Related Experiment Video

Updated: Jun 10, 2026

Transcriptional Analysis by Nascent RNA FISH of In Vivo Trophoblast Giant Cells or In Vitro Short-term Cultures of Ectoplacental Cone Explants
08:26

Transcriptional Analysis by Nascent RNA FISH of In Vivo Trophoblast Giant Cells or In Vitro Short-term Cultures of Ectoplacental Cone Explants

Published on: August 31, 2016

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

Ulrik Lausten-Thomsen1, Hans Ole Madsen, Therese Risom Vestergaard

  • 1Department of Paediatrics, The University Hospital Rigshospitalet, Copenhagen, Denmark.

Blood
|August 18, 2010
PubMed

Insights

The ETV6-RUNX1 fusion gene, linked to childhood leukemia, was investigated in 1417 neonates. Researchers found significantly lower levels of ETV6-RUNX1-positive cells at birth than previously suggested.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • The ETV6-RUNX1 fusion gene, resulting from the t(12;21)(p13;q22) chromosomal translocation, is the most frequent genetic abnormality in childhood acute lymphoblastic leukemia (ALL).
  • Previous research suggested prenatal initiation and high levels of ETV6-RUNX1-positive cells at birth, potentially detectable via Guthrie cards.

Purpose of the Study:

  • To investigate the actual prevalence and levels of ETV6-RUNX1-positive cells in healthy neonates at birth.
  • To re-evaluate the frequency of ETV6-RUNX1 transcripts in umbilical cord blood compared to prior estimates.

Main Methods:

  • Isolation of mononuclear cells from 1417 umbilical cord blood samples collected within 24 hours of birth.
  • Screening for ETV6-RUNX1 transcripts using a sensitive real-time reverse transcription polymerase chain reaction (RT-PCR) assay.
  • Confirmatory analyses including specific hybridization, mRNA re-analysis, and flow cytometric sorting of cell subpopulations.

Main Results:

  • Initial RT-PCR detected ETV6-RUNX1 transcripts in 14 samples (below 10^-5), with specific hybridization confirming 9 cases.
  • Subsequent rigorous analyses, including re-testing stored mRNA and flow cytometry on sorted cell populations (mean 18x10^6 cells), yielded no positive findings.
  • The study indicates that the level and/or frequency of ETV6-RUNX1-positive cells at birth is substantially lower than previously reported.

Conclusions:

  • The prevalence of ETV6-RUNX1-positive cells in healthy neonates is markedly lower than suggested by earlier studies.
  • This finding necessitates a re-evaluation of the role and detection methods for ETV6-RUNX1 in early leukemogenesis.

More Related Videos

Direct Induction of Hemogenic Endothelium and Blood by Overexpression of Transcription Factors in Human Pluripotent Stem Cells08:14

Direct Induction of Hemogenic Endothelium and Blood by Overexpression of Transcription Factors in Human Pluripotent Stem Cells

Published on: December 3, 2015

Chromosome Preparation From Cultured Cells07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Related Concept Videos

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...