Evidence for the Clonal Origin of Chronic Myeloid Leukemia From a Sex Chromosome Mosaic: Clinical, Cytogenetic, and Marrow Culture Studies

摘要: Cytogenetic studies on a 7½-yr-old child presenting with clinical and hematological features of chronic myeloid leukemia (CML) revealed constitutional 46 XY/47 XYY mosaicism in skin, blood, marrow. A third XY, Ph1 cell line predominated the marrow initial presentation subsequent acute transformation. Assessment granulocytic colony-forming capacity agar culture that cells (CFCs) were greatly increased circulation possessed abnormal light buoyant density low susceptibility to tritiated thymidine killing which distinguishes leukemic CFCs from normal. During transformation was lost but small, poorly differentiated clusters persisted culture. Only metaphase obtained following cytogenetic analysis vitro colonies displaying growth characteristics The coexistence CML sex chromosome this patient provides further support for uniclonal origin indicates instability implicated may carry an risk evolution emergence chromosome.