title: Cytogenetic analysis of de novo acute myeloid leukemia with trilineage myelodysplasia in comparison with myelodysplastic syndrome evolving to acute myeloid leukemia.
abstract: Characteristics of karyotypes were analyzed in de novo acute myeloid leukemia (AML) with trilineage myelodysplasia (AML/TMDS) at initial diagnosis and compared with myelodysplastic syndrome (MDS) cases that had evolved to AML (MDS/AML). Abnormal karyotypes were seen in 11 of 19 patients with AML/TMDS and 13 of 16 MDS/AML cases. Trisomy 8 was observed in 3 AML/TMDS cases as a sole anomaly and was also present in 3 MDS/AML cases but not as a sole finding. Although MDS/AML frequently displayed monosomies or long-arm deletions of chromosome 5, 7 and 9, only one case exhibited long-arm deletion (of chromosome 7) in AML/TMDS. Two or more chromosome aberrations were found in some cases in both groups. These findings suggest that AML/TMDS had passed through several preleukemic stages at diagnosis, as has been well documented in MDS and MDS/AML. Additionally, clonal evolution may have already occurred in AML/TMDS, as MDS transformed to AML is associated with clonal evolution.
authors.affiliation: Second Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya City, Hyogo 663-8501, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tamura
authors.forename: Y
authors.initials: Y
authors.lastname: Takemoto
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto-Tamaoki
authors.forename: K
authors.initials: K
authors.lastname: Mimura
authors.forename: Y
authors.initials: Y
authors.lastname: Sugahara
authors.forename: J
authors.initials: J
authors.lastname: Senoh
authors.forename: J I
authors.initials: JI
authors.lastname: Furuyama
authors.forename: E
authors.initials: E
authors.lastname: Kakishita
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002885:Chromosomes, Human, Pair 16; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000150:complications / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D014178:Translocation, Genetic; D014314:Trisomy