Indian J Hematol Blood Transfus, 32(2), 154–161
June, 2016

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

Aydin, Cigdem, Cetin, Zafer, Manguoglu, Ayse Esra, Tayfun, Funda, Clark, Ozden Altiok, Kupesiz, Alphan, Akkaya, Bahar, Karauzum, Sibel Berker

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.

Digital object identifier (DOI): 10.1007/s12288-015-0557-7

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