Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis

Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis
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DOI:
10.3324/haematol.2009.016345
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发表时间:
2010-05-01
期刊:
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子:
--
通讯作者:
Reiter, Andreas
Reiter, Andreas
中科院分区:
其他
文献类型:
--
作者:
Erben, Philipp;Gosenca, Darko;Reiter, Andreas

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背景快速鉴定涉及嗜酸性粒细胞增多相关性骨髓增生性肿瘤中 PDGFRA 或 PDGFRB 的多种融合基因对于充分的临床治疗至关重要,但由于伴侣基因和断点的数量和异质性而变得复杂。设计和方法我们建立了通用的定量逆转录酶聚合酶链式反应来检测 PDGFRA 或 PDGFRB 3'-区域的过度表达,作为潜在融合的可能指标。结果在诊断时,所有具有已知融合基因的患者均涉及与 191 名融合基因阴性嗜酸性粒细胞增多症患者或健康个体相比,PDGFRA(n=5;51 名患者)或 PDGFRB(n=5;7 名患者)显示正常化表达水平显着升高(PDGFRA/ABL:0.73 与 0.0066 与 0.0064,P
BackgroundRapid identification of diverse fusion genes with involvement of PDGFRA or PDGFRB in eosinophilia-associated myeloproliferative neoplasms is essential for adequate clinical management but is complicated by the multitude and heterogeneity of partner genes and breakpoints.Design and MethodsWe established a generic quantitative reverse transcriptase polymerase chain reaction to detect overexpression of the 3'-regions of PDGFRA or PDGFRB as a possible indicator of an underlying fusion.ResultsAt diagnosis, all patients with known fusion genes involving PDGFRA (n=5; 51 patients) or PDGFRB (n=5; 7 patients) showed significantly increased normalized expression levels compared to 191 patients with fusion gene-negative eosinophilia or healthy individuals (PDGFRA/ABL: 0.73 versus 0.0066 versus 0.0064, P