dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes

Leuk Res. 2008 Jan;32(1):159-61. doi: 10.1016/j.leukres.2007.03.033. Epub 2007 May 16.

Abstract

Duplication of the long arm of chromosome 1 (1q) has been detected accompanied with other chromosome abnormalities in Myelodysplastic Syndromes (MDS). However, as a sole karyotypic change, it is rarely observed. We present here two patients affected of a MDS that showed a dup(1)(q21q32) as a sole cytogenetic change in their bone marrow cells. Complementary methodologies confirmed the duplication of chromosome 1q and, did not show additional cryptic chromosome abnormalities. One patient acquired a secondary trisomy 8 and the other one progressed toward an acute leukemia with no additional cytogenetic alterations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 8
  • Female
  • Humans
  • Leukemia / genetics*
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Spectral Karyotyping
  • Trisomy