title: Transient abnormal myelopoiesis in a Down syndrome newborn followed by acute myeloid leukemia: identification of the same chromosomal abnormality in both stages.
abstract: A transient abnormal myelopoiesis was observed in a newborn with Down syndrome. Cytogenetic study revealed multiple oligoclonal abnormalities: 47,XY,inv(6)(p23q21),+21c[3]/47,XY,der(7)t(1;7)(q25;p15),+21c[1]/47,XY,del(13)(q?),+21c[1]/47,XY,+21c[15]. Ten months after the patient achieved remission, the transient abnormal myelopoiesis evolved to an acute megakaryoblastic leukemia. Cytogenetic study revealed only a single clonal abnormality, 47,XY,der(7)t(1;7)(q25;p15),+21c, identical to one of the structural changes seen at birth. Sequence analysis of the GATA1 gene revealed a deletion-insertion mutation within the exon 2 introducing a stop codon after Arg 64. It may be that the der(7)t(1;7)(q25;p15) abnormality played some selective role in the development of acute megakaryoblastic leukemia in this patient. To our knowledge, the present case is unique in demonstrating a subclone with der(7)t(1;7)(q25;p15) evolving to acute leukemia.
authors.affiliation: Department of Hematology/Oncology, Shiga Medical Center for Children, 5-7-30 Moriyama, Moriyama 524-0022, Moriyama, Japan. tkitoh-mccs@umin.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Kitoh
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Kenji
authors.initials: K
authors.lastname: Nakamura
authors.forename: Tamotsu
authors.initials: T
authors.lastname: Irino
authors.forename: Mitsuhiko
authors.initials: M
authors.lastname: Osaka
mesh_terms: D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000235:genetics* / Q000276:immunology; D005091:Exons; D050982:GATA1 Transcription Factor / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000276:immunology; D008297:Male; D038042:Myelopoiesis / Q000235:genetics*; D017422:Sequence Analysis, DNA; D032681:Spectral Karyotyping; D014178:Translocation, Genetic
chemical_list: D018388:Codon, Terminator; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human