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A diminutive chromosome 21 centromere in acute lymphoblastic leukemia

Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci


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A chance observation of a tiny constitutional variant for the centromere of chromosome 21 in two patients with acute lymphoblastic leukemia (ALL), suggested a possible correlation with the cytogenetic findings in their leukemic cells. Interphase FISH revealed three 13/21 centromeric signals and a single MLL signal in the blast cells of each patient. Metaphase FISH with dual-color application of whole-chromosome paint (wcp) and centromeric probes for chromosome 21 showed two copies of chromosome 21, one with a tiny centromeric signal which corresponded to the invisible centromere in the interphase cells. Patient 2700 had a normal karyotype in his bone marrow at diagnosis. All metaphases from his stimulated peripheral blood also had the tiny chromosome 21 centromere, proving it to be a constitutional variant. Patient 3314 showed the abnormal karyotype 46,XY,inv(1)(p?q?),del(11)(q?),del(12)(p?),inc in his bone marrow. Interphase FISH revealed only one copy each of the ABL and ETV6 genes, in addition to the loss of the MLL signal. The question arises, is there an association between the diminutive centromeric signals for chromosome 21 and the chromosomal instability demonstrated by the deletions of key genes from the leukemic blasts of these two patients?

Publication metadata

Author(s): Roberts KA, Martineau M, Broadfield ZJ, Gibson BE, Harewood L, Stewart J, Harrison CJ

Publication type: Article

Publication status: Published

Journal: Cancer Genetics and Cytogenet

Year: 2006

Volume: 167

Issue: 1

Pages: 78-81

ISSN (print): 0165-4608

ISSN (electronic): 1873-4456

Publisher: Elsevier


DOI: 10.1016/j.cancergencyto.2005.10.010

Notes: Case Reports Journal Article United States


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