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肉瘤分子检测:诊断与预后

Sarcoma molecular testing: diagnosis and prognosis.

作者信息

Lazar Alexander J F, Trent Jonathan C, Lev Dina

机构信息

Department of Pathology and Sarcoma Research Center, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030-4009, USA.

出版信息

Curr Oncol Rep. 2007 Jul;9(4):309-15. doi: 10.1007/s11912-007-0038-8.

DOI:10.1007/s11912-007-0038-8
PMID:17588356
Abstract

Methodologies employed in the rapidly developing field of soft tissue sarcoma molecular testing focus primarily on diagnosis using chromosomal translocations and the resulting fusion transcripts. Molecular prognostic testing holds promise in this complex group of rare mesenchymal malignancies, but results are preliminary and require further confirmation. Analysis of activating KIT mutations in gastrointestinal stromal tumors is currently being used in management of patient therapy.

摘要

软组织肉瘤分子检测这一快速发展领域中所采用的方法主要聚焦于利用染色体易位及由此产生的融合转录本进行诊断。分子预后检测在这类复杂的罕见间叶性恶性肿瘤中具有前景,但结果尚属初步,需要进一步证实。目前,胃肠道间质瘤中激活型KIT突变的分析已用于患者治疗的管理。

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Assessment of fusion gene status in sarcomas using a custom made fusion gene microarray.

本文引用的文献

1
Genetics of soft tissue tumors.软组织肿瘤的遗传学
Annu Rev Pathol. 2006;1:435-66. doi: 10.1146/annurev.pathol.1.110304.100052.
2
Fusion genes in angiomatoid fibrous histiocytoma.血管样纤维组织细胞瘤中的融合基因。
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Noninvasive detection of TMPRSS2:ERG fusion transcripts in the urine of men with prostate cancer.前列腺癌男性尿液中TMPRSS2:ERG融合转录本的无创检测
使用定制的融合基因微阵列评估肉瘤中的融合基因状态。
PLoS One. 2013 Aug 13;8(8):e70649. doi: 10.1371/journal.pone.0070649. eCollection 2013.
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Incidence of sarcoma histotypes and molecular subtypes in a prospective epidemiological study with central pathology review and molecular testing.一项前瞻性的流行病学研究,对中央病理审查和分子检测,肉瘤的组织类型和分子亚型的发生率。
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Gene translocations in musculoskeletal neoplasms.肌肉骨骼肿瘤中的基因易位
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EWS-CREB1: a recurrent variant fusion in clear cell sarcoma--association with gastrointestinal location and absence of melanocytic differentiation.EWS-CREB1:透明细胞肉瘤中一种复发性变异融合基因——与胃肠道定位及无黑素细胞分化相关
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Bioinformatics approach leads to the discovery of the TMPRSS2:ETS gene fusion in prostate cancer.生物信息学方法促成了前列腺癌中TMPRSS2:ETS基因融合的发现。
Lab Invest. 2006 Nov;86(11):1099-102. doi: 10.1038/labinvest.3700477. Epub 2006 Sep 18.
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Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.胃肠道间质瘤中伊马替尼耐药的分子关联
J Clin Oncol. 2006 Oct 10;24(29):4764-74. doi: 10.1200/JCO.2006.06.2265. Epub 2006 Sep 5.
7
TMPRSS2:ERG fusion-associated deletions provide insight into the heterogeneity of prostate cancer.TMPRSS2:ERG融合相关缺失为深入了解前列腺癌的异质性提供了线索。
Cancer Res. 2006 Sep 1;66(17):8337-41. doi: 10.1158/0008-5472.CAN-06-1482.
8
Molecular diagnosis of sarcomas: chromosomal translocations in sarcomas.肉瘤的分子诊断:肉瘤中的染色体易位
Arch Pathol Lab Med. 2006 Aug;130(8):1199-207. doi: 10.5858/2006-130-1199-MDOS.
9
Clear cell hidradenoma of the skin--a third tumor type with a t(11;19)-associated TORC1-MAML2 gene fusion: Genes Chromosomes Cancer. 2005;43:202-205.皮肤透明细胞汗腺瘤——一种与t(11;19)相关的TORC1-MAML2基因融合的第三种肿瘤类型:《基因、染色体与癌症》。2005年;43卷:202 - 205页
Adv Anat Pathol. 2006 Mar;13(2):80-2. doi: 10.1097/01.pap.0000213000.79866.bd.
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Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate.激酶抑制剂SU11248对甲磺酸伊马替尼耐药的胃肠道间质瘤突变体的疗效。
Clin Cancer Res. 2006 Apr 15;12(8):2622-7. doi: 10.1158/1078-0432.CCR-05-2275.