Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders
Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders
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DOI：
10.1016/j.cancergencyto.2007.10.021
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发表时间：
2008-02-01
影响因子：
--
通讯作者：
Forrest, Donna L.
中科院分区：
文献类型：
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作者：
Gallagher, Genevieve;Horsman, Douglas E.;Forrest, Donna L.
涉及血小板衍生生长因子受体β基因（PDGFRB）的染色体易位在非典型骨髓增殖性疾病（MPDs）患者中有报道。编码酪氨酸激酶受体的PDGFRB基因与不同的伴侣基因融合导致其组成性激活。我们报告了两例非典型MPD患者分别携带t(4;5)（q21;q33）和t(2;5)（p21;q33）。荧光原位杂交表明PDGFRB参与了这两种易位。利用细菌人工染色体探针进一步表征4q21断点，发现PRKG2可能是PDGFRB的基因伴侣。2p21断点的鉴定鉴定了PDGFRB的一个新的基因伙伴，SPTBN1基因。在引入甲磺酸伊马替尼治疗后，两名患者均获得了完全的分子缓解。(c) 2008爱思唯尔公司版权所有。
Chromosomal translocations involving the platelet-derived growth factor receptor beta gene (PDGFRB) have been reported in a subset of patients with atypical myeloproliferative disorders (MPDs). The fusion of the PDGFRB gene, which encodes a tyrosine kinase receptor, with different partner genes results in its constitutive activation. We present the cases of two patients with atypical MPD carrying t(4;5)(q21;q33) and t(2;5)(p21;q33), respectively. Fluorescence in situ hybridization demonstrated that PDGFRB was involved in both translocations. Further characterization of the 4q21 breakpoint using a bacterial artificial chromosome probe revealed PRKG2 as the likely gene partner to PDGFRB. Characterization of the 2p21 breakpoint identified a novel gene partner to PDGFRB, the SPTBN1 gene. Both patients achieved a complete molecular remission after introduction of imatinib mesylate therapy. (c) 2008 Elsevier Inc. All rights reserved.