Systematic screening at diagnosis of −5/del(5)(q31), −7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics

Beyer, Valérie; Castagné, Chantal; Mühlematter, Dominique; Parlier, V.; Gmür, J; Hess, U.; Kovacsovics, Tibor; Meyer-Monard, Sandrine; Thewis, André; Tobler, Andreas; Jacky, E; Schanz, Urs; Bargetzi, Mario; Hagemeijer, Anne; Witte, Théo de; Melle, Guy van; Jotterand, Martine

doi:10.1016/j.cancergencyto.2003.10.005

Cited by 36 publications

(42 citation statements)

References 47 publications

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“…Our results are in agreement with those of previous studies (Table 4) in which the FISH technique detected the 5q deletion in 0% to 14% of cases. [16][17][18][19][20][21][22] The percentage of 5q-detection differed depending whether metaphases or interphase nuclei were studied. This could be related to a different rate of mitoses in cells carrying or not the 5q deletion.…”

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Mallo¹,

Arenillas²,

Espinet³

et al. 2008

Haematologica

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BackgroundMore than 50% of patients with myelodysplastic syndromes present cytogenetic aberrations at diagnosis. Partial or complete deletion of the long arm of chromosome 5 is the most frequent abnormality. The aim of this study was to apply fluorescence in situ hybridization of 5q31 in patients diagnosed with de novo myelodysplastic syndromes in whom conventional banding cytogenetics study had shown a normal karyotype, absence of metaphases or an abnormal karyotype without evidence of del(5q). Design and MethodsWe performed fluorescence in situ hybridization of 5q31 in 716 patients, divided into two groups: group A patients (n=637) in whom the 5q deletion had not been detected at diagnosis by conventional banding cytogenetics and group B patients (n=79), in whom cytogenetic analysis had revealed the 5q deletion (positive control group). ResultsIn group A (n=637), the 5q deletion was detected by fluorescence in situ hybridization in 38 cases (5.96%). The majority of positive cases were diagnosed as having the 5q-syndrome. The deletion was mainly observed in cases in which the cytogenetics study had shown no metaphases or an aberrant karyotype with chromosome 5 involved. In group B (n=79), the 5q deletion had been observed by cytogenetics and was confirmed to be present in all cases by fluorescence in situ hybridization of 5q31. ConclusionsFluorescence in situ hybridization of 5q31 detected the 5q deletion in 6% of cases without clear evidence of del(5q) by conventional banding cytogenetics. We suggest that fluorescence in situ hybridization of 5q31 should be performed in cases of a suspected '5q-syndrome' and/or if the cytogenetic study shows no metaphases or an aberrant karyotype with chromosome 5 involved (no 5q-chromosome).

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Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Mallo¹,

Arenillas²,

Espinet³

et al. 2008

Haematologica

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“…5q has been widely studied in myeloid leukemias, being an important marker of karyotype complexity. 34,42 Genes included in the deleted 5q31.1 region are PPP2CA, SKP1A, UBE2B and CDKL3. PPP2CA, the isoform a of the catalytic subunit of the protein phosphatase 2, has been shown to play a crucial role in DNA repair: loss of function of this phosphatase leads to inefficient DNA repair and to further hypersensibility to DNA damage.…”

Section: Discussionmentioning

confidence: 99%

DNA profiling analysis of 100 consecutive de novo acute myeloid leukemia cases reveals patterns of genomic instability that affect all cytogenetic risk groups

et al. 2007

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We have carried out a high-resolution whole genome DNA profiling analysis on 100 bone marrow samples from a consecutive series of de novo acute myeloid leukemia (AML) cases. After discarding copy number changes that are known to be genetic polymorphisms, we found that genomic aberrations (GA) in the form of gains or losses of genetic material were present in 74% of the samples, with a median of 2 GA per case (range 0-35). In addition to the cytogenetically detected aberration, GA were present in cases from all cytogenetic prognostic groups: 79% in the favorable group, 60% in the intermediate group (including 59% of cases with normal karyotype) and 83% in the adverse group. Five aberrant deleted regions were recurrently associated with cases with a highly aberrant genome (e.g., a 1.5 Mb deletion at 17q11.2 and a 750 kb deletion at 5q31.1). Different degrees of genomic instability showed a statistically significant impact on survival curves, even within the normal karyotype cases. This association was independent of other clinical and genetic parameters. Our study provides, for the first time, a detailed picture of the nature and frequency of DNA copy number aberrations in de novo AML.

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“…6 In the literature, several studies described discrepant results of karyotype and FISH analyses. 10,[14][15][16][17] In most instances, the cases with a discrepant result (positive by FISH only) had an insufficient number of metaphases or the chromosome morphology was poor. Pitchford et al recommended FISH in myelodysplastic syndrome patients only if an adequate karyotyping with at least 20 metaphases was not possible, since they were unable to demonstrate any advantage of FISH in the setting of an optimal banding analysis.…”

Section: Clinical Consequencesmentioning

confidence: 99%

Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide

Göhring

Giagounidis²,

Büsche³

et al. 2010

Haematologica

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In patients with low and intermediate risk myelodysplastic syndrome and deletion 5q (del(5q)) treated with lenalidomide, monitoring of cytogenetic response is mandatory, since patients without cytogenetic response have a significantly increased risk of progression. Therefore, we have reviewed cytogenetic data of 302 patients. Patients were analyzed by karyotyping and fluorescence in situ hybridization. In 85 patients, del(5q) was only detected by karyotyping. In 8 patients undergoing karyotypic evolution, the del(5q) and additional chromosomal aberrations were only detected by karyotyping. In 3 patients, del(5q) was only detected by fluorescence in situ hybridization, but not by karyotyping due to a low number of metaphases. Karyotyping was significantly more sensitive than fluorescence in situ hybridization in detecting the del(5q) clone. In conclusion, to optimize therapy control of myelodysplastic syndrome patients with del(5q) treated with lenalidomide and to identify cytogenetic non-response or progression as early as possible, fluorescence in situ hybridization alone is inadequate for evaluation. Karyotyping must be performed to optimally evaluate response. (clinicaltrials.gov identifier: NCT01099267 and NCT00179621)

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Systematic screening at diagnosis of −5/del(5)(q31), −7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics

Cited by 36 publications

References 47 publications

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

DNA profiling analysis of 100 consecutive de novo acute myeloid leukemia cases reveals patterns of genomic instability that affect all cytogenetic risk groups

Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide

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