一名侵袭性慢性髓性白血病患者中罕见的框内BCR-ABL融合（e13a3）。
A rare, in-frame BCR-ABL fusion (e13a3) in a patient with an aggressive chronic myeloid leukaemia.
作者信息
Otazú Ivone B, Belén Rivero María, Olício Renata, Pinto Augusto, Zalcberg Ilana, Seuánez Héctor N
机构信息
Division de Genética, Instituto Nacional de Câncer, Universidade Federal do Rio de Janeiro, Brazil.
出版信息
Acta Haematol. 2002;108(3):150-3. doi: 10.1159/000064701.
We have identified a rare BCR-ABL chimaeric gene with multiplex and nested RT-PCR in a patient with an unusually aggressive chronic myeloid leukaemia. cDNA sequencing showed an in-frame rearrangement with a breakpoint in BCR exon e13 (b2) and fusion with ABL exon 3 following skipping of the entire ABL exon a2. These data confirm the heterogeneity of breakpoints in BCR-ABL rearrangements.
我们通过多重巢式逆转录聚合酶链反应（RT-PCR）在一名患有异常侵袭性慢性髓性白血病的患者中鉴定出一种罕见的BCR-ABL嵌合基因。cDNA测序显示在BCR外显子e13（b2）处发生读码框内重排，且在整个ABL外显子a2缺失后与ABL外显子3融合。这些数据证实了BCR-ABL重排中断点的异质性。
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