title: Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia.
abstract: Childhood acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia. Specifically, ALL is a malignant disorder of the lymphoid progenitor cells, with a peak incidence among children aged 2-5 years. The t(12;21)(p13;q22) translocation occurs in 25 % of childhood B cell precursor ALL. In this study, bone marrow samples were obtained from 165 patients with childhood ALL. We analyzed the t(12;21) translocation and other related abnormalities using the fluorescent in situ hybridization (FISH) technique with the ETV6(TEL)/RUNX1(AML1) ES dual color translocation probe. Conventional cytogenetic analyses were also performed. ETV6 and RUNX1 related chromosomal abnormalities were found in 42 (25.5 %) of the 165 patients with childhood ALL. Among these 42 patients, structural changes were detected in 33 (78.6 %) and numerical abnormalities in 9 (21.4 %). The frequency of FISH abnormalities in pediatric ALL cases were as follows: 8.5 % for t(12;21)(p13;q22) ETV6/RUNX1 fusion, 6.0 % for RUNX1 amplification, 3.0 % for tetrasomy/trisomy 21, 1.8 % for ETV6 deletion, 1.21 % for ETV6 deletion with RUNX1 amplification, 1.21 % for ETV6 amplification with RUNX1 amplification, 0.6 % for polyploidy, 0.6 % for RUNX1 deletion, and 0.6 % for diminished ETV6 signal. The most common structural abnormality was the t(12;21) translocation, followed by RUNX1 amplification and ETV6 deletion, while the most commonly observed numerical abnormality was trisomy 21.
authors.affiliation: Department of Nursing, Bucak School of Health, Mehmet Akif Ersoy University, Burdur, Turkey.
authors.forename: Cigdem
authors.initials: C
authors.lastname: Aydin
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Ayse Esra
authors.initials: AE
authors.lastname: Manguoglu
authors.affiliation: Department of Pediatric Hematology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Funda
authors.initials: F
authors.lastname: Tayfun
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Ozden Altiok
authors.initials: OA
authors.lastname: Clark
authors.affiliation: Department of Pediatric Hematology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Alphan
authors.initials: A
authors.lastname: Kupesiz
authors.affiliation: Department of Pathology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Bahar
authors.initials: B
authors.lastname: Akkaya
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Sibel Berker
authors.initials: SB
authors.lastname: Karauzum
keywords: Acute lymphoblastic leukemia; ETV6; FISH; RUNX1; t(12;21) translocation