Desmoplastic small cell tumor of soft tissue:: Molecular variant of EWS-WT1 chimeric fusion
Desmoplastic small cell tumor of soft tissue:: Molecular variant of EWS-WT1 chimeric fusion
复制标题
DOI：
10.1111/j.1440-1827.2006.02003.x
复制
发表时间：
2006-09-01
影响因子：
2.2
通讯作者：
Nara, Taemi
中科院分区：
文献类型：
--
作者：
Hamazaki, Minoru;Okita, Hajime;Nara, Taemi
一名7岁女孩因左眶周区肿瘤性肿块住院。肿瘤被局部切除。4个月后，腮腺区的软组织肿瘤复发，3年零3个月后，在颈部左侧发现第二次复发。患者未接受化疗或局部放疗。组织学和免疫组化检查的复发肿块显示小细胞增生的形态学特征与促结缔组织增生的基质，是类似的初始肿瘤。细胞成分显示结蛋白，细胞角蛋白，波形蛋白和上皮膜抗原的部分免疫反应性，但肌细胞生成素，CD 99，和神经元特异性烯醇化酶的细胞是阴性的。这些发现提示诊断为促结缔组织增生性小细胞肿瘤，尽管它位于腹部外。逆转录聚合酶链反应证实了组织学诊断，证实了EWS-WT 1嵌合融合基因。随后通过克隆和测序鉴定了EWS外显子9和WT 1外显子8的框内融合。嵌合融合基因可能与促结缔组织增生性小细胞肿瘤的组织特异性表型有关，但需要进一步研究。
A 7-year-old girl was hospitalized because of a tumorous mass in her left periorbital region. The tumor was removed by local excision. The soft-part tumor recurred in the parotid gland region 4 months later, and a second recurrence was noted on the left side of the neck 3 years and 3 months thereafter. The patient had not received chemotherapy or local irradiation. Histological and immunohistochemical examinations of the recurrent masses revealed morphological characteristics of small cell proliferation with desmoplastic stroma that were similar to those of the initial tumor. The cellular components showed immunoreactivity for desmin, cytokeratin, vimentin, and epithelial membrane antigen in part, but the cells were negative for myogenin, CD99, and neuron-specific enolase. These findings suggested a diagnosis of desmoplastic small cell tumor, despite its extra-abdominal location. The histological diagnosis was confirmed by reverse transcriptase polymerase chain reaction, which demonstrated an EWS-WT1 chimeric fusion gene. An in-frame fusion of EWS exon 9 and WT1 exon 8 was subsequently identified by cloning and sequencing. The chimeric fusion gene might be related to the tissue-specific phenotype of desmoplastic small cell tumors, although further investigation of this speculation is necessary.