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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.

Diagnostic Utility of IGF2BP1 and Its Targets as Potential Biomarkers in ETV6-RUNX1 Positive B-Cell Acute Lymphoblastic Leukemia