一名慢性髓性白血病患者中存在隐匿性der(9)t(9;22)缺失的e6a2 BCR/ABL1融合
e6a2 BCR/ABL1 fusion with cryptic der(9)t(9;22) deletions in a patient with chronic myeloid leukemia.
作者信息
Roti Giovanni, La Starza Roberta, Gorello Paolo, Gottardi Enrico, Crescenzi Barbara, Martelli Massimo F, Mecucci Cristina
出版信息
Haematologica. 2005 Aug;90(8):1139-41.
PMID:16079118
Abstract
This is the first report of e6a2 and e1a2 BCR/ABL1 positive chronic myeloid leukemia (CML) with cryptic deletions of the 5'ABL1 and 3'BCR in separate clones which differ in genomic regions of the deleted der(9). Both deletions were detected throughout monitoring. Imatinib mesylate stabilized this CML with rare genetic aberrations for a relatively long time.
摘要
这是关于e6a2和e1a2 BCR/ABL1阳性慢性髓性白血病（CML）的首例报告，其在不同克隆中存在5'ABL1和3'BCR的隐匿性缺失，这些克隆在缺失的der(9)基因组区域存在差异。在整个监测过程中均检测到这两种缺失。甲磺酸伊马替尼使这种具有罕见基因畸变的CML在较长时间内保持稳定。
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