Sex chromosome loss may represent a disease-associated clonal population in chronic lymphocytic leukemia.
Genes Chromosomes Cancer
; 53(3): 240-7, 2014 Mar.
Article
in En
| MEDLINE
| ID: mdl-24424752
ABSTRACT
Whether sex chromosome loss (SCL) is an age-related phenomenon or a cytogenetic marker of hematological disease is unclear. To address this issue in chronic lymphocytic leukemia (CLL), we investigated 20 cases with X or Y chromosome loss detected by conventional cytogenetics (CC). The frequency of SCL was low in CLL (2.3%). It was the sole abnormality, as detected by CC, in 10/20 (50%) patients. Fluorescence in situ hybridization (FISH) analyses confirmed SCL in all patients tested, present in 5-88% of cells (median 68%). Deletions of 13q were observed by FISH in 16/20 (80%) patients. Compared with CLL without SCL, SCL was significantly associated with 13q deletion, especially when bi-allelic (P = 0.04). Co-hybridization analyses showed that SCL could be a concomitant, primary or secondary change, or be present in an independent clone. FISH analyses were performed on blood sub-populations isolated by Ficoll or flow cytometry. Comparing mononuclear cells (including CLL cells) and polynuclear cells separated by Ficoll, a maximum of 2% of polynuclear cells were found with SCL, whereas mononuclear cells exhibited a significantly higher loss frequency (range 6-87%) (P = 0.03). Comparing B-cells (including CLL cells) and T-cells sorted by flow cytometry, the proportion of B-CD19+ cells with SCL was significantly higher (range 88-96%) than that observed in T-CD3+ cells (range 2-6%) (P = 0.008). We conclude that SCL has to be considered as a clonal aberration in CLL that may participate in the oncogenic process.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sex Chromosome Aberrations
/
Leukemia, Lymphocytic, Chronic, B-Cell
/
Chromosomes, Human, X
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Chromosomes, Human, Y
/
Aneuploidy
Type of study:
Clinical_trials
/
Risk_factors_studies
Limits:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Genes Chromosomes Cancer
Journal subject:
BIOLOGIA MOLECULAR
/
NEOPLASIAS
Year:
2014
Document type:
Article
Affiliation country:
France