Ichikawa S, Natsuyama M, Okano S, Hashida T, Fukumochi H, Matsumura T, Fujita K, Sugimoto T, Imashuku S
Rinsho Ketsueki. 1989 Oct;30(10):1853-8.
A 12-year-old boy was referred to our hospital because of anemia and jaundice. On admission bone marrow smears were compatible with M6 classification of the FAB, revealing 74.5% erythroblasts of all nucleated cells and 40% blasts of nonerythroid cells. Karyotype analysis revealed 46, XY. Gene rearrangement within the breakpoint cluster region (bcr) on chromosome 22 was negative at this time. Complete remission was attained by a combination chemotherapy. However, at 10 months of remission, cytogenetic studies of the bone marrow demonstrated Ph1 positive (10%). One month later, the patient fully relapsed with a 75% Ph1 positive karyotype associated with positive bcr. Subsequently, the patient died of refractory leukemia.
一名12岁男孩因贫血和黄疸被转诊至我院。入院时骨髓涂片符合FAB的M6分类，所有有核细胞中幼红细胞占74.5%，非红系细胞中原始细胞占40%。核型分析显示为46，XY。此时22号染色体上断裂簇区域（bcr）内的基因重排为阴性。联合化疗后达到完全缓解。然而，缓解10个月时，骨髓细胞遗传学研究显示Ph1阳性（10%）。1个月后，患者完全复发，核型75%为Ph1阳性，且bcr阳性。随后，患者死于难治性白血病。
