Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates

Ulrik Lausten-Thomsen; Hans Ole Madsen; Therese Risom Vestergaard; Henrik Hjalgrim; Jacob Nersting; Kjeld Schmiegelow

doi:10.1182/blood-2010-05-282764

Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates

Ulrik Lausten-Thomsen, Hans Ole Madsen, Therese Risom Vestergaard, Henrik Hjalgrim, Jacob Nersting, Kjeld Schmiegelow

59 Citations (Scopus)

Abstract

t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. To explore the prevalence of ETV6-RUNX1-positive cells in healthy neonates, mononuclear cells from 1417 umbilical cord blood samples were isolated within 24 hours from birth and subsequently screened for ETV6-RUNX1 transcripts using a highly sensitive real-time reverse transcription polymerase chain reaction assay. In first-run polymerase chain reaction, 14 samples were positive at levels below 10(-5), of which specific hybridization reflecting the relevant genetic region was positive in 9 cases. Repeated analyses using stored mRNA and flowcytometric sorting of a CD19(+), CD8(+), and CD19(-)/CD8(-) subpopulations from cryopreserved mononuclear cells from the same cord blood samples (mean sorted: 18 × 10(6) cells) revealed no positive findings, which demonstrates that the level and/or frequency of ETV6-RUNX1-positive cells is markedly lower than suggested in previous studies.

Original language	English
Journal	Blood
Volume	117
Issue number	1
Pages (from-to)	186-9
Number of pages	4
ISSN	0006-4971
DOIs	https://doi.org/10.1182/blood-2010-05-282764
Publication status	Published - 6 Jan 2011

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@article{df8da2684fdd488db21128ae7b5fb23c,

title = "Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates",

abstract = "t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. To explore the prevalence of ETV6-RUNX1-positive cells in healthy neonates, mononuclear cells from 1417 umbilical cord blood samples were isolated within 24 hours from birth and subsequently screened for ETV6-RUNX1 transcripts using a highly sensitive real-time reverse transcription polymerase chain reaction assay. In first-run polymerase chain reaction, 14 samples were positive at levels below 10(-5), of which specific hybridization reflecting the relevant genetic region was positive in 9 cases. Repeated analyses using stored mRNA and flowcytometric sorting of a CD19(+), CD8(+), and CD19(-)/CD8(-) subpopulations from cryopreserved mononuclear cells from the same cord blood samples (mean sorted: 18 × 10(6) cells) revealed no positive findings, which demonstrates that the level and/or frequency of ETV6-RUNX1-positive cells is markedly lower than suggested in previous studies.",

author = "Ulrik Lausten-Thomsen and Madsen, {Hans Ole} and Vestergaard, {Therese Risom} and Henrik Hjalgrim and Jacob Nersting and Kjeld Schmiegelow",

year = "2011",

month = jan,

day = "6",

doi = "10.1182/blood-2010-05-282764",

language = "English",

volume = "117",

pages = "186--9",

journal = "Blood",

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publisher = "American Society of Hematology",

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TY - JOUR

T1 - Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates

AU - Lausten-Thomsen, Ulrik

AU - Madsen, Hans Ole

AU - Vestergaard, Therese Risom

AU - Hjalgrim, Henrik

AU - Nersting, Jacob

AU - Schmiegelow, Kjeld

PY - 2011/1/6

Y1 - 2011/1/6

N2 - t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. To explore the prevalence of ETV6-RUNX1-positive cells in healthy neonates, mononuclear cells from 1417 umbilical cord blood samples were isolated within 24 hours from birth and subsequently screened for ETV6-RUNX1 transcripts using a highly sensitive real-time reverse transcription polymerase chain reaction assay. In first-run polymerase chain reaction, 14 samples were positive at levels below 10(-5), of which specific hybridization reflecting the relevant genetic region was positive in 9 cases. Repeated analyses using stored mRNA and flowcytometric sorting of a CD19(+), CD8(+), and CD19(-)/CD8(-) subpopulations from cryopreserved mononuclear cells from the same cord blood samples (mean sorted: 18 × 10(6) cells) revealed no positive findings, which demonstrates that the level and/or frequency of ETV6-RUNX1-positive cells is markedly lower than suggested in previous studies.

AB - t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. To explore the prevalence of ETV6-RUNX1-positive cells in healthy neonates, mononuclear cells from 1417 umbilical cord blood samples were isolated within 24 hours from birth and subsequently screened for ETV6-RUNX1 transcripts using a highly sensitive real-time reverse transcription polymerase chain reaction assay. In first-run polymerase chain reaction, 14 samples were positive at levels below 10(-5), of which specific hybridization reflecting the relevant genetic region was positive in 9 cases. Repeated analyses using stored mRNA and flowcytometric sorting of a CD19(+), CD8(+), and CD19(-)/CD8(-) subpopulations from cryopreserved mononuclear cells from the same cord blood samples (mean sorted: 18 × 10(6) cells) revealed no positive findings, which demonstrates that the level and/or frequency of ETV6-RUNX1-positive cells is markedly lower than suggested in previous studies.

U2 - 10.1182/blood-2010-05-282764

DO - 10.1182/blood-2010-05-282764

M3 - Journal article

SN - 0006-4971

VL - 117

SP - 186

EP - 189

JO - Blood

JF - Blood

IS - 1

ER -

Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates

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