title: Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas.
abstract: Pediatric follicular lymphoma is a rare disease that differs genetically and clinically from its adult counterpart. With the exception of pediatric follicular lymphoma with IRF4-translocation, the genetic events associated with these lymphomas have not yet been defined. We applied array-comparative genomic hybridization and molecular inversion probe assay analyses to formalin-fixed paraffin-embedded tissues from 18 patients aged 18 years and under with IRF4 translocation negative follicular lymphoma. All evaluable cases lacked t(14;18). Only 6 of 16 evaluable cases displayed chromosomal imbalances with gains or amplifications of 6pter-p24.3 (including IRF4) and deletion and copy number neutral-loss of heterozygosity in 1p36 (including TNFRSF14) being most frequent. Sequencing of TNFRSF14 located in the minimal region of loss in 1p36.32 showed nine mutations in 7 cases from our series. Two subsets of pediatric follicular lymphoma were delineated according to the presence of molecular alterations, one with genomic aberrations associated with higher grade and/or diffuse large B-cell lymphoma component and more widespread disease, and another one lacking genetic alterations associated with more limited disease.
authors: Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany. imartinguerrero@medgen.uni-kiel.de
authors: Idoia
authors: I
authors: Martin-Guerrero
authors: Itziar
authors: I
authors: Salaverria
authors: Birgit
authors: B
authors: Burkhardt
authors: Monika
authors: M
authors: Szczepanowski
authors: Michael
authors: M
authors: Baudis
authors: Susanne
authors: S
authors: Bens
authors: Laurence
authors: L
authors: de Leval
authors: Africa
authors: A
authors: Garcia-Orad
authors: Heike
authors: H
authors: Horn
authors: Jasmin
authors: J
authors: Lisfeld
authors: Shoji
authors: S
authors: Pellissery
authors: Wolfram
authors: W
authors: Klapper
authors: Ilske
authors: I
authors: Oschlies
authors: Reiner
authors: R
authors: Siebert
mesh_terms: D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D019656:Loss of Heterozygosity / Q000235:genetics*; D008224:Lymphoma, Follicular / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D053240:Receptors, Tumor Necrosis Factor, Member 14 / Q000235:genetics*; D012008:Recurrence; D014178:Translocation, Genetic / Q000235:genetics*; D000099218:Interferon Regulatory Factor-4
chemical_list: D050835:Interferon Regulatory Factors; D053240:Receptors, Tumor Necrosis Factor, Member 14; D000099218:Interferon Regulatory Factor-4; C506028:TNFRSF14 protein, human