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三向费城易位t(9;10;22)(q34;p11.2;q11.2)作为甲磺酸伊马替尼耐药慢性髓性白血病患者的继发异常。

Three-way Philadelphia translocation t(9;10;22)(q34;p11.2;q11.2) as a secondary abnormality in an imatinib mesylate-resistant chronic myeloid leukemia patient.

作者信息

Al-Achkar Walid, Wafa Abdulsamad, Ikhtiar Adnan, Liehr Thomas

机构信息

Department of Molecular Biology and Biotechnology, Human Genetics Division, Flow-cytometry Lab, Atomic Energy Commission, Damascus, Syria ;

出版信息

Oncol Lett. 2013 May;5(5):1656-1658. doi: 10.3892/ol.2013.1228. Epub 2013 Mar 5.

Abstract

Chronic myelogenous leukemia (CML) is characterized by the Philadelphia (Ph) chromosome created by the reciprocal translocation t(9:22)(q34;q11), resulting in the chimeric gene breakpoint cluster region (BCR)-Abelson (ABL). Variant Ph chromosome translocations involving chromosomes other than 9 and 22 occur in 5-10% of CML cases. In the present study, a novel case of a Ph chromosome-positive CML in the chronic phase (CP) is reported, with a three-way Ph translocation involving three chromosomal regions, 9q34, 10p11.2 and 22q11.2, in addition to the loss of the Y chromosome, where the latter was a secondary abnormality. Since the majority of CML cases are currently treated with imatinib, variant rearrangements generally have no specific prognostic significance, although the mechanisms involved in resistance to therapy have yet to be investigated. The underlying mechanisms and prognostic implications of these cytogenetic abnormalities are discussed in the present study.

摘要

慢性粒细胞白血病(CML)的特征是由相互易位t(9:22)(q34;q11)产生的费城(Ph)染色体,导致嵌合基因断裂点簇区域(BCR)-阿贝尔森(ABL)。涉及9号和22号以外染色体的变异Ph染色体易位发生在5%-10%的CML病例中。在本研究中,报告了1例慢性期(CP)Ph染色体阳性CML新病例,除Y染色体缺失(后者为继发性异常)外,还存在涉及三个染色体区域9q34、10p11.2和22q11.2的三向Ph易位。由于目前大多数CML病例采用伊马替尼治疗,尽管对治疗耐药的机制尚待研究,但变异重排一般无特定预后意义。本研究讨论了这些细胞遗传学异常的潜在机制和预后意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb88/3678570/14943fb3dde5/OL-05-05-1656-g00.jpg

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