CD9 predicts ETV6-RUNX1 in childhood B-cell precursor acute lymphoblastic leukemia

Blunck, Caroline Barbieri; Terra-Granado, Eugênia; Noronha, Elda Pereira; Wajnberg, Gabriel; Passetti, Fábio; Pombo‐de‐Oliveira, Maria S.; Emerenciano, Mariana

doi:10.1016/j.htct.2018.11.007

Cited by 13 publications

(10 citation statements)

References 21 publications

(23 reference statements)

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“…In B-ALL patients, 25-30% of patients have hyperdiploidy, 25% have t(12;21), 3-5% have t(9;22), 10% have MLL translocations, and 2% have iAMP21 chromosomal abnormalities. Once an aberration is detected, it can aid in the determination of the treatment regimen [65,66]. As another example, the detection of specific chromosome aberrations, such as t(9;22)(q34;q11.2) for BCR-ABL1, which results in the formation of the Philadelphia (Ph) chromosome, or t(12;21) aberrations of TEL/AML1 gene translocations are used to assign B-ALL patients to specific targeted therapies [67].…”

Section: Discussionmentioning

confidence: 99%

Microfluidic Device for On-Chip Immunophenotyping and Cytogenetic Analysis of Rare Biological Cells

Weerakoon-Ratnayake

Vaidyanathan

Larky

et al. 2020

Cells

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The role of circulating plasma cells (CPCs) and circulating leukemic cells (CLCs) as biomarkers for several blood cancers, such as multiple myeloma and leukemia, respectively, have recently been reported. These markers can be attractive due to the minimally invasive nature of their acquisition through a blood draw (i.e., liquid biopsy), negating the need for painful bone marrow biopsies. CPCs or CLCs can be used for cellular/molecular analyses as well, such as immunophenotyping or fluorescence in situ hybridization (FISH). FISH, which is typically carried out on slides involving complex workflows, becomes problematic when operating on CLCs or CPCs due to their relatively modest numbers. Here, we present a microfluidic device for characterizing CPCs and CLCs using immunofluorescence or FISH that have been enriched from peripheral blood using a different microfluidic device. The microfluidic possessed an array of cross-channels (2–4 µm in depth and width) that interconnected a series of input and output fluidic channels. Placing a cover plate over the device formed microtraps, the size of which was defined by the width and depth of the cross-channels. This microfluidic chip allowed for automation of immunofluorescence and FISH, requiring the use of small volumes of reagents, such as antibodies and probes, as compared to slide-based immunophenotyping and FISH. In addition, the device could secure FISH results in <4 h compared to 2–3 days for conventional FISH.

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Section: Discussionmentioning

confidence: 99%

Microfluidic Device for On-Chip Immunophenotyping and Cytogenetic Analysis of Rare Biological Cells

Weerakoon-Ratnayake

Vaidyanathan

Larky

et al. 2020

Cells

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“…In addition to immunophenotyping, a variety of genetic aberrations underlie the specific BCP-ALL subtypes and their identification is of great importance for risk group stratification. Quick detection of potential genetic aberrations is beneficial for the patients, as it enables appropriate therapeutic decisions to be taken [ 3 , 6 , 14 ]. While flow cytometry as a technique is historically older than modern cytogenetic and molecular genetic methods, it is still considered very useful and has many advantages, such as lower cost and faster results availability (within the same working day).…”

Section: Introductionmentioning

confidence: 99%

“…Commonly assessed genetic aberrations underlying BCP-ALL that have evidenced prognostic significance include: The ETV6::RUNX1 gene fusion (previously known as TEL-AML1 ) is a result of chromosomal translocation t(12;21)(p13;q22) that is present in 22–25% of BCP-ALL, and correlates with good outcome in children [ 3 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ]. Philadelphia chromosome is the result of a reciprocal translocation t(9;22)(q34;q11) that results with a fusion gene named BCR::ABL1 and is associated with poor prognosis for BCP-ALL patients [ 3 , 19 , 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction

