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[伴有大量骨髓受累及2;13染色体易位的肺泡横纹肌肉瘤]

[Alveolar rhabdomyosarcoma with massive bone marrow involvement and 2;13 chromosome translocation].

作者信息

Naito H, de Higa E H, Kobayashi R, Shikano T, Ishikawa Y, Nojima T

机构信息

Department of Pediatrics, Hokkaido University School of Medicine.

出版信息

Rinsho Ketsueki. 1992 Feb;33(2):238-43.

PMID:1635176
Abstract

We report a 9-year-old girl who had massive bone marrow infiltration of tumor cells at the onset of alveolar rhabdomyosarcoma. She was admitted to a surgical hospital because of abdominal pain and tumor in the buttock. Computerized tomographic scans of the pelvis revealed an abnormal mass. She was referred to our department. Hematological examination showed pancytopenia. Blood chemistry revealed hypercalcemia and hyperuricemia. Bone marrow was occupied with 100% tumor cells. Chromosome analysis of tumor cells in bone marrow revealed a specific translocation, t(2;13) (q37;q14). This finding enabled the diagnosis of a disseminated alveolar rhabdomyosarcoma to be established. She was treated with vincristine, cyclophosphamide and epirubicin, achieved a complete remission, but died of relapse 3 months after diagnosis.

摘要

我们报告一名9岁女孩,她在肺泡横纹肌肉瘤发病时出现肿瘤细胞大量浸润骨髓。她因腹痛和臀部肿瘤入住一家外科医院。骨盆计算机断层扫描显示有异常肿块。她被转诊至我们科室。血液学检查显示全血细胞减少。血液生化检查显示高钙血症和高尿酸血症。骨髓被100%的肿瘤细胞占据。对骨髓中的肿瘤细胞进行染色体分析发现了一种特定的易位,t(2;13)(q37;q14)。这一发现使得播散性肺泡横纹肌肉瘤的诊断得以确立。她接受了长春新碱、环磷酰胺和表柔比星治疗,实现了完全缓解,但在诊断后3个月死于复发。

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1
[Alveolar rhabdomyosarcoma with massive bone marrow involvement and 2;13 chromosome translocation].[伴有大量骨髓受累及2;13染色体易位的肺泡横纹肌肉瘤]
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