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一名血小板衍生生长因子受体β(PDGFRB)相关慢性白血病患者的新型t(5;19)易位:对治疗策略的影响

Novel t(5;19) Translocation in a Patient with PDGFRB Associated Chronic Leukemia: Implications for Treatment Strategy.

作者信息

Provenzano Joel D, Kuebler J Phillip

机构信息

Riverside Methodist Hospital, Columbus, OH, USA ; Pulmonary Critical Care Medicine, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.

出版信息

Case Rep Hematol. 2013;2013:709164. doi: 10.1155/2013/709164. Epub 2013 Jul 10.

DOI:10.1155/2013/709164
PMID:23936692
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3722963/
Abstract

Myeloproliferative disorders are variable disorders, based on the genetic abnormality present and the cell line progenitors that are affected. In this case, we discuss a novel gene translocation in the subset of PDGFRB mutations, first seen with prominent hyperbasophilia. This case demonstrates the possibility for lower therapeutic doses of imatinib mesylate than previously reported, in order to control leukocyte counts and reverse the genetic mutation.

摘要

骨髓增殖性疾病是基于存在的基因异常和受影响的细胞系祖细胞而表现各异的疾病。在本病例中,我们讨论了血小板衍生生长因子受体β(PDGFRB)突变亚组中的一种新型基因易位,首次发现时伴有显著的嗜碱性粒细胞增多。该病例表明,与先前报道相比,使用更低治疗剂量的甲磺酸伊马替尼来控制白细胞计数并逆转基因突变是有可能的。

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本文引用的文献

1
Imatinib and tyrosine kinase inhibition, in the management of BCR-ABL negative myeloproliferative disorders.伊马替尼与酪氨酸激酶抑制在BCR-ABL阴性骨髓增殖性疾病治疗中的应用
Biologics. 2007 Jun;1(2):129-38.
2
Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2).在一例伴有t(5;17)(q33 - 34;q11.2)的嗜酸性粒细胞增多相关非典型骨髓增殖性肿瘤中鉴定出MYO18A - PDGFRB融合基因。
Genes Chromosomes Cancer. 2009 Feb;48(2):179-83. doi: 10.1002/gcc.20629.
3
Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders.血小板衍生生长因子受体β(PDGFRB)融合基因阳性且BCR-ABL阴性的慢性骨髓增殖性疾病患者对伊马替尼的持久反应。
Blood. 2007 Jan 1;109(1):61-4. doi: 10.1182/blood-2006-05-024828. Epub 2006 Sep 7.
4
FIP1L1-PDGFRA in eosinophilic disorders: prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature.嗜酸性疾病中的FIP1L1-PDGFRA:常规临床实践中的患病率、伊马替尼治疗的长期经验及文献综述
Leuk Res. 2006 Aug;30(8):965-70. doi: 10.1016/j.leukres.2005.11.011. Epub 2006 Jan 6.
5
Prevalence, breakpoint distribution, and clinical correlates of t(5;12).t(5;12)的患病率、断点分布及临床相关性。
Cancer Genet Cytogenet. 2004 Sep;153(2):170-2. doi: 10.1016/j.cancergencyto.2004.01.013.
6
Imatinib targets other than bcr/abl and their clinical relevance in myeloid disorders.伊马替尼除bcr/abl之外的靶点及其在髓系疾病中的临床相关性。
Blood. 2004 Oct 1;104(7):1931-9. doi: 10.1182/blood-2004-01-0246. Epub 2004 May 27.
7
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8
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