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一系列儿童横纹肌肉瘤中的染色体畸变

Chromosomal aberrations in a consecutive series of childhood rhabdomyosarcoma.

作者信息

Kullendorff C M, Donner M, Mertens F, Mandahl N

机构信息

Department of Pediatric Surgery, University Hospital, Lund, Sweden.

出版信息

Med Pediatr Oncol. 1998 Mar;30(3):156-9. doi: 10.1002/(sici)1096-911x(199803)30:3<156::aid-mpo5>3.0.co;2-g.

Abstract

BACKGROUND AND PROCEDURE

During a 13-year period, 22 children were treated for rhabdomyosarcoma (RMS). In 18 of these patients chromosome analysis was attempted on material from tumor biopsies, fine needle aspiration biopsies and/or bone marrow samples.

RESULTS

Clonal chromosome aberrations were detected in 14 cases; 7 of 9 embryonal RMS, 6 of 8 alveolar RMS and in the single case of pleomorphic RMS cytogenetic failures were more frequent in fine needle aspiration biopsies than in tumor biopsies. The characteristic t(2;13) translocation was seen in 2 alveolar RMS but not in any of the other subtypes. In 3 of the embryonal RMS hyperdiploid or hypertetraploid karyotypes with few or no structural rearrangements were seen. In all 3 cases the clinical course was relatively benign, suggesting that certain karyotypic patterns in RMS may be of prognostic significance.

CONCLUSIONS

Our results add to the evidence that cytogenetic analysis should be an integral part of the diagnostic examinations of children with RMS.

摘要

背景与方法

在13年期间,22名儿童接受了横纹肌肉瘤(RMS)治疗。其中18例患者尝试对肿瘤活检、细针穿刺活检和/或骨髓样本进行染色体分析。

结果

14例检测到克隆性染色体畸变;9例胚胎型RMS中的7例、8例肺泡型RMS中的6例以及1例多形性RMS中,细针穿刺活检的细胞遗传学失败比肿瘤活检更常见。特征性的t(2;13)易位见于2例肺泡型RMS,但在其他亚型中均未发现。3例胚胎型RMS中可见超二倍体或超四倍体核型,结构重排很少或没有。所有3例的临床病程相对良性,提示RMS中某些核型模式可能具有预后意义。

结论

我们的结果进一步证明,细胞遗传学分析应成为RMS患儿诊断检查的一个组成部分。

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