Okada S, Shimizu T, Harada H, Miyoshi Y, Takizawa Y, Hagiwara S, Mori H, Niikura H, Terada H, Fujita K
Department of Hematology, Fujigaoka Hospital Showa University.
Rinsho Ketsueki. 1990 Jan;31(1):89-94.
We report two cases of Philadelphia (Ph1) chromosome positive acute mixed lineage leukemia (AMLL) with breakpoint cluster region (bcr) (M-BCR-1) rearrangement. A 31 year-old-man (case 1) and a 42 year-old-woman (case 2) were admitted to our hospital for further evaluation of leucocytosis with atypical blasts. Each case was diagnosed as having bilineal type of AMLL because: (1) blasts in each case consisted of larger myeloid cells positive for myeloperoxidase and small lymphoid cells positive for PAS, and blasts in case 2 were positive for TdT; (2) blasts in case 1 expressed B lymphoid associated antigen; (3) Southern analysis in each case showed clonal rearrangements of both the immunoglobulin heavy chain and the T cell receptor beta gene. These two cases demonstrated the Ph1 chromosome and rearrangement of the bcr (M-BCR-1) gene, but none of splenomegaly, basophilia, and additional chromosome abnormalities were observed. In addition, after achieving remissions, they didn't revert to chronic phase of chronic myelogenous leukemia (CML) and showed normal neutrophil alkaline phosphatase scores, and the Ph1 chromosome disappeared completely in case 1 and coexisted with the normal chromosome in case 2. These findings suggest that diagnosis of both cases should not be CML blast crisis (BC) but Ph1 positive acute leukemia, and Ph1 positive AMLL may be a distinct clinical entity to be distinguished from CML-BC.
我们报告了2例费城（Ph1）染色体阳性的急性混合谱系白血病（AMLL），伴有断裂点簇集区域（bcr）（M-BCR-1）重排。一名31岁男性（病例1）和一名42岁女性（病例2）因伴有非典型原始细胞的白细胞增多症入院接受进一步评估。每例均被诊断为双系型AMLL，原因如下：（1）每例中的原始细胞均由髓过氧化物酶阳性的较大髓样细胞和PAS阳性的小淋巴细胞组成，病例2中的原始细胞TdT阳性；（2）病例1中的原始细胞表达B淋巴细胞相关抗原；（3）每例的Southern分析均显示免疫球蛋白重链和T细胞受体β基因的克隆性重排。这2例均显示有Ph1染色体和bcr（M-BCR-1）基因重排，但均未观察到脾肿大、嗜碱性粒细胞增多及其他染色体异常。此外，达到缓解后，它们未恢复至慢性髓性白血病（CML）的慢性期，中性粒细胞碱性磷酸酶评分正常，病例1中的Ph1染色体完全消失，病例2中的Ph1染色体与正常染色体共存。这些发现提示这2例的诊断不应为CML急变期（BC），而应为Ph1阳性急性白血病，且Ph1阳性AMLL可能是一种有别于CML-BC的独特临床实体。
