title: Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7.
abstract: In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down's syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker chromosome. For one case, precise molecular-cytogenetic techniques revealed that the ring chromosome was derived from a chromosome 7. It was strongly suggested that the ring chromosome was derived from a chromosome 7 in another case. The ring or one of the 2 marker chromosomes was derived from a chromosome 7 in the other case. All patients responded well to initial induction therapy. While it is not clear whether the ring/marker chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker chromosome 7. For this purpose, conventional G-banding could be complemented with additional techniques such as spectral karyotyping or fluorescence in situ hybridization, which characterize the aberration in more detail. These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto, Japan.
authors.forename: Hisanori
authors.initials: H
authors.lastname: Fujino
authors.forename: Naoto
authors.initials: N
authors.lastname: Fujita
authors.forename: Kazuko
authors.initials: K
authors.lastname: Hamamoto
authors.forename: Satoshi
authors.initials: S
authors.lastname: Oobu
authors.forename: Makoto
authors.initials: M
authors.lastname: Kita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsubara
authors.forename: Ken-Ichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
authors.forename: Souichi
authors.initials: S
authors.lastname: Adachi
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D020732:Cytogenetic Analysis; D006801:Humans; D007223:Infant; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D009006:Monosomy
references.citation: Curr Treat Options Oncol. 2008 Feb;9(1):95-105
references.pmid: 18506629
references.citation: Blood. 2001 Jun 15;97(12):3727-32
references.pmid: 11389009
references.citation: Cytogenet Genome Res. 2008;121(3-4):149-73
references.pmid: 18758155
references.citation: J Clin Oncol. 2007 Dec 1;25(34):5442-7
references.pmid: 18048827
references.citation: Hum Genet. 1999 Apr;104(4):315-25
references.pmid: 10369161
references.citation: Leuk Lymphoma. 1995;18 Suppl 1:69-73
references.pmid: 7496359
references.citation: Blood. 1998 Oct 1;92(7):2322-33
references.pmid: 9746770
references.citation: Cancer Genet Cytogenet. 2005 Apr 15;158(2):184-7
references.pmid: 15796967
references.citation: Cancer Genet Cytogenet. 1991 Jul 1;54(1):119-26
references.pmid: 1829646
references.citation: J Clin Oncol. 2002 May 15;20(10):2480-5
references.pmid: 12011125
references.citation: Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44
references.pmid: 16492768
references.citation: Blood. 2007 Jun 1;109(11):4641-7
references.pmid: 17299091
references.citation: Br J Haematol. 2008 Mar;140(5):552-61
references.pmid: 18275433
references.citation: Leukemia. 2005 Dec;19(12):2130-8
references.pmid: 16304572
references.citation: Blood. 1999 Dec 1;94(11):3707-16
references.pmid: 10572083
references.citation: J Clin Oncol. 2009 Aug 20;27(24):4007-13
references.pmid: 19620491