PMID- 23190578 OWN - NLM STAT- MEDLINE DCOM- 20140127 LR - 20130716 IS - 1751-553X (Electronic) IS - 1751-5521 (Linking) VI - 35 IP - 4 DP - 2013 Aug TI - Interphase-FISH screening for eight common rearrangements in pediatric B-cell precursor acute lymphoblastic leukemia. PG - 406-15 LID - 10.1111/ijlh.12031 [doi] AB - INTRODUCTION: This is the first pilot study to screen multiple common genetic aberrations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). METHODS: Thirty-two children with BCP-ALL were investigated for chromosomal rearrangements using interphase fluorescence in situ hybridization (FISH). Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes. RESULTS: ETV6-RUNX1 was the most frequent translocation detected in 11 children (34.4%). Two patients with BCR-ABL1 (6.3%) and one with TCF3-PBX1 (3.1%) translocations were also observed. Using break-apart probes, 11 children (34.4%) had a positive FISH result for ETV6, two patients for IGH@ (6.3%), one patient for MLL (3.1%), and one patient for PAX5 rearrangements (3.1%). All patients with the ETV6-RUNX1 fusion were also identified by split signals for ETV6. Other abnormalities, including extra copies and deletion of genes, were observed within the range of 3.1-34.4%. Cytogenetics analysis showed a single case each of BCR-ABL1 fusion, MLL, and IGH@ rearrangements (3.1% each). ETV6-RUNX1 fusion and ETV6 split-apart rearrangements were not visible by cytogenetics. Likewise, one each of cases with TCF3-PBX1 fusion and with PAX5 split signal seen by FISH was not visible by cytogenetics. CONCLUSION: By using 8 FISH probes in conjunction cytogenetics for the detection of common aberrations, interphase FISH enhanced the detection of chromosomal rearrangements in children with BCP-ALL. CI - (c) 2012 John Wiley & Sons Ltd. FAU - Hutspardol, S AU - Hutspardol S AD - Department of Pediatrics, Srinakharinwirot University, Nakorn Nayok, Thailand. FAU - Pakakasama, S AU - Pakakasama S FAU - Kanta, K AU - Kanta K FAU - Nuntakarn, L AU - Nuntakarn L FAU - Anurathapan, U AU - Anurathapan U FAU - Sirachainan, N AU - Sirachainan N FAU - Songdej, D AU - Songdej D FAU - Sawangpanich, R AU - Sawangpanich R FAU - Tiyasirichokchai, R AU - Tiyasirichokchai R FAU - Rerkamnuaychoke, B AU - Rerkamnuaychoke B FAU - Hongeng, S AU - Hongeng S LA - eng PT - Journal Article DEP - 20121128 PL - England TA - Int J Lab Hematol JT - International journal of laboratory hematology JID - 101300213 RN - 0 (Oncogene Proteins, Fusion) SB - IM MH - Acute Disease MH - Adolescent MH - B-Lymphocytes/metabolism/*pathology MH - Child MH - Child, Preschool MH - Female MH - Genetic Testing MH - Humans MH - In Situ Hybridization, Fluorescence/*statistics & numerical data MH - Infant MH - Interphase/genetics MH - Karyotyping MH - Male MH - Oncogene Proteins, Fusion/*genetics/metabolism MH - Pilot Projects MH - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/*genetics/pathology MH - *Translocation, Genetic OTO - NOTNLM OT - ALL OT - B-cells OT - FISH EDAT- 2012/11/30 06:00 MHDA- 2014/01/28 06:00 CRDT- 2012/11/30 06:00 PHST- 2011/12/27 00:00 [received] PHST- 2012/09/28 00:00 [accepted] PHST- 2012/11/30 06:00 [entrez] PHST- 2012/11/30 06:00 [pubmed] PHST- 2014/01/28 06:00 [medline] AID - 10.1111/ijlh.12031 [doi] PST - ppublish SO - Int J Lab Hematol. 2013 Aug;35(4):406-15. doi: 10.1111/ijlh.12031. Epub 2012 Nov 28.