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Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia

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Indian Journal of Hematology and Blood Transfusion Aims and scope Submit manuscript

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.

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Acknowledgments

This study was supported by the Akdeniz University Scientific Research Management Foundation.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Nursing, Bucak School of Health, Mehmet Akif Ersoy University, Burdur, Turkey

    Cigdem Aydin

  2. Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey

    Zafer Cetin

  3. Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Ayse Esra Manguoglu & Sibel Berker Karauzum

  4. Department of Pediatric Hematology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Funda Tayfun & Alphan Kupesiz

  5. Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Ozden Altiok Clark

  6. Department of Pathology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Bahar Akkaya

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  1. Cigdem Aydin
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  2. Zafer Cetin
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  3. Ayse Esra Manguoglu
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Correspondence to Sibel Berker Karauzum.

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Aydin, C., Cetin, Z., Manguoglu, A.E. et al. Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia. Indian J Hematol Blood Transfus 32, 154–161 (2016). https://doi.org/10.1007/s12288-015-0557-7

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  • DOI: https://doi.org/10.1007/s12288-015-0557-7

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