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Multiple molecular abnormalities in Ph1 chromosome positive acute lymphoblastic leukaemia

The Ph1 chromosome is present in 95% of patients with chronic myelogenous leukaemia (CML). The Ph1 chromosome also occurs in 5–25% of children and adults with acute lymphoblastic leukaemia (ALL). This observation raises questions as to whether these diseases are similar or identical. In patients with CML the c‐abl and hcr genes are translocated and abnormally expressed. We studied molecular events related to bcr and c‐abl in five patients with ALL to determine its relationship to CML. Four had the Ph1 chromosome; the fifth a probable Ph1 chromosome. c‐abl and bcr abnormalities identical to CML were detected in four suggesting a common molecular basis. One patient with the Ph1 chromosome and c‐abl translocation lacked these molecular changes but had abnormal c‐abl gene transcription apparently unrelated to her. These data suggest that Ph1 chromosome positive ALL is heterogeneous; in some patients the molecular abnormality is identical to CML; in others c‐abl is likewise involved but via a different mechanism.