Ohyashiki J H, Ohyashiki K, Ito H, Toyama K
Department of Internal Medicine, Tokyo Medical College, Japan.
Cancer Genet Cytogenet. 1988 Jul 1;33(1):119-26. doi: 10.1016/0165-4608(88)90057-x.
We performed molecular studies in five cases of Philadelphia (Ph) translocation-negative chronic myelogenous leukemia (CML). Among the five, one case showed a 7q - anomaly; the remaining four had normal karyotypes. The 5' or 3' breakpoint cluster region (bcr) DNA probes detected rearrangements in two of the five cases. The two cases with bcr rearrangement showed clinical and hematologic manifestations similar to those with Ph-positive CML; for example, basophilia in the peripheral blood and marked hepatosplenomegaly. On the other hand, the three Ph-negative CML cases without bcr rearrangement manifested somewhat different clinical manifestation; that is, they did not respond to busulfan therapy in the chronic phase. Our observations suggest a heterogeneity in Ph-negative CML with at least two subtypes: one with a rearranged bcr gene showing clinical and hematologic features akin to those of CML with a Ph translocation, and the other without such a rearrangement and with a somewhat different clinical feature. Furthermore, the present data point to the possibility of the existence of Ph-negative CML without bcr rearrangement.
我们对5例费城（Ph）染色体易位阴性的慢性粒细胞白血病（CML）患者进行了分子研究。在这5例患者中，1例显示7号染色体长臂缺失异常；其余4例核型正常。5′或3′断裂点簇集区（bcr）DNA探针在5例中的2例检测到重排。这2例bcr重排的患者表现出与Ph阳性CML相似的临床和血液学表现；例如，外周血嗜碱性粒细胞增多和明显的肝脾肿大。另一方面，3例无bcr重排的Ph阴性CML患者表现出略有不同的临床表现；即，它们在慢性期对白消安治疗无反应。我们的观察结果提示Ph阴性CML存在异质性，至少有两种亚型：一种是bcr基因重排，表现出与Ph染色体易位的CML相似的临床和血液学特征，另一种无此类重排，临床特征略有不同。此外，目前的数据表明存在无bcr重排的Ph阴性CML的可能性。