Kulis

Sędek

Słota

et al. 2022

Genes

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Immunophenotypic characterization of leukemic cells with the use of flow cytometry (FC) is a fundamental tool in acute lymphoblastic leukemia (ALL) diagnostics. A variety of genetic aberrations underlie specific B-cell precursor ALL (BCP-ALL) subtypes and their identification is of great importance for risk group stratification. These aberrations include: ETV6::RUNX1 fusion gene, Philadelphia chromosome (BCR::ABL1 fusion gene), rearrangements of the KMT2A, TCF3::PBX1 fusion gene and changes in chromosome number (hyperdiploidy and hypodiploidy). Diagnostic panels for BCP-ALL usually include B-cell lineage specific antigens: CD19, CD10, CD20, maturation stage markers: CD34, CD10, CD38, TdT, IgM and other markers useful for possible genetic subtype indication. Some genetic features of leukemic cells (blasts) are associated with expression of certain antigens. This review comprehensively summarizes all known research data on genotype-immunophenotype correlations in BCP-ALL. In some cases, single molecules are predictive of particular genetic subtypes, i.e., NG2 with KMT2A gene rearrangements or CD123 with hyperdiploidy. However, much more information on possible genotype or prognosis can be obtained with wider (≥8-color) panels. In several studies, a quantitative antigen expression scale and advanced statistical analyses were used to further increase the specificity and sensitivity of genotype/immunophenotype correlation detection. Fast detection of possible genotype/immunophenotype correlations makes multicolor flow cytometry an essential tool for initial leukemia diagnostics and stratification.

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“…In B-ALL patients, 25-30% of patients have hyperdiploidy, 25% have t(12;21), 3-5% have t(9;22), 10% have MLL translocations, and 2% have iAMP21 chromosomal abnormalities. Once an aberration is detected, it can aid in the determination of the treatment regimen [73,74]. As another example, the detection of specific chromosome aberrations such as t(9;22)(q34;q11.2) for BCR-ABL1, which results in the formation of the Philadelphia (Ph) chromosome, or t(12;21) aberrations of TEL/AML1 gene translocations are used to assign B-ALL patients to specific targeted therapies [75].…”

Section: Discussionmentioning

confidence: 99%

Microfluidic Device for On-Chip Immunophenotyping and Cytogenetic Analysis of Rare Biological Cells

Weerakoon-Ratnayake¹,

Vaidyanathan²,

Larkey³

et al. 2019

Preprint

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The role of circulating plasma cells (CPCs) and circulating leukemic cells (CLCs) as biomarkers for several blood cancers, such as multiple myeloma and leukemia, respectively, have recently been reported. These markers can be attractive due to the minimally invasive nature of their acquisition through a blood draw (i.e., liquid biopsy) negating the need for painful bone marrow biopsies. CPCs or CLCs can be used for cellular/molecular analyses, such as immunophenotyping or fluorescence in situ hybridization (FISH). FISH, which is typically carried out on slides involving complex workflows, becomes problematic when operating on CLCs or CPCs due to their relatively modest numbers. Here, we present a microfluidic device for characterizing CPCs and CLCs enriched from peripheral blood using immunofluorescence or FISH. The microfluidic possessed an array of cross-channels (2-4 µm in depth and width) that interconnected a series of input and output fluidic channels. Placing a cover plate over the device formed microtraps, the size of which was defined by the width and depth of the cross-channels. This microfluidic chip allowed for automating immunofluorescence and FISH requiring the use of small volumes of reagents, such as antibodies and probes, as compared to slide-based immunophenotyping and FISH. In addition, the device could secure FISH results in <4 h compared to 2-3 d for conventional FISH.

show abstract

CD9 predicts ETV6-RUNX1 in childhood B-cell precursor acute lymphoblastic leukemia

Cited by 13 publications

References 21 publications

Microfluidic Device for On-Chip Immunophenotyping and Cytogenetic Analysis of Rare Biological Cells

Microfluidic Device for On-Chip Immunophenotyping and Cytogenetic Analysis of Rare Biological Cells

Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction

Microfluidic Device for On-Chip Immunophenotyping and Cytogenetic Analysis of Rare Biological Cells

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