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False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults
Author(s) -
Kusk Maria Schioldan,
LaustenThomsen Ulrik,
Andersen Mette Klarskov,
Olsen Marianne,
Hjalgrim Henrik,
Schmiegelow Kjeld
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25050
Subject(s) - etv6 , chromosomal translocation , medicine , cord blood , fluorescence in situ hybridization , fish <actinopterygii> , in situ hybridization , microbiology and biotechnology , biology , genetics , messenger rna , gene , fishery , chromosome
The leukemia‐associated ETV6‐RUNX1 ‐translocation frequently emerges prenatally. Reverse‐transcriptase PCR screening may indicate presence of ETV6‐RUNX1 transcripts in random cord blood samples. Subsequent cell enrichment validation finds significantly lower levels than validation applying fluorescence in situ hybridization (FISH) (<10 −5 vs. 10 −3 to 10 −4 ). Using three FISH probe sets, we screened 179,000 cells from ETV6‐RUNX1 ‐positive dilution series, healthy adults and random cord blood samples. The t(12;21) single fusion extra signal translocation probe and the ETV6 break apart probe gave false positive results mimicking ETV6‐RUNX1 ‐positive cell levels of 10 −3 . This questions the paradigm that 1% of newborns have ETV6‐RUNX1 ‐positive cells at levels of 10 −3 to 10 −4 . Pediatr Blood Cancer 2014;61:1704–1706. © 2014 Wiley Periodicals, Inc.