Karyotyping, FISH, and PCR in Acute Lymphoblastic Leukemia

Nordkamp, Louise R.A. Olde; Schoot, Ellen van der; Berg, Henk van den

doi:10.1097/mph.0b013e3181bc9c85

Cited by 25 publications

(12 citation statements)

References 26 publications

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“…As expected, FISH is of benefit in the detection of ETV6 and CDKN2A rearrangements, since these rearrangements are cytogenetically cryptic and invisible. On the other hand, the sensitivity of G-banded karyotype for the detection of BCR/ABL1 and MLL rearrangements in ALL is relatively high (80% and 85%, respectively) [17]. Consistent with previous studies, our study showed that in ALL, ETV6 and CDKN2A genetic abnormalities, which were not identified by G-banded karyotype, could be additionally detected by FISH (28% and 33%, respectively).…”

Section: Discussionsupporting

confidence: 89%

“…One study showed that ALL FISH profile tests revealed additional genetic aberrations not detected by G-banded karyotype in up to 49% of cases, and among these, ETV6/RUNX1 ( TEL/AML1 ) abnormalities were frequently detected (44%), followed by the abnormal CDKN2A (25%) and hyperdiploidy (18%) [4]. A further study also demonstrated that G-banded karyotype failed to detect a considerable part of the ETV6/RUNX1 ( TEL/AML1 ) translocation (sensitivity 6%) [17]. As expected, FISH is of benefit in the detection of ETV6 and CDKN2A rearrangements, since these rearrangements are cytogenetically cryptic and invisible.…”

Section: Discussionmentioning

confidence: 99%

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Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach

et al. 2010

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BackgroundFluorescence in situ hybridization (FISH) analysis can provide important information in the management of patients with hematologic malignancies. However, FISH performed in addition to G-banded karyotype can be labor-intensive and expensive. The aim of this study was to evaluate whether FISH gives additional information in the setting of adequate conventional cytogenetics in cases of hematologic malignancies.MethodsBone marrow aspirates were obtained from 135 patients at diagnosis (56 AML, 32 MDS, 20 ALL, and 27 MM) between 2005 and 2010. Interphase FISH was performed using the following probes: BCR/ABL1, AML1/ETO, PML/RARA, CBFB, MLL, EGR1, CEP8, and D7S486 for AML; CEP8, D20S108, EGR1, and D7S486 for MDS; BCR/ABL1, MLL, CDKN2A (p16), ETV6, and 6q21/c-myc for ALL; IgH, TP53, D13S25, IgH/CCND1, IgH/MAF, IgH/FGFR3, and 1q21/8p21 for MM. We compared the results of FISH with the corresponding aberrations identified by G-banded karyotype.ResultsAdditional genetic aberrations detected by FISH (which were not identified by G-banded karyotype) were 4%, 9%, 50%, and 67% in AML, MDS, ALL, and MM, respectively. In ALL, CDKN2A and ETV6 FISH revealed additional genetic aberrations in 33% and 28% of cases, respectively. In MM, FISH was of benefit in detecting IgH, D13S25, TP53, and 1q21 rearrangements, not detected by G-banded karyotype (31%, 36%, 20%, and 40%, respectively).ConclusionThese results suggest that performing FISH in addition to G-banded karyotype may contribute little additional genetic information in AML and MDS, whereas routine FISH analysis appears to be an efficient screening method in ALL and MM.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach

et al. 2010

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“…It shows, as in the case of previous reports [Soszynska et al, 2008;Olde Nordkamp et al, 2009;Harrison et al, 2010], that the detection of CAs using conventional cytogenetics is distinctly improved by FISH and/or RT-PCR methods. These techniques should be used simultaneously to improve accuracy in the identification of the main CAs, since they are useful tools with diagnostic and prognostic value in the management of children with ALL.…”

Section: Discussionsupporting

confidence: 60%

Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina

et al. 2015

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The purpose of the current study was to evaluate the cytogenetic findings in 1,057 children with acute lymphoblastic leukemia (ALL) referred to the cytogenetics laboratory at the Hospital de Pediatría Dr. Juan P. Garrahan, between 1991 and 2014. Chromosomal abnormalities were evaluated by G-banding and FISH. Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. The percentage of abnormalities detected by cytogenetics was 70.1%. Four novel abnormalities, t(2;8)(p11.2;p22), inv(4)(p16q25), t(1;7)(q25;q32), and t(5;6)(q21;q21), were found in this cohort. We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods. The results were highly concordant (p < 0.7), and interestingly, FISH was relevant to confirm G-banding findings that were discordant with RT-PCR studies. This study showed the importance of performing G-banding, FISH and RT-PCR simultaneously to improve the detection of chromosomal abnormalities considering their important value in the diagnosis and prognosis of childhood ALL patients. Finally, to the best of our knowledge, this is the first series of cytogenetic findings in children with ALL reported in Argentina.

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“…Unlike karyotyping, which provides a view of the whole genome of a cell, qPCR and FISH-based methods are target specific and hence typically serve as complementary analyses to genome-wide methods (Gekas et al., 2011, Olde Nordkamp et al., 2009). D'Hulst et al.…”

Section: Introductionmentioning

confidence: 99%

Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells

et al. 2016

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SummaryGenetic changes in human pluripotent stem cells (hPSCs) gained during culture can confound experimental results and potentially jeopardize the outcome of clinical therapies. Particularly common changes in hPSCs are trisomies of chromosomes 1, 12, 17, and 20. Thus, hPSCs should be regularly screened for such aberrations. Although a number of methods are used to assess hPSC genotypes, there has been no systematic evaluation of the sensitivity of the commonly used techniques in detecting low-level mosaicism in hPSC cultures. We have performed mixing experiments to mimic the naturally occurring mosaicism and have assessed the sensitivity of chromosome banding, qPCR, fluorescence in situ hybridization, and digital droplet PCR in detecting variants. Our analysis highlights the limits of mosaicism detection by the commonly employed methods, a pivotal requirement for interpreting the genetic status of hPSCs and for setting standards for safe applications of hPSCs in regenerative medicine.

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Karyotyping, FISH, and PCR in Acute Lymphoblastic Leukemia

Cited by 25 publications

References 26 publications

Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach

Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach

Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina

Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells

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