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Volume 10 Issue 1 (January- June) 2021

Original Articles

Detection of Genetic Aberrationst(12;21)/ETV6-RUNX1, t(1;19)/TCF3-PBX1, t(4;11)/MLL-AF4and Their Prognostic Significance in Pediatric Acute Lymphoblastic Leukemia by Fluorescence In Situ Hybridisation
Dr. Yadav V, Dr. Nangia A, Dr. Chandra J, Dr. Kumar R

Purpose: To find the frequency of any of these t(12;21)/ETV6-RUNX1, t(1;19)/TCF3-PBX1, t(4;11)/MLL-AF4 in pediatric Acute Lymphoblastic Leukemia by Fluorescence-In-Situ-Hybridization (FISH) and their prognostic implications. Multiple studies have been performed across the world for its detection through various techniques.But there is a paucity of literature available for detecting this cytogenetic aberration by FISH technique in India and so as to correlate the association of these genetic translocations with clinicohaematological parameters. Methods: A hospital- based descriptive observational study was performed in forty-five newly diagnosed paediatric ALL cases after bilingual written informed consent and detailed history. 1ml sample(peripheral blood/bone marrow) of the cases was collected in a heparinised vial(before the commencement of induction therapy)and was subjected to FISH analysis.Vysis LSI dual colour dual fusion translocation probe for ETV6-RUNX1,TCF3-PBX1 and Vysis split signal apart probe for MLL rearrangements were used and the signals were interpreted in interphase nuclei. Result: The study showed that four out of the forty five paediatric ALL cases (8.8%) showed ETV6-RUNX1 fusion signals with classic 2F1R1G pattern. 75% of cases had hepatosplenomegaly, lymphadenopathy (50%),high total leucocyte count and high tumorburden. All the four positive cases were CALLA positive B cell ALLimmunophenotypically and went into remission and was found to be disease free for 6 months follow up in the time periodof study.A single case (2.2%) of MLL split signal detected was also a female child had hepatosplenomegaly and lymphadenopathy. This case had anaemia, thrombocytopenia and blast percentage was more than 50%.Immunophenotypically it was a case of Pro B cell ALL. The typical pattern of 1G1R1F was obtained. This child had succumbed to death and associated with poor prognosis. No comment can be made regarding TCF3-PBX1 fusion as no case was found to be positive. Conclusion: The study find a lower percentage (8.8%) of ETV6-RUNX1 fusion protein in Indian paediatric leukemic patients compared to Western literature. No statistical significance was established between the translocations and clinicohematological parameters. Thus,bigger sample size should be more representative for a definitive conclusion. The study couldsuggest incorporating FISH as a mandatory diagnostic tool in paediatric ALL workup for prognostic implications and risk stratifications.

 
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