Nonclonal Chromosomal Aberrations in Childhood Leukemia Survivors

Chin, Tong Foh; Ibrahim, Kamariah; Thirunavakarasu, Tharshanadevasheri; Azanan, Mohamad Shafiq; Oh, Lixian; Lum, Su Han; Yap, Tsiao Yi; Ariffin, Hany

doi:10.1080/15513815.2018.1492054

Cited by 9 publications

(4 citation statements)

References 25 publications

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“…Conventional karyotyping involving, e.g., Giemsa banding (G and R-banding) or inverted DAPI (4 ,6 -diamidino-2-phenylindole) staining is still the most precise and reliable technique used in research and clinical settings [11]. Despite its limitations in the detection of aberrations, i.e., less than one megabase, as well as karyotype heterogeneity, conventional karyotyping has proven to be an important tool for clinical diagnosis, especially among onco-hematology patients [12][13][14] and those with genetic disorders [15]. The introduction of fluorescence in situ hybridization (FISH) in cytogenetic analyses has immensely improved the detection of numerical and structural aberrations in metaphases, as well as interphases [16].…”

Section: Introductionmentioning

confidence: 99%

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

M’Kacher¹,

Colicchio

Borie

et al. 2020

Genes

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Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and a poor clinical outcome. Here, we present Telomere and Centromere staining followed by M-FISH (TC+M-FISH) for improved detection of telomere dysfunction and the identification of dicentric chromosomes in cancer patients and various genetic syndromes. Significant telomere length shortening and significantly higher frequencies of telomere loss and deletion were found in the peripheral lymphocytes of patients with cancer and genetic syndromes relative to similar age-matched healthy donors. We assessed our technique against conventional cytogenetics for the detection of dicentric chromosomes by subjecting metaphase preparations to both approaches. We identified dicentric chromosomes in 28/50 cancer patients and 21/44 genetic syndrome patients using our approach, but only 7/50 and 12/44, respectively, using standard cytogenetics. We ascribe this discrepancy to the identification of the unique configuration of dicentric chromosomes. We observed significantly higher frequencies of telomere loss and deletion in patients with dicentric chromosomes (p < 10−4). TC+M-FISH analysis is superior to classical cytogenetics for the detection of chromosomal instability. Our approach is a relatively simple but useful tool for documenting telomere dysfunction and chromosomal instability with the potential to become a standard additional diagnostic tool in medical genetics and the clinic.

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Section: Introductionmentioning

confidence: 99%

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

M’Kacher¹,

Colicchio

Borie

et al. 2020

Genes

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“…Studies based on large epidemiological cohorts already showed an association between high levels of spontaneous unstable chromosome aberrations in peripheral blood lymphocytes of healthy individuals and cancer risk independent of previous exposures to carcinogens ( 32 , 33 , 54 ). Also, cytogenetic evaluations in somatic cells of pediatric cancer patients suggest that constitutional or treatment-related karyotype instability might promote the development of an SPN ( 54 – 56 ).…”

Section: Discussionmentioning

confidence: 99%

Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms

et al. 2020

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“…Consequently, karyotypic analyses are incapable of assessing CIN in cells undergoing endoreduplication (i.e., repeated rounds of replication in the absence of mitosis) [88], and are not readily applicable to clinical samples like formalin-fixed paraffin-embedded tissues [87]. Despite these limitations, karyotypic analyses are amenable to many research and clinical settings (e.g., cell lines and patient samples), and within various cancer contexts, particularly hematological cancers [47,89]. For example, Chin and colleagues recently employed G-banding to identify chromosome aberrations (N- and S-CIN) in cells that are isolated from the peripheral blood of children with acute lymphoblastic leukemia [89], while Babu et al employed inverted DAPI staining to assess N-CIN within Hodgkin lymphoma cell lines [47].…”

Section: Cytogenetic Approachesmentioning

confidence: 99%

“…Despite these limitations, karyotypic analyses are amenable to many research and clinical settings (e.g., cell lines and patient samples), and within various cancer contexts, particularly hematological cancers [47,89]. For example, Chin and colleagues recently employed G-banding to identify chromosome aberrations (N- and S-CIN) in cells that are isolated from the peripheral blood of children with acute lymphoblastic leukemia [89], while Babu et al employed inverted DAPI staining to assess N-CIN within Hodgkin lymphoma cell lines [47].…”

Section: Cytogenetic Approachesmentioning

confidence: 99%

Detecting Chromosome Instability in Cancer: Approaches to Resolve Cell-to-Cell Heterogeneity

Lepage

Morden

Palmer

et al. 2019

Cancers

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Chromosome instability (CIN) is defined as an increased rate of chromosome gains and losses that manifests as cell-to-cell karyotypic heterogeneity and drives cancer initiation and evolution. Current research efforts are aimed at identifying the etiological origins of CIN, establishing its roles in cancer pathogenesis, understanding its implications for patient prognosis, and developing novel therapeutics that are capable of exploiting CIN. Thus, the ability to accurately identify and evaluate CIN is critical within both research and clinical settings. Here, we provide an overview of quantitative single cell approaches that evaluate and resolve cell-to-cell heterogeneity and CIN, and discuss considerations when selecting the most appropriate approach to suit both research and clinical contexts.

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Nonclonal Chromosomal Aberrations in Childhood Leukemia Survivors

Cited by 9 publications

References 25 publications

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility

Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms

Detecting Chromosome Instability in Cancer: Approaches to Resolve Cell-to-Cell Heterogeneity

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