Shimamoto T, Ohyashiki K, Ohyashiki J H, Fujimura T, Kodama A, Miyazawa K, Aizawa S, Toyama K
First Department of Internal Medicine, Tokyo Medical College, Japan.
Leukemia. 1995 Apr;9(4):640-2.
We describe a patient with a t(7;11)(p15;p15) acute myeloid leukemia who was subsequently found to harbor the Philadelphia (Ph) translocation, in addition to the t(7;11), at the second relapse. A BCR/ABL transcript was detected at the second relapse by reverse transcription-polymerase chain reaction assay; the leukemic cells had a BCR/ABL fusion gene involving the minor breakpoint cluster region (minor-BCR; situated in intron 1 of the BCR gene). Although the Ph translocation is commonly detected in de novo acute leukemia and chronic myeloid leukemia as the primary leukemia-specific chromosomal translocation, our case suggests that this cytogenetic change might occur as an additional chromosomal change in neoplastic cells. Moreover, minor-BCR/ABL rearrangements may also occur as a late appearance of Ph translocation.
我们描述了一名患有t(7;11)(p15;p15)急性髓系白血病的患者，该患者在第二次复发时，除了t(7;11)外，还被发现存在费城(Ph)易位。通过逆转录-聚合酶链反应检测在第二次复发时检测到BCR/ABL转录本；白血病细胞具有涉及小断裂点簇区域（小BCR；位于BCR基因的第1内含子）的BCR/ABL融合基因。虽然Ph易位在初发急性白血病和慢性髓系白血病中通常作为主要的白血病特异性染色体易位被检测到，但我们的病例表明这种细胞遗传学改变可能作为肿瘤细胞中的额外染色体改变而出现。此外，小BCR/ABL重排也可能作为Ph易位的晚期表现而出现。
