Dewaele Barbara, Libbrecht Louis, Levy Gabriel, Brichard Benedicte, Vanspauwen Vanessa, Sciot Raf, Debiec-Rychter Maria
Department of Human Genetics, KU Leuven and University Hospitals Leuven, Leuven, Belgium.
Department of Pathology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Genes Chromosomes Cancer. 2017 Sep;56(9):695-699. doi: 10.1002/gcc.22474. Epub 2017 Jul 1.
Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous epithelioid cells within a collagenous matrix. It has been recently characterized by recurrent pathogenic EWS-CREB3L1/2 or FUS-CREB3L2 fusions and common MUC4 protein expression by immunohistochemistry. Typically SEF occur in middle-aged adults and rarely have been reported within the abdominal cavity. Here we report an 18-year-old man with intraabdominal tumor and multiple disseminated liver metastases, presenting pure SEF histologic and immunophenotypic features. Fluorescence in situ hybridization analysis showed unbalanced rearrangement of Ewing sarcoma breakpoint region 1 (EWSR1) gene. Genomic profiling by array CGH, followed by RT-PCR and sequencing analysis, revealed a previously not reported EWSR1 translocation partner, cAMP-responsive element-binding protein 3-like 3 (CREB3L3). The novel EWSR1-CREB3L3 fusion further extends the range of fusion types involving EWSR1 that are characteristic for SEF.
硬化性上皮样纤维肉瘤（SEF）是一种罕见的恶性成纤维细胞肿瘤，形态上由胶原基质内条索状、巢状或片状的单一上皮样细胞组成。最近发现其具有复发性致病性EWS-CREB3L1/2或FUS-CREB3L2融合基因，且免疫组化显示常见MUC4蛋白表达。SEF通常发生于中年成年人，腹腔内罕见报道。在此，我们报告一名18岁男性，患有腹腔内肿瘤及多发肝转移，呈现出单纯SEF的组织学和免疫表型特征。荧光原位杂交分析显示尤因肉瘤断点区域1（EWSR1）基因发生不平衡重排。通过阵列比较基因组杂交进行基因组分析，随后进行逆转录聚合酶链反应（RT-PCR）和测序分析，发现了一个此前未报道的EWSR1易位伴侣，即环磷酸腺苷反应元件结合蛋白3样3（CREB3L3）。这种新型的EWSR1-CREB3L3融合进一步扩展了SEF特征性的涉及EWSR1的融合类型范围。
