Department of Pathology, Seoul National University Boramae Hospital, Seoul National University College of Medicine, 425 Shindaebang-dong, Dongjak-gu, Seoul 156-707, Korea.
Pathol Oncol Res. 2011 Jun;17(2):415-20. doi: 10.1007/s12253-010-9322-2. Epub 2010 Oct 31.
Liposarcoma develops extremely rarely in the oesophagus. Microscopically, it exhibits subtle atypia of H&E-stained features. Accordingly, immunohistochemical features and chromosomal alterations are used for its confirmatory diagnosis. However, cytogenetic analysis has not been performed for oesophageal liposarcoma. We studied chromosomal alterations using array comparative genomic hybridization (CGH), as well as endoscopic, radiological, H&E-stained and immunohistochemical features in the oesophageal well-differentiated liposarcoma of a 67-year-old man. Array CGH analysis revealed the presence of high-level amplifications at chromosomal locations 1p12-1q21.2, 12q13.2-12q15 and 12q21.33-12q23.1. At least 29 genes were highly amplified (log(2) ratio >2), among which CDK4 and MDM2 were the most highly amplified (log(2) ratio >4) and were accepted as major target genes. Moreover, the amplification of AMDHD1, HAL and LTA4H (log(2) ratio = 3.153) was a novel finding. This case suggests the presence of a characteristic profile of gene amplification in well-differentiated liposarcoma of the oesophagus. The amplified genes may be of pathogenic importance for primary oesophageal well-differentiated liposarcoma.
食管脂肪肉瘤极为罕见。显微镜下，其 H&E 染色特征显示出微妙的异型性。因此，免疫组织化学特征和染色体改变用于其明确诊断。然而，尚未对食管脂肪肉瘤进行细胞遗传学分析。我们使用阵列比较基因组杂交 (CGH) 研究了染色体改变，并研究了一名 67 岁男性食管高分化脂肪肉瘤的内镜、影像学、H&E 染色和免疫组织化学特征。阵列 CGH 分析显示在染色体位置 1p12-1q21.2、12q13.2-12q15 和 12q21.33-12q23.1 存在高水平扩增。至少有 29 个基因高度扩增（对数比 >2），其中 CDK4 和 MDM2 扩增程度最高（对数比 >4），被认为是主要的靶基因。此外，AMDHD1、HAL 和 LTA4H 的扩增（对数比=3.153）是一个新的发现。该病例提示食管高分化脂肪肉瘤存在特征性的基因扩增谱。扩增的基因可能对原发性食管高分化脂肪肉瘤具有致病意义。
