Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome

Renuka V. Iyer, Sheila N.J. Sait, Sei Ichi Matsui, Annemarie W. Block, Maurice Barcos, James L. Slack, Meir Wetzler, Maria R. Baer

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)29-34
Number of pages6
JournalCancer Genetics and Cytogenetics
Issue number1
StatePublished - Jan 1 2004

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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