Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome

Ken C. Lo, Jane Chalker, Sabine Strehl, Michael Neat, Owen Smith, Nicole Dastugue, Lyndal Kearney, Shai Izraeli, Helena Kempski, John K. Cowell

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Twenty-five cases of B-cell precursor acute lymphoblastic leukaemia (ALL) from Down syndrome (DS) patients were analyzed using array comparative genomic hybridization (aCGH) and compared with two other subgroups of non-DS patients with ALL; five cases with high-hyperdiploidy (HH) and nine cases with ETV6-RUNX1 positive clones. Seven cases of DS-acute megakaryoblastic leukaemia (AMKL) were also included, DS-ALL cases showed relatively stable karyotypes with cryptic losses and gains that most frequently involved chromosomes X, 1, 2, 9, 11, 16, and 17. The most consistent change involved a deletion in 2p, spanning region Chr2:88273220-91084234, which in some cases appeared to be homozygous. ALL from non-DS patients showed a similar overall karyotypic stability, although gains of chromosome 21 were infrequent in the ETV6-RUNX1 positive cases. The most consistent change in this group involved a 12p deletion, where Chr12:10383878-16017619 defined the common region of overlap. All HH-ALL karyotypes showed variable gains of chromosome 21. This overall analysis supports the suggestion that, although constitutional trisomy 21 predisposes to ALL/AMKL, the cytogenetic changes associated with DS-ALL in particular, are most similar to those found in non-DS ETV6-RUNX1 positive ALL. The HH-ALL group, however, undergoes distinct karyotypic evolution not dependent on chromosome translocation/deletion events.

Original languageEnglish (US)
Pages (from-to)934-945
Number of pages12
JournalBritish Journal of Haematology
Volume142
Issue number6
DOIs
StatePublished - Sep 1 2008
Externally publishedYes

Keywords

  • Acute lymphoblastic leukaemia
  • Acute megakaryoblastic leukaemia
  • Comparative genomic hybridization
  • Down syndrome

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome'. Together they form a unique fingerprint.

  • Cite this