全球精选文摘 - 融合基因阴性的腺泡型横纹肌肉瘤在临床表现和分子学上都难以与胚胎型横纹肌肉瘤相鉴别

高级搜索

免费注册

首页

期刊文献

全球精选文摘

中国作者重要发表

爱思唯尔期刊精选全文

柳叶刀中文版精选全文

2009年诺贝尔奖得主文章

成功投稿经验系列访谈

2010年度诺贝尔奖得主

医药资讯

医学资讯

药品动态

诊疗指南

病例分析

数据库

会议精粹

柳叶刀流感峰会

2009世界高血压大会

辉瑞中国医学研究高峰论坛

上海东方呼吸病国际论坛

GAP-CCBC系列会议

精品书籍

爱思唯尔参考书

新书订购活动

疾病资源

专家博客

当前位置 > > > >

融合基因阴性的腺泡型横纹肌肉瘤在临床表现和分子学上都难以与胚胎型横纹肌肉瘤相鉴别

Fusion Gene–Negative Alveolar Rhabdomyosarcoma Is Clinically and Molecularly Indistinguishable From Embryonal Rhabdomyosarcoma

Williamson D, Missiaglia E, de Reyniès A 2010/9/13 17:35:34

【发表评论】【全球专家评论】

打印| 推荐给好友

J Clin Oncol, 2010,

专家评级：

★★★

循证评级：

View at Publisher

Purpose:
To determine whether the clinical and molecular biologic characteristics of the alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS) subtypes have relevance independent of the presence or absence of the PAX/FOXO1 fusion gene.

Patients and Methods:
The fusion gene status of 210 histopathologically reviewed, clinically annotated rhabdomyosarcoma samples was determined by reverse transcriptase polymerase chain reaction. Kaplan-Meier analysis was used to assess event-free survival and overall survival in fusion gene–negative ARMS (ARMSn; n=39), fusion gene–positive ARMS (ARMSp; n=94), and ERMS (n=77). A total of 101 RMS samples were also profiled for whole-genome expression, and 128 were profiled for genomic copy number imbalances. Profiling data were analyzed by supervised and unsupervised methods to compare features related to histopathology and fusion gene status. Results were also projected by meta-analysis techniques across three separate publically available data sets.

Results:
Overall and event-free survival, frequency of metastases, and distribution of site at initial presentation were not significantly different between ARMSn and ERMS. Consistent with this, analysis of gene expression signatures could not reproducibly distinguish ARMSn from ERMS whereas fusion gene–positive cases were distinct. ARMSn and ERMS frequently show whole-chromosome copy number changes, notably gain of chromosome 8 with associated high levels of expression of genes from this chromosome.

Conclusion:
The clinical behavior and molecular characteristics of alveolar cases without a fusion gene are indistinguishable from embryonal cases and significantly different from fusion-positive alveolar cases. This implies that fusion gene status irrespective of histology is a critical factor in risk stratification of RMS

请登录后发表评论，点击此处登录。

全部学科

疾病资源中心

高血压	慢性阻塞性肺病
脂肪性肝病	糖尿病
卒中	肺癌
冠心病	子宫内膜异位症
结直肠癌	乳腺癌
心力衰竭	心律失常

病例分析 [栏目介绍]

甲状腺功能亢进合并黄疸

王燕燕王曙

上海交通大学附属瑞金医院内分泌科

患者，女，69岁。2009年1月无明显诱因下出现乏力，当时程度较轻，未予以重视。2009年3月患者乏力症状加重，尿色逐渐加深，大便习惯改变，颜色变淡。4月18日入我院感染科治疗，诉轻度头晕、心慌，体重减轻10kg。无肝区疼痛，无发热，无腹痛、腹泻、腹胀、里急后重，无恶性、呕吐等。入院半月前于外院就诊，查肝功能：ALT 601IU/L，AST 785IU/L，TBIL 97.7umol/L，白蛋白 41g/L，甲状腺功能：游离T3 30.6pmol/L，游离T4 51.9pmol/L，心电图示快速房颤。

更多>>>

医学数据库