell liposarcoma of the paratesticular region with type 3 DDIT3-FUS fusion gene. A 46-year-old Japanese man noticed a gradually enlarged intrascrotal mass without pain. Surgical resection of 3.4 cm × 2.1 cm oval mass was carried out, and it was located in the right paratesticular region apart from the spermatic cord and epididymis. Histological examination of the tumor revealed ovoid cell proliferation with anastomosing vascular network and scattered lipoblasts. Genetic analysis elucidated that the tumor had a chromosomal translocation, type 3 DDIT3-FUS chimeric gene. The tumor was definitely diagnosed as myxoid/round cell liposarcoma of the paratesticular region.

摘要

黏液样/圆细胞脂肪肉瘤是一种罕见的间叶性肿瘤。它们优先发生在下肢,大多数具有 1 型或 2 型 DDIT3-FUS 融合基因。我们在此报告一例非常罕见的发生在附睪区的黏液样/圆细胞脂肪肉瘤,具有 3 型 DDIT3-FUS 融合基因。一位 46 岁的日本男性注意到右侧附睪区逐渐增大的无疼痛性睪丸内肿块。行 3.4 cm×2.1 cm 卵圆形肿块切除术,该肿块位于附睪区,远离睪丸索和附睪。肿瘤的组织学检查显示卵圆形细胞呈网状血管吻合状增生,散在分布有脂肪母细胞。遗传学分析表明肿瘤存在染色体易位,即 3 型 DDIT3-FUS 嵌合基因。该肿瘤明确诊断为附睪区黏液样/圆细胞脂肪肉瘤。

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