Metzke-Heidemann S, Harder L, Gesk S, Schoch R, Jenisch S, Grote W, Siebert R, Schlegelberger B
Department of Human Genetics, Christian-Albrechts-University, Kiel, Germany.
Genes Chromosomes Cancer. 2001 May;31(1):10-4. doi: 10.1002/gcc.1112.
We describe the cases of two patients with Philadelphia chromosome-positive chronic myeloid leukemia (CML), in whom the extramedullary blastic phase developed during disease progression. The similar clinical presentations of these patients was accompanied by gain of identical secondary chromosome abnormalities, that is, monosomies 9, 14, and 22, and by a clustered amplification of the BCR/ABL fusion gene. The additional copies of the BCR/ABL fusion gene were integrated into the short arm of structurally abnormal chromosomes 17 in both patients. The conformity of these genetic features in two patients with a rare disease manifestation leads us to the assumption that either the clustered amplification of the BCR/ABL fusion gene or the integration of this cluster into the short arm of chromosome 17 or both are associated with extramedullar disease progression in CML. Furthermore, the insertion of amplified BCR/ABL fusion genes into structurally abnormal chromosomes provides a novel mechanism of disease progression in BCR/ABL-positive CML.
我们描述了两名费城染色体阳性慢性髓性白血病（CML）患者的病例，这两名患者在疾病进展过程中出现了髓外原始细胞期。这些患者相似的临床表现伴随着相同的继发性染色体异常，即9号、14号和22号染色体单体，以及BCR/ABL融合基因的成簇扩增。两名患者中，BCR/ABL融合基因的额外拷贝均整合到结构异常的17号染色体短臂上。两名患有罕见疾病表现的患者的这些遗传特征一致，这使我们推测，BCR/ABL融合基因的成簇扩增，或者该基因簇整合到17号染色体短臂上，或者两者兼而有之，均与CML的髓外疾病进展有关。此外，扩增的BCR/ABL融合基因插入结构异常的染色体中，为BCR/ABL阳性CML的疾病进展提供了一种新机制。
