Suzuki Kayo, Matsui Yoshito, Hashimoto Nobuyuki, Naka Norifumi, Araki Nobuhito, Kimura Tomoatsu, Yoshikawa Hideki, Ueda Takafumi
Department of Orthopaedic Surgery, University of Toyama, Toyama 930-0194.
Oncol Lett. 2012 Feb;3(2):293-296. doi: 10.3892/ol.2011.480. Epub 2011 Nov 15.
Liposarcomas are separated into clinicopathological entities by a characteristic morphological spectrum and distinctive genetic changes. Myxoid liposarcoma (MLS) represents one such entity with specific chromosomal translocations leading to the generation of fusion genes, the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) or the Ewing sarcoma (EWS)-CHOP. In the present study, four cases of liposarcoma with detection of TLS-CHOP or EWS-CHOP, whose postoperative diagnosis was other than MLS (one well-differentiated liposarcoma, two de-differentiated liposarcomas and one unclassified) were examined for medical records, imaging data and histopathology. Clinical records demonstrated that three of the four cases were considerably difficult to diagnose definitively, and histopathological re-examination pointed out areas of myxomatous change as a minor component (<10%). Their dominant components (>90%) resembled pleomorphic sarcoma, pleomorphic malignant fibrous histiocytoma and monophasic synovial sarcoma. The current cases may represent an extreme variant of the morphological spectrum within MLS. In cases of difficulty in making definitive diagnosis of soft tissue sarcoma by standard histopathological examination and identification of myxoid stroma even as a minor component, analyzing TLS-CHOP and EWS-CHOP fusion genes may aid the diagnosis of unusual MLS.
脂肪肉瘤根据其特征性的形态学谱和独特的基因变化被分为不同的临床病理实体。黏液样脂肪肉瘤(MLS)就是这样一种实体,它具有特定的染色体易位,可导致融合基因的产生,即人易位性脂肪肉瘤(TLS)-CCAAT/增强子结合蛋白(C/EBP)同源蛋白(CHOP)或尤因肉瘤(EWS)-CHOP。在本研究中,对4例检测到TLS-CHOP或EWS-CHOP的脂肪肉瘤病例进行了检查,这些病例术后诊断并非MLS(1例高分化脂肪肉瘤、2例去分化脂肪肉瘤和1例未分类脂肪肉瘤),检查内容包括病历、影像数据和组织病理学。临床记录显示,这4例病例中有3例很难明确诊断,组织病理学复查指出黏液样变区域为次要成分(<10%)。其主要成分(>90%)类似于多形性肉瘤、多形性恶性纤维组织细胞瘤和单相滑膜肉瘤。目前这些病例可能代表了MLS形态学谱中的一种极端变异。对于通过标准组织病理学检查难以明确诊断软组织肉瘤且即使黏液样间质为次要成分也难以识别的病例,分析TLS-CHOP和EWS-CHOP融合基因可能有助于诊断不典型的MLS。