Chromosomal aberrations in chronic lymphocytic leukemia detected by conventional cytogenetics with DSP30 as a single agent: Comparison with FISH

Kotkowska, Aleksandra; Wawrzyniak, Ewa; Błoński, Jerzy Z.; Robak, Tadeusz; Korycka-Wołowiec, Anna

doi:10.1016/j.leukres.2011.01.020

Cited by 14 publications

(16 citation statements)

References 30 publications

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“…Nonetheless, detection of abnormalities by FISH is limited to the probes used and underestimates the true complexity and heterogeneity of chromosomal aberrations in CLL. The use of new B-cell mitogens, such as CD40-ligand or CpG oligonucleotide and interleukin-2, improves the growth of CLL cells in culture, increasing the detection rate of chromosomal abnormalities up to 80% of patients [77–80]. By this method, it was demonstrated that 25–37% of patients showing no aberrations by FISH carried chromosomal abnormalities not covered by the standard FISH panel (which detects trisomy 12 and deletions of 11q, 13q, and 17p) [78, 81].…”

Section: Other Abnormalities Described By Conventional G-banding Cmentioning

confidence: 99%

Genetic Abnormalities in Chronic Lymphocytic Leukemia: Where We Are and Where We Go

Puiggros

Blanco

Espinet

2014

BioMed Research International

123

122

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Chromosomal abnormalities in chronic lymphocytic leukemia (CLL) are detected in up to 80% of patients. Among them, deletions of 11q, 13q, 17p, and trisomy 12 have a known prognostic value and play an important role in CLL pathogenesis and evolution, determining patients outcome and therapeutic strategies. Standard methods used to identify these genomic aberrations include both conventional G-banding cytogenetics (CGC) and fluorescence in situ hybridization (FISH). Although FISH analyses have been implemented as the gold standard, CGC allows the identification of chromosomal translocations and complex karyotypes, the latest associated with poor outcome. Genomic arrays have a higher resolution that allows the detection of cryptic abnormalities, although these have not been fully implemented in routine laboratories. In the last years, next generation sequencing (NGS) methods have identified a wide range of gene mutations (e.g., TP53, NOTCH1, SF3B1, and BIRC3) which have improved our knowledge about CLL development, allowing us to refine both the prognostic subgroups and better therapeutic strategies. Clonal evolution has also recently arisen as a key point in CLL, integrating cytogenetic alterations and mutations in a dynamic model that improve our understanding about its clinical course and relapse.

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Section: Other Abnormalities Described By Conventional G-banding Cmentioning

confidence: 99%

Genetic Abnormalities in Chronic Lymphocytic Leukemia: Where We Are and Where We Go

Puiggros

Blanco

Espinet

2014

BioMed Research International

123

122

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“…In CLL, translocations are present in a few cases and the breakpoints affect regions recurrently involved in CLL on chromosomes 6, 11, 13, 14 and 17 (Mayr et al, 2006;Haferlach et al, 2007;Kotkowska et al, 2011). Loss of TP53 gene is frequently due to rearrangements involved in chromosome region 17p10, 17p12 (Fink et al, 2006;Mayr et al, 2006).…”

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confidence: 99%

A new genetic abnormality leading to TP53 gene deletion in chronic lymphocytic leukaemia

López¹,

Baumann²,

Costa³

et al. 2011

Br J Haematol

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SummaryThe analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22‐23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases. In addition, TP53 gene was mutated in three out of four patients. Mechanically, Low Copy Repeats (LCR) in 17p12 and 8p11 may explain the origin of the translocation by non‐allelic homologous recombination (NAHR). Isolated dic(8;17)(p11;p11) in patients with mutated IGHV genes status may not have the same prognostic impact as other mutations or deletions affecting the TP53 gene. Larger series are needed to better evaluate the clinical impact of this chromosomal aberration during the course of the disease.

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“…The cut-off values for del(13)(q14.3), del(11)(q22.3), del(17)(p13.1) and trisomy 12 were 8.4%, 8.8%, 9.6% and 5%, respectively [14,15]. Cytogenetic results are given in Table 1.…”

Section: Cytogeneticsmentioning

confidence: 99%

Changes in the apoptotic gene expression profile in CLL patients treated with rituximab combined with cladribine and cyclophosphamide-preliminary results

et al. 2012

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Chromosomal aberrations in chronic lymphocytic leukemia detected by conventional cytogenetics with DSP30 as a single agent: Comparison with FISH

Cited by 14 publications

References 30 publications

Genetic Abnormalities in Chronic Lymphocytic Leukemia: Where We Are and Where We Go

Genetic Abnormalities in Chronic Lymphocytic Leukemia: Where We Are and Where We Go

A new genetic abnormality leading to TP53 gene deletion in chronic lymphocytic leukaemia

Changes in the apoptotic gene expression profile in CLL patients treated with rituximab combined with cladribine and cyclophosphamide-preliminary results

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