Cirmena Gabriella, Aliano Stefania, Fugazza Giuseppina, Bruzzone Roberto, Garuti Anna, Bocciardi Renata, Bacigalupo Andrea, Ravazzolo Roberto, Ballestrero Alberto, Sessarego Mario
Department of Hematology, University of Genoa, V.le Benedetto XV-6, 16132 Genoa, Italy.
Cancer Genet Cytogenet. 2008 Jun;183(2):105-8. doi: 10.1016/j.cancergencyto.2008.02.005.
We report the occurrence of a BCR-JAK2 fusion gene in a case of acute myeloid leukemia (AML) resulting from a t(9;22)(p24;q11) translocation as the sole cytogenetic abnormality. The BCR-JAK2 fusion gene has the same breakpoint in BCR as is found in the BCR/ABL p210. The chimeric gene is the result of a reciprocal translocation between chromosomes 9 and 22, which implies a double break on chromosome 9; this has allowed generating an in-frame fusion transcript. Previously, BCR-JAK2 rearrangement was observed in a single case with atypical chronic myelogenous leukemia (CML), but in that case the breakpoint in the BCR was different.
我们报告了1例急性髓系白血病（AML）中出现BCR-JAK2融合基因，该病例由t(9;22)(p24;q11)易位导致，这是唯一的细胞遗传学异常。BCR-JAK2融合基因在BCR中的断点与BCR/ABL p210中的相同。该嵌合基因是9号和22号染色体之间相互易位的结果，这意味着9号染色体上有双重断裂；这使得产生了一个读码框内的融合转录本。此前，在1例非典型慢性髓性白血病（CML）病例中观察到BCR-JAK2重排，但在该病例中BCR的断点不同。
