Sequential array comparative genomic hybridization analysis identifies copy number changes during blastic transformation of chronic myeloid leukemia

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• 作者：Seung-Tae Lee^a ; ^c ; Yongick Ji^c ; Hee-Jin Kim^a ; Chang-Seok Ki^a ; Chul Won Jung^b ; Jong-Won Kim^a ; ^c ; ^{culture.jkim@gmail.com} ; Sun-Hee Kim^a
• 关键词：Array CGH ; Chronic myeloid leukemia ; Blastic phase ; PAX5 ; MLLT3
• 刊名：Leukemia Research
• 出版年：2012
• 期刊代码：186_01452126
• 类别：med
• 出版时间：April, 2012
• 卷：36
• 期：4
• 页码：418-421
• 文件大小：349 K

摘要

The present study was performed to provide direct evidence on copy number changes during progression from chronic phase (CP) to blastic phase (BP) in chronic myeloid leukemia (CML) through a longitudinal follow-up study. Matched CP and BP samples in three patients were analyzed using high-resolution array comparative genomic hybridization (aCGH) chips. During blastic transformation, loss of large genomic segments including 6q14.1-q22.31, chromosome 7 and 9p13.2-p21.3 were noted. Furthermore, small-sized copy number changes involving cancer-associated genes were observed. In addition, we identified a novel fusion gene consisted of PAX5 and MLLT3 (AF9). It is likely that blastic transformation of CML is a multi-step process associated accumulation of several genomic events which may largely overlap with those found in acute leukemias.