Trisomy 11 and a complex t(11;11;22) in a patient with acute myelomonocytic leukemia (AML-M4) following myelodysplasia (MDS): A cytogenetic study of a mechanism of leukemogenesis

P. Bernasconi, P. M. Cavigliano, M. Boni, L. Malcovati, C. Astori, C. Castagnola, G. Pagnucco, L. Vanelli, S. Calatroni, M. Caresana, M. Lazzarino, C. Bernasconi

Research output: Contribution to journalArticle

Abstract

We describe a 73-year-old man diagnosed with acute myelomonocytic leukemia (AML-M4) following myelodysplasia with trisomy 11 and with a t(11;11;22) . This is the first case with both abnormalities present in the same cells and with the t(11;11;22) involving a chromosome 11 already duplicated at 11q23. This band contains the MLL gene that undergoes partial tandem duplication in patients with +11, which is 'promiscuous,' being translocated with a large number of genetic partners. Our patient had a complex karyotype that was completely defined by in situ hybridization. This technique demonstrated that the t(11;11;22) derivative with a duplication of band 11q23 carried from three to four copies of MLL. Two copies of the gene were close to each other and centromeric to the breakpoint region. Therefore, a partial tandem duplication of the MLL gene might have happened before the occurrence of t(11;11;22). Considering the associated chromosome defects, the monosomy for the long arm of chromosome 7, due to an unbalanced translocation t(7;17), further underlines the possibility that a partial tandem duplication of the MLL gene might have taken place. Copyright (C) 2000 Elsevier Science Inc.

Original languageEnglish
Pages (from-to)111-118
Number of pages8
JournalCancer Genetics and Cytogenetics
Volume116
Issue number2
DOIs
Publication statusPublished - Jan 15 2000

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

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