Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Child

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• 作者：Cigdem Aydin ; Zafer Cetin…
• 关键词：Acute lymphoblastic leukemia ; ETV6 ; RUNX1 ; t(12 ; 21) translocation ; FISH
• 刊名：Indian Journal of Hematology and Blood Transfusion
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：32
• 期：2
• 页码：154-161
• 全文大小：375 KB
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• 作者单位：Cigdem Aydin (1)
  Zafer Cetin (2)
  Ayse Esra Manguoglu (3)
  Funda Tayfun (4)
  Ozden Altiok Clark (5)
  Alphan Kupesiz (4)
  Bahar Akkaya (6)
  Sibel Berker Karauzum (3)
  
  1. Department of Nursing, Bucak School of Health, Mehmet Akif Ersoy University, Burdur, Turkey
  2. Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey
  3. Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
  4. Department of Pediatric Hematology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
  5. Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
  6. Department of Pathology, Faculty of Medicine, Akdeniz University, Antalya, Turkey
  
• 刊物主题：Hematology; Oncology; Blood Transfusion Medicine; Human Genetics;
• 出版者：Springer India
• ISSN：0974-0449

文摘

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.