title: Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome.
abstract: Massive hyperdiploidy (>50 chromosomes) and tetraploidy (4n) are rare cytogenetic abnormalities in myelocytic malignancies, and their significance is unknown. We report on 11 patients with acute myelocytic leukemia (AML) and two patients with a myelodysplastic syndrome (MDS) with massive hyperdiploidy (10 patients) or tetraploidy (3 patients) seen at our institution over a 12-year period. Eleven patients were male and two were female. Age range was 44-84 years (median, 70 years). Only one AML patient had a previous MDS, and no patient had therapy-related disease. One or more copies of chromosomes 8 and 19 were gained in eight patients each; other frequently gained chromosomes included 13, 15, and 21. Eight patients had structural abnormalities in addition to chromosome gain; del(5q) was most common (five patients). Eleven patients received induction chemotherapy, but only four achieved complete remission. Survival ranged from 1 to 22 months, with a median of 6 months. We conclude that massive hyperdiploidy and tetraploidy are infrequent abnormalities in AML and MDS, are seen primarily in de novo disease in older male patients and are associated with a low remission rate and short survival. Massive hyperdiploidy and tetraploidy define a prognostically unfavorable cytogenetic group in de novo AML.
authors.affiliation: Leukemia Section, Department of Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.
authors.forename: Renuka V
authors.initials: RV
authors.lastname: Iyer
authors.forename: Sheila N J
authors.initials: SN
authors.lastname: Sait
authors.forename: Sei-Ichi
authors.initials: S
authors.lastname: Matsui
authors.forename: AnneMarie W
authors.initials: AW
authors.lastname: Block
authors.forename: Maurice
authors.initials: M
authors.lastname: Barcos
authors.forename: James L
authors.initials: JL
authors.lastname: Slack
authors.forename: Meir
authors.initials: M
authors.lastname: Wetzler
authors.forename: Maria R
authors.initials: MR
authors.lastname: Baer
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D011123:Polyploidy; D016896:Treatment Outcome