Incidence of common preleukemic gene fusions in umbilical cord blood in Slovak population

PLoS One. 2014 Mar 12;9(3):e91116. doi: 10.1371/journal.pone.0091116. eCollection 2014.

Abstract

The first event in origination of many childhood leukemias is likely the presence of preleukemic clone (transformed hematopoietic stem/progenitor cells with preleukemic gene fusions (PGF)) in newborn. Thus, the screening of umbilical cord blood (UCB) for PGF may be of high importance for developing strategies for childhood leukemia prevention and treatment. However, the data on incidence of PGF in UCB are contradictive. We have compared multiplex polymerase chain reaction (PCR) and real-time quantitative PCR (RT qPCR) in neonates from Slovak National Birth Cohort. According to multiplex PCR, all 135 screened samples were negative for the most frequent PGF of B-lineage acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). To explore the prevalence of prognostically important TEL-AML1, MLL-AF4 and BCR-ABL (p190), 200 UCB were screened using RT qPCR. The initial screening showed an unexpectedly high incidence of studied PGF. The validation of selected samples in two laboratories confirmed approximately ¼ of UCB positive, resulting in ∼4% incidence of TEL-AML1, ∼6.25% incidence of BCR-ABL1 p190, and ∼0.75% frequency of MLL-AF4. In most cases, the PGF presented at very low level, about 1-5 copies per 105 cells. We hypothesize that low PGF numbers reflect their relatively late origin and are likely to be eliminated in further development while higher number of PGF reflects earlier origination and may represent higher risk for leukemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Fetal Blood / metabolism*
  • Fusion Proteins, bcr-abl / genetics
  • Gene Fusion / genetics*
  • Humans
  • Leukemia / diagnosis
  • Leukemia / genetics*
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / genetics
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Oncogene Proteins, Fusion / genetics
  • Precancerous Conditions / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Prognosis
  • Real-Time Polymerase Chain Reaction
  • Slovakia

Substances

  • Core Binding Factor Alpha 2 Subunit
  • MLL-AF4 fusion protein, human
  • Oncogene Proteins, Fusion
  • TEL-AML1 fusion protein
  • Myeloid-Lymphoid Leukemia Protein
  • Fusion Proteins, bcr-abl

Grants and funding

This study was supported by the Slovak Research and Development Agency (APVV 0669-10); the National Scholarship Program of the Slovak Republic (SAIA); the Joint Research Project “Cancer diagnostics and assesment of cancer risks” between Slovak Academy of Sciences (SAS) and Russian Academy of Medical Sciences (RAMS), and the VEGA Grant Agency (2/0150/11) of the Slovak Republic. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.