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具有独特染色体易位的未分化小细胞肝母细胞瘤:病例报告

Undifferentiated small cell hepatoblastoma with a unique chromosomal translocation: a case report.

作者信息

Hansen K, Bagtas J, Mark H F, Homans A, Singer D B

机构信息

Department of Pathology, Rhode Island Hospital, Providence 02903.

出版信息

Pediatr Pathol. 1992 May-Jun;12(3):457-62. doi: 10.3109/15513819209023325.

DOI:10.3109/15513819209023325
PMID:1384017
Abstract

Cytogenetic studies of pediatric tumors have revealed a number of reproducible karyotypic abnormalities, including del(p13) found in aniridia-Wilms' tumor association, t(8;14) in Burkitt's lymphoma, and t(11;22) in Ewing's sarcoma. To date, no consistent cytogenetic abnormality has been reported in association with hepatoblastoma. We report the case of a 7-month-old male infant with the undifferentiated small cell variant of hepatoblastoma. Immunohistochemistry revealed reactivity with antibodies to cytokeratin and vimentin throughout the tumor. Alpha-fetoprotein, neuron-specific enolase, and S100 stains were negative. Chromosomal analysis of metaphase cells from a culture of tumor tissue revealed a translocation of most of the long arm of chromosome 22 to the distal long arm of chromosome 10.

摘要

儿童肿瘤的细胞遗传学研究已揭示出许多可重现的核型异常,包括无虹膜-肾母细胞瘤综合征中发现的del(p13)、伯基特淋巴瘤中的t(8;14)以及尤因肉瘤中的t(11;22)。迄今为止,尚未有与肝母细胞瘤相关的一致细胞遗传学异常的报道。我们报告了1例7个月大男性婴儿,患有未分化小细胞型肝母细胞瘤。免疫组织化学显示,整个肿瘤对细胞角蛋白和波形蛋白抗体呈阳性反应。甲胎蛋白、神经元特异性烯醇化酶和S100染色均为阴性。对肿瘤组织培养的中期细胞进行染色体分析,发现22号染色体长臂的大部分易位至10号染色体长臂远端。

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