Detection of cytogenetic abnormalities in mature B-cell neoplasms: the value of cultures with different mitogens

Oliveira, Roberta Maria da Silva; Velloso, Elvira Deolinda Rodrigues Pereira

doi:10.1016/j.bjhh.2014.07.008

Cited by 1 publication

(5 citation statements)

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“…In addition, the success of culture with TPA (100%) versus DSP30 + IL‐2 (72.7%) was that the band resolution observed with TPA was more successful. 13 Our results indicated that the G‐banding Karyotype was unsuccessful in detecting interstitial deletions with a genome size range <5–10 Mb, especially 13q14 region. 34 One of the main reasons for not observing was the low resolution of this method.…”

Section: Discussionmentioning

confidence: 73%

“…On the other hand, no new clonal abnormalities were observed in DSP30 + IL‐2 cultures, unlike TPA. In addition, the success of culture with TPA (100%) versus DSP30 + IL‐2 (72.7%) was that the band resolution observed with TPA was more successful 13 . Our results indicated that the G‐banding Karyotype was unsuccessful in detecting interstitial deletions with a genome size range <5–10 Mb, especially 13q14 region 34 .…”

Section: Discussionmentioning

confidence: 74%

“…Those results were considered abnormal if the pattern of abnormal hybridization of the probe was higher than the cut‐off range of the control. Cut‐off value in our laboratory for each of the probes, respectively determined as +12 > 15%, del 17 (p13) ≥ 10%, del 11 (q23) ≥ 10%, del 13 (q14) and del 13 (q34) > 10%. According to the National Comprehensive Cancer Network (NCCN®) instruction, the risk of cytogenetic changes by the FISH technique was classified into three levels, which are 1—Favorable, 2—Neutral, and 3—Unfavorable 23 ; each level corresponds to a series of specific chromosomal changes shown in (Supplementary Table 2 ).…”

Section: Methodsmentioning

confidence: 99%

“…The low proliferation of B cell clones disrupted the chromosomal analysis 12 . Standard cytogenetic methods have observed up to 30% of CLL clonal cytogenetic abnormalities, and up to 80% of them have been observed by the Fluorescent In‐situ Hybridization (FISH) technique using specific probes 13 . Although the standard CLL FISH panel is highly specialized in the prognosis of CLL, shreds of evidence have shown that chromosomal analysis may provide further information 12 …”

Section: Introductionmentioning

confidence: 99%

“…12 Standard cytogenetic methods have observed up to 30% of CLL clonal cytogenetic abnormalities, and up to 80% of them have been observed by the Fluorescent In-situ Hybridization (FISH) technique using specific probes. 13 Although the standard CLL FISH panel is highly specialized in the prognosis of CLL, shreds of evidence have shown that chromosomal analysis may provide further information. 12 In the G-banding karyotype method, using specific stimuli, it is possible to increase the resolution and preserve malignant clones that can be increased in identifying the chromosomal abnormalities, especially Complex Karyotypes (CK).…”

Section: Introductionmentioning

confidence: 99%

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Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients

Sadria

Motamed

Anvar³

et al. 2022

Cancer Reports

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Background and Aim: Chronic lymphocytic leukemia (CLL) is a monoclonal malignancy of B lymphocytes. Since common mutations in NOTCH1 and SF3B1, along with other possible chromosomal alterations, change disease severity and survival of patients with CLL, we aimed to evaluate the correlation of common mutations in NOTCH1 and SF3B1 as the poor prognostic markers with chromosomal abnormalities and clinical hematology.Method: This retrospective study was performed on the peripheral blood of 51 patients diagnosed before chemotherapy with CLL. G-banding karyotype and FISH were performed. For NOTCH1, exon 34 and for SF3B1, exons 14,15,16 were assessed using Sanger sequencing. Results:The mutation frequency of NOTCH1 and SF3B1 with the pathogenic clinical status was 6:51 (11.76%), and variants obtained from both genes were 9:51 (17.64%). The frequency of SF3B1 mutation (K666E) was higher than in previous studies (p-value <.05). There was a significant correlation between NOTCH1 mutations and del17p13 (p-value = .068), also SF3B1 mutations with del11q22 (p-value = .095) and del13q14 (p-value = .066). Up to 90% of the specific stimuli used for the G-banding karyotype successfully identified the malignant clone. There was a significant relationship between the cluster of differentiation 38 (CD38) expression level and NOTCH1 mutations (p-value = .019) and a significant correlation between Binet classification and the SF3B1 (p-value = .096). Conclusion:The correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities and CD38 expression may reveal the overall patient's survival rate. The mutations may be effective in the clonal expansion and progression of CLL, particularly in the diagnosis stage, as well as the control and management of the treatment.

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 74%