• Latha Sneha Magatha, Julius Xavier Scott, Gayathri Subramaniam, Thirugnanasambandan Chandrasekaran, Solomon Franklin Durairaj Paul, and Teena Koshy.
• Division of Pediatric Hemato-oncology, Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
• Med Princ Pract. 2021 Jan 1; 30 (6): 563-570.

ObjectiveThe purpose of this study was to evaluate the cytogenetic and fluorescent in situ hybridization (FISH) profile in children with acute lymphoblastic leukemia (ALL), referred to a university hospital in a 5-year 6-month period.Subjects And MethodsCytogenetic analysis of the bone marrow aspirate specimens of 91 patients was performed by standard Giemsa (G)-banding and interphase FISH (iFISH).ResultsThe frequency of chromosomal abnormalities detected by G-banding was 29.5%, and the frequency of nonrandom abnormalities with independent prognostic significance identified by iFISH was 46.4%. The abnormality with the highest frequency was gain of RUNX1 (n = 18, 21.4%), followed by ETV6/RUNX1 fusion (n = 7, 8.3%), and gain of KMT2A (n = 6, 7.1%). Additionally, rarely reported gains of ETV6, PBX1, and ABL1 were observed at a frequency of 6% (n = 5), and the deletion of ETV6 and TCF3 was seen at a frequency of 3.6% (n = 3) and 2.3% (n = 2), respectively. A 10-year old with intrachromosomal amplification of chromosome 21 was also observed.ConclusionsThis study strengthens and widens the current knowledge of the cytogenetic landscape of pediatric ALL.© 2021 The Author(s) Published by S. Karger AG, Basel.

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