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Cancer Genet Cytogenet. 2005 Apr 15;158(2):184-7.

Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome.

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  • 1Department of Pediatrics, Kobe City General Hospital, 4-6 Minatojima-Nakamachi, Chuo-ku, Kobe 6500046, Japan. ckg-kobayashi@rio.odn.ne.jp <ckg-kobayashi@rio.odn.ne.jp>


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 these changes do not carry the same prognostic weight as for non-DS children. For DS-AMKL, therefore, other prognostic factors besides clonal cytogenetic changes need to be identified for planning optimal therapy.

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