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A diminutive chromosome 21 centromere in acute lymphoblastic leukemia

A diminutive chromosome 21 centromere in acute lymphoblastic leukemia
A diminutive chromosome 21 centromere in acute lymphoblastic leukemia
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?),det(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? (c) 2006 Elsevier Inc. All rights reserved
alphoid dna heteromorphisms, amplification, children, time, etv6, instability, fish-technique, aml1, cells, diagnosis, single, hybridization, interphase, acute lymphoblastic leukemia, leukemia, cell, patient, aneuploidy, gene, genes, karyotype, satellite, deletions, fish
0165-4608
78-81
Roberts, Kathryn A.
b2646253-9fbb-434f-a153-8370421230f9
Martineau, Mary
6cc6f57f-7b57-4583-81eb-17dac737e35c
Broadfield, Zoe J.
27b59649-1631-4036-a599-f5f81c1b9992
Gibson, Brenda E.S.
873e5ffb-2fdb-4b81-9ace-640d5a8be2f0
Harewood, Louise
79d54ed0-3ed3-48e0-9b58-8197f117fb45
Stewart, Janet
806147cb-452d-41c9-a181-002200dc4d25
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Roberts, Kathryn A.
b2646253-9fbb-434f-a153-8370421230f9
Martineau, Mary
6cc6f57f-7b57-4583-81eb-17dac737e35c
Broadfield, Zoe J.
27b59649-1631-4036-a599-f5f81c1b9992
Gibson, Brenda E.S.
873e5ffb-2fdb-4b81-9ace-640d5a8be2f0
Harewood, Louise
79d54ed0-3ed3-48e0-9b58-8197f117fb45
Stewart, Janet
806147cb-452d-41c9-a181-002200dc4d25
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e

Roberts, Kathryn A., Martineau, Mary, Broadfield, Zoe J., Gibson, Brenda E.S., Harewood, Louise, Stewart, Janet and Harrison, Christine J. (2006) A diminutive chromosome 21 centromere in acute lymphoblastic leukemia. Cancer Genetics and Cytogenetics, 167 (1), 78-81. (doi:10.1016/j.cancergencyto.2005.10.010).

Record type: Article

Abstract

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?),det(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? (c) 2006 Elsevier Inc. All rights reserved

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More information

Published date: May 2006
Keywords: alphoid dna heteromorphisms, amplification, children, time, etv6, instability, fish-technique, aml1, cells, diagnosis, single, hybridization, interphase, acute lymphoblastic leukemia, leukemia, cell, patient, aneuploidy, gene, genes, karyotype, satellite, deletions, fish

Identifiers

Local EPrints ID: 62900
URI: http://eprints.soton.ac.uk/id/eprint/62900
ISSN: 0165-4608
PURE UUID: 416341e9-187f-4671-bdfb-eb0797506faf

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Date deposited: 04 Sep 2008
Last modified: 13 Mar 2019 20:26

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Contributors

Author: Kathryn A. Roberts
Author: Mary Martineau
Author: Zoe J. Broadfield
Author: Brenda E.S. Gibson
Author: Louise Harewood
Author: Janet Stewart
Author: Christine J. Harrison

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