NUTM1 is a recurrent fusion gene partner in B-cell precursor acute lymphoblastic leukemia associated with increased expression of genes on chromosome band 10p12.31-12.2

NUTM1 is a recurrent fusion gene partner in B-cell precursor acute lymphoblastic leukemia associated with increased expression of genes on chromosome band 10p12.31-12.2For 20-25% of patients with pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL), the driving cytogenetic aberration is unknown.Identification of the primary lesion could provide better risk stratification and even identify possible treatment options.We therefore aimed to find novel recurrent genetic aberrations in BCP-ALL cases.We identified an in-frame SLC12A6-NUTM1 fusion, resulting in expression of 3' exons of NUTM1, and six additional NUTM1-rearranged fusion cases.These NUTM1-rearranged cases were associated with high expression of a cluster of genes on chromosome band 10p12.31-12.2,including the BMI1 gene.Our data point to NUTM1 fusions as a new entity of BCP-ALL negative for known genetic abnormalities.Pediatric BCP-ALL consists of many cytogenetic subtypes, each with a different prognosis. 1ETV6-RUNX1 fusions, high hyperdiploid, and TCF3-PBX1 fusions have a favorable prognosis, while BCR-ABL1 fusions and KMT2A/MLL-rearrangements have a poor prognosis.