Significance of Cytogenetics in Leukemia Diagnostics

Wan, T. S. K.; Hui, Eleanor K. C.; Ng, Margaret H.L.

doi:10.1007/s40142-018-0147-8

Cited by 1 publication

(2 citation statements)

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“…In the second case (D2) we identified intrachromosomal amplification of chromosome 21 (iAMP21). This is a new genetic subgroup of the 2016 revised WHO classification accounting for about 2% of B-ALL cases and has been associated with poor outcome and high relapse rate when treated with standard therapy [22]. This finding may be also detected by FISH by using specific RUNX1 probes.…”

Section: B) Sample At Relapse Cn-loh Of Chromosomesmentioning

confidence: 93%

“…Hypodiploid clones can undergo endoreduplication of their entire chromosome complement, which leads to a secondary hyperdiploid clone. The hyperdiploid clone may be the predominant clone identified, hereby masking the presence of a hypodiploid karyotype [21,22]. Masked hypodiploidy may be recognized based on gained chromosomes that are represented by heterozygous tetrasomies and other chromosomes show CN-LOH.…”

Section: B) Sample At Relapse Cn-loh Of Chromosomesmentioning

confidence: 99%

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Clinical impact of genomic analysis in children with B-acute lymphoblastic leukemia: A pilot study in Slovakia

Vaska

Makohusová

Plevová

et al. 2019

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Acute lymphoblastic leukemia (ALL) belongs to a genetically heterogeneous disease associated with a wide range of chromosomal and molecular changes. Determining these changes at the time of diagnosis can help the therapeutic decision, and contributes to the prediction of patients' clinical outcomes. A part of BALL (B-other) lacks cytogenetic abnormalities with clinical relevance for prognosis. Our first goal was to retrospectively review genetic results of patients from 2013-2017 and identify number of Bother patients in Slovak population. The second goal was to implement single nucleotide polymorphism (SNP) array analysis to improve the diagnosis and risk stratification. In this study we reviewed 133 BALL patients. We found that nearly 40% of them (52 cases) belonged to the Bother ALL group. Eighteen Bother ALL patients were subjected to the analysis using SNP-array. Overall, we identified 126 cytogenomic changes and in 4 patients the SNP array revealed clinically relevant markers of adverse prognosis and high relapse risk. Integrating identified genetic changes into clinical practice can bring improvement of prognosis assessment for children with ALL in Slovakia.

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Section: B) Sample At Relapse Cn-loh Of Chromosomesmentioning

confidence: 93%

Section: B) Sample At Relapse Cn-loh Of Chromosomesmentioning

confidence: 99%