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- Title
Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome.
- Authors
Lo, Ken C.; Chalker, Jane; Strehl, Sabine; Neat, Michael; Smith, Owen; Dastugue, Nicole; Kearney, Lyndal; Izraeli, Shai; Kempski, Helena; Cowell, John K.
- 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.
- Subjects
COMPARATIVE genomic hybridization; LYMPHOBLASTIC leukemia; PEOPLE with Down syndrome; CHROMOSOME abnormalities; KARYOTYPES; CHROMOSOME analysis; HUMAN gene mapping; LEUKEMIA complications
- Publication
British Journal of Haematology, 2008, Vol 142, Issue 6, p934
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.2008.07280.x