Abstract
Around 85% of childhood Acute Lymphoblastic Leukemia (ALL) are of B-cell origin and characterized by the presence of different translocations including BCR-ABL1, ETV6-RUNX1, E2A-PBX1, and MLL fusion proteins. The current clinical investigations used to identify ETV6-RUNX1 translocation include FISH and fusion transcript specific PCR. In the current study we assessed the utility of IGF2BP1, an oncofetal RNA binding protein, that is over expressed specifically in ETV6-RUNX1 translocation positive B-ALL to be used as a diagnostic marker in the clinic. Further, public transcriptomic and Crosslinked Immunoprecipitation (CLIP) datasets were analyzed to identify the putative targets of IGF2BP1. We also studied the utility of using the mRNA expression of two such targets, MYC and EGFL7 as potential diagnostic markers separately or in conjunction with IGF2BP1. We observed that the expression of IGF2BP1 alone measured by RT-qPCR is highly sensitive and specific to be used as a potential biomarker for the presence of ETV6-RUNX1 translocation in future.
Highlights
B-cell acute lymphoblastic leukemia (B-Acute Lymphoblastic Leukemia (ALL)) is the commonest childhood cancer in the pediatric population which originates from the propagation of cytogenetically altered and molecularly abnormal B-lymphocyte progenitor cells [1]
We have demonstrated the utility of IGF2BP1 expression in B-cell acute lymphoblastic leukemia (B-ALL) patient bone marrow samples to diagnose the presence of the ETV6-RUNX1 translocation
A total of 261 pediatric B-ALL patients were registered in the BRAIRCH OPD, AIIMS from March 2016 to August 2019
Summary
B-cell acute lymphoblastic leukemia (B-ALL) is the commonest childhood cancer in the pediatric population which originates from the propagation of cytogenetically altered and molecularly abnormal B-lymphocyte progenitor cells [1]. About 50% of B-ALL tumors exhibit genetic rearrangements among which translocations are most common [3]. A set of sentinel genetic lesions, mostly BCR/ABL1, ETV6/RUNX1, E2A/PBX1, and MLL rearrangements, have been well recognized in B-ALL. From Western literature, we see that ETV6/RUNX1 is the commonest translocation seen in B-ALL which decreases with increasing age. The frequency of BCR/ABL1 is very low in childhood ALL [4]. ETV6-RUNX1 is present at a lower frequency while BCR-ABL1 shows a higher prevalence [5,6,7,8,9]
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