Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis

Safavi, Setareh; Paulsson, Kajsa

doi:10.1182/blood-2016-10-743765

Cited by 81 publications

(124 citation statements)

References 31 publications

(79 reference statements)

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“…Based on the FISH results that suggested the presence of a hypodiploid clone, additional metaphases were scanned to search for the hypodiploid clone. In total, four cells with nearhaploid chromosome complement were found 27, XY, +8, +10, +21 [4] / 46, XY [30] (Figure 4). The missing chromosomes from the near haploid karyotype were consistent with the monosomy chromosomes found by FISH analysis.…”

Section: Resultsmentioning

confidence: 99%

“…ALL patients in the sub-group with 23-29 chromosomes represent a minor category with a particularly unfavourable outcome [10]. In near-haploid ALL, retained disomies primarily comprise chromosomes X/Y, 8, 10, 14, 18, and 21, whereas retention of disomies X/Y, 1,5,6,8,10,11,14,18,19,21, and 22 is seen in low hypodiploid ALL [4]. The patient in the present case retained disomy for only chromosomes 8, 10, 21, X and Y and therefore was placed within this sub-group.…”

Section: Discussionmentioning

confidence: 99%

“…1-High hypodiploidy [40-45 chromosomes]. Hypodiploidy with a count of 45 chromosomes is the most prevalent form of hypodiploid ALL [4].…”

Section: Introductionmentioning

confidence: 99%

“…Near haploidy as well as low hypodiploidy are each detected in ∼0.5% of children with ALL [4]. Doubled hypodiploidy (masked hypodiploidy), doubling of the hypodiploid chromosome content by endoreduplication, is often observed in near haploidy and low hypodiploid sub-groups and both are associated with an unfavourable outcome [6].…”

Section: Introductionmentioning

confidence: 99%

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Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Ghaoui¹,

Hung²,

Padhye³

2018

obm genet

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Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case is presented of near-haploid childhood ALL where fluorescence in situ hybridisation (FISH) provided an insight into the near-haploidy chromosomal aberration initially missed on routine karyotyping due to culture effect and analysis software constraints. FISH primary results followed by further confirmatory studies, inclusive of karyotyping and single nucleotide polymorphism (SNP) microarray, clinically placed the patient in the correct treatment stratification. The patient remained in morphological and cytogenetic remission 12 months after commencing the high risk arm of an international collaborative (*AIEOP-BFM-ALL [Associazione Italiana Ematologia Oncologia Pediatrica-Berlin-Franklin-Munste]) 2009 treatment protocol for children and adolescents with ALL.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…1-High hypodiploidy [40-45 chromosomes]. Hypodiploidy with a count of 45 chromosomes is the most prevalent form of hypodiploid ALL [4].…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Ghaoui¹,

Hung²,

Padhye³

2018

obm genet

View full text Add to dashboard Cite

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“…Recently, the number of genetic modifications found in ALL patients has been extremely increased by developed multi next-generation sequencing (NGS) methods such as whole-genome sequencing and transcriptome sequencing (31). Several numerical chromosome changes have been recognized in chALL, including hypodiploidy, hyperdiploidy, near-haploidy, and complex karyotypes (61). The prevalence of hyperdiploidy is…”

Section: Deoxyribonucleic Acid-based Biomarkersmentioning

confidence: 99%

Drug Resistance Biomarkers and Their Clinical Applications in Childhood Acute Lymphoblastic Leukemia

et al. 2020

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Biomarkers are biological molecules found in body fluids or tissues, which can be considered as indications of a normal or abnormal process, or of a condition or disease. There are various types of biomarkers based on their application and molecular alterations. Treatment-sensitivity or drug resistance biomarkers include prognostic and predictive molecules with utmost importance in selecting appropriate treatment protocols and improving survival rates. Acute lymphoblastic leukemia (ALL) is the most prevalent hematological malignancy diagnosed in children with nearly 80% cure rate. Despite the favorable survival rates of childhood ALL (chALL), resistance to chemotherapeutic agents and, as a consequence, a dismal prognosis develops in a significant number of patients. Therefore, there are urgent needs to have robust, sensitive, and disease-specific molecular prognostic and predictive biomarkers, which could allow better risk classification and then better clinical results. In this article, we review the currently known drug resistance biomarkers, including somatic or germ line nucleic acids, epigenetic alterations, protein expressions and metabolic variations. Moreover, biomarkers with potential clinical applications are discussed.

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Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping

et al. 2022

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Acute lymphoblastic leukemia (ALL) is a malignancy that can be subdivided into distinct entities based on clinical, immunophenotypic and genomic features, including mutations, structural variants (SVs), and copy number alterations (CNA). Chromosome banding analysis (CBA) and Fluorescent In-Situ Hybridization (FISH) together with Multiple Ligation-dependent Probe Amplification (MLPA), array and PCR-based methods form the backbone of routine diagnostics. This approach is labor-intensive, time-consuming and costly. New molecular technologies now exist that can detect SVs and CNAs in one test. Here we apply one such technology, optical genome mapping (OGM), to the diagnostic work-up of 41 ALL cases. Compared to our standard testing pathway, OGM identified all recurrent CNAs and SVs as well as additional recurrent SVs and the resulting fusion genes. Based on the genomic profile obtained by OGM, 32 patients could be assigned to one of the major cytogenetic risk groups compared to 23 with the standard approach. The latter identified 24/34 recurrent chromosomal abnormalities, while OGM identified 33/34, misinterpreting only 1 case with low hypodiploidy. The results of MLPA were concordant in 100% of cases.Overall, there was excellent concordance between the results. OGM increased the detection rate and cytogenetic resolution, and abrogated the need for cascade testing, resulting in reduced turnaround times. OGM also provided opportunities for better patient stratification and accurate treatment options. However, for comprehensive cytogenomic testing, OGM still needs to be complemented with CBA or SNP-array to detect ploidy changes and with BCR::ABL1 FISH to assign patients as soon as possible to targeted therapy.Katrina Rack and Jolien De Bie are co-first authors. Lucienne Michaux and Barbara Dewaele are co-senior authors.

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Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis

Cited by 81 publications

References 31 publications

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Drug Resistance Biomarkers and Their Clinical Applications in Childhood Acute Lymphoblastic Leukemia

Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping

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