Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome

K Kobayashi, I Usami, M Kubota, T Nishio… - Cancer genetics and …, 2005 - Elsevier
A 2-year-old girl with Down syndrome (DS) developed acute megakaryoblastic leukemia
(AMKL) following a transient myeloproliferative disorder (TMD). The blast cells showed an
altered karyotype of 47, XX, r (7),+ 21c. Serial cytogenetic studies during the course of the
illness showed rapid stepwise clonal chromosome changes, including a ring chromosome 7,
associated with treatment refractoriness. We reviewed 10 published cases of Down
syndrome-related AMKL (DS-AMKL) showing chromosome 7 abnormalities and found that …