THE SIGNIFICANCE OF THE PH1 CHROMOSOME IN ACUTE MYELOBLASTIC LEUKEMIA: SERIAL CYTOGENETIC STUDIES IN A CRITICAL CASE

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Abstract
Serial cytogenetic studies of the bone marrow during a prolonged complete remission of AML in a child revealed a dual population of Ph1-positive and -negative cells whose proportions varied with therapy. Although the further course remained typical of AML, blood and bone marrow during remission intermittently showed features consistent with incipient CML. The blastic stem line emerging in relapse was 100% Ph1 positive and showed aneuploidy and a marker chromosome. The findings support the view that the blastic crisis of CML is identical with AML, for they indicate that the blastic transformation of Ph1-positive cells can occur before the normal marrow population has been completely replaced by descendants of the mutant clone and the proliferative phase of CML has been reached. This further suggests that CML should be included among the conditions carrying a high risk of acute leukemia and that it is the chromosomal defect rather than the myeloproliferative process which constitutes the predisposing factor, in analogy to trisomies and other chromosomal aberrations.

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