染色体易位
生物
断点
多发性骨髓瘤
癌基因
染色体
遗传学
癌症研究
基因
计算生物学
分子生物学
免疫学
细胞周期
作者
Brian A. Walker,Christopher P. Wardell,Fiona M. Ross,Gareth J. Morgan
摘要
IGH translocations in myeloma are a primary event and determine the prognostic outcome of a patient. These events are characterized by FISH and classical cytogenetics, but in a small proportion of samples a translocation involving the IGH locus can be detected but the partner chromosome cannot be identified. These cases are usually genetically complex and are the result of cryptic events that cannot be discerned at the resolution of FISH. Here we analyzed a sample with an unidentified translocation partner using a targeted capture and massively parallel sequencing. We identified the partner chromosome as a t(7;14) with the breakpoint upstream of EGFR . This sample over‐expresses the target oncogene, EGFR . This case represents a rare and novel translocation in myeloma, from which a targeted personalized treatment, in the form of EGFR inhibitors, which are commonly used in other cancer types, could be used. © 2013 Wiley Periodicals, Inc.
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