PMID- 24740533 OWN - NLM STAT- MEDLINE DCOM- 20141118 LR - 20140721 IS - 1545-5017 (Electronic) IS - 1545-5009 (Linking) VI - 61 IP - 9 DP - 2014 Sep TI - False positivity of ETV6/RUNX1 detected by FISH in healthy newborns and adults. PG - 1704-6 LID - 10.1002/pbc.25050 [doi] AB - 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). CI - (c) 2014 Wiley Periodicals, Inc. FAU - Kusk, Maria Schioldan AU - Kusk MS AD - Paediatrics and Adolescent Medicine, The University Hospital Rigshospitalet, Copenhagen, Denmark. FAU - Lausten-Thomsen, Ulrik AU - Lausten-Thomsen U FAU - Andersen, Mette Klarskov AU - Andersen MK FAU - Olsen, Marianne AU - Olsen M FAU - Hjalgrim, Henrik AU - Hjalgrim H FAU - Schmiegelow, Kjeld AU - Schmiegelow K LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140417 PL - United States TA - Pediatr Blood Cancer JT - Pediatric blood & cancer JID - 101186624 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TEL-AML1 fusion protein) SB - IM MH - Adult MH - Core Binding Factor Alpha 2 Subunit/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant, Newborn MH - Oncogene Proteins, Fusion/*genetics MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - Prognosis MH - Translocation, Genetic/*genetics OTO - NOTNLM OT - acute lymphoblastic leukemia OT - etiology OT - fluorescence in situ hybridization OT - natural history OT - specificity EDAT- 2014/04/18 06:00 MHDA- 2014/11/19 06:00 CRDT- 2014/04/18 06:00 PHST- 2013/04/11 00:00 [received] PHST- 2014/03/07 00:00 [accepted] PHST- 2014/04/18 06:00 [entrez] PHST- 2014/04/18 06:00 [pubmed] PHST- 2014/11/19 06:00 [medline] AID - 10.1002/pbc.25050 [doi] PST - ppublish SO - Pediatr Blood Cancer. 2014 Sep;61(9):1704-6. doi: 10.1002/pbc.25050. Epub 2014 Apr 17.