title: IGF2BP1: a novel IGH translocation partner in B acute lymphoblastic leukemia.
abstract: Acute lymphoblastic leukemia (ALL) is the most common form of childhood malignancy. Detecting and characterizing recurrent translocations is critical for ALL diagnosis and treatment. IGH (immunoglobulin heavy chain) rearrangements are relatively common in lymphoproliferative disorders, including ALL. Here we report a 16-year-old boy who was diagnosed with B acute lymphoblastic leukemia. Chromosome analysis showed a t(14;17)(q32;q21) with an additional copy of the derivative chromosome 14. IGH rearrangement was confirmed by concurrent FISH analysis. Chromosomal microarray analysis (CMA) showed the breakpoint at the 5 prime end of the IGF2BP1 gene located at 17q21.32. To the best of our knowledge, this is the first report of ALL with a 14;17 translocation resulting in an IGH-IGF2BP1 fusion; however, previous studies have implicated a role for up-regulation of IGF2BP1 in ALL.
authors.affiliation: Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA; Genetics Associates, Inc. Nashville, TN, USA.
authors.forename: Guangyu
authors.initials: G
authors.lastname: Gu
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Sederberg
authors.affiliation: Department of Pathology, Miller Children's Hospital, Long Beach, CA, USA.
authors.forename: Milton R
authors.initials: MR
authors.lastname: Drachenberg
authors.affiliation: Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA. Electronic address: Sarah.south@aruplab.com.
authors.forename: Sarah T
authors.initials: ST
authors.lastname: South
mesh_terms: D000293:Adolescent; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D050939:Gene Fusion; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D015448:Leukemia, B-Cell / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D011379:Prognosis; D016601:RNA-Binding Proteins / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C406144:IGF2BP1 protein, human; D007143:Immunoglobulin Heavy Chains; D016601:RNA-Binding Proteins
keywords: IGF2BP1; IGH partner; acute B lymphoblastic leukemia; t(14;17)(q32;q21)