title: A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.
abstract: The genetic hallmark of Burkitt lymphoma (BL) is the t(8;14)(q24;q32) and its variants leading to activation of the MYC oncogene. It is a matter of debate whether true BL without MYC translocation exists. Here, we identified 59 lymphomas concordantly called BL by 2 gene expression classifiers among 753 B-cell lymphomas. Only 2 (3%) of these 59 molecular BL lacked a MYC translocation, which both shared a peculiar pattern of chromosome 11q aberration characterized by interstitial gains including 11q23.2-q23.3 and telomeric losses of 11q24.1-qter. We extended our analysis to 17 MYC-negative high-grade B-cell lymphomas with a similar 11q aberration and showed this aberration to be recurrently associated with morphologic and clinical features of BL. The minimal region of gain was defined by high-level amplifications in 11q23.3 and associated with overexpression of genes including PAFAH1B2 on a transcriptional and protein level. The recurrent region of loss contained a focal homozygous deletion in 11q24.2-q24.3 including the ETS1 gene, which was shown to be mutated in 4 of 16 investigated cases. These findings indicate the existence of a molecularly distinct subset of B-cell lymphomas reminiscent of BL, which is characterized by deregulation of genes in 11q.
authors.affiliation: Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel/Christian-Albrechts University, Kiel, Germany;
authors.forename: Itziar
authors.initials: I
authors.lastname: Salaverria
authors.forename: Idoia
authors.initials: I
authors.lastname: Martin-Guerrero
authors.forename: Rabea
authors.initials: R
authors.lastname: Wagener
authors.forename: Markus
authors.initials: M
authors.lastname: Kreuz
authors.forename: Christian W
authors.initials: CW
authors.lastname: Kohler
authors.forename: Julia
authors.initials: J
authors.lastname: Richter
authors.forename: Barbara
authors.initials: B
authors.lastname: Pienkowska-Grela
authors.forename: Patrick
authors.initials: P
authors.lastname: Adam
authors.forename: Birgit
authors.initials: B
authors.lastname: Burkhardt
authors.forename: Alexander
authors.initials: A
authors.lastname: Claviez
authors.forename: Christine
authors.initials: C
authors.lastname: Damm-Welk
authors.forename: Hans G
authors.initials: HG
authors.lastname: Drexler
authors.forename: Michael
authors.initials: M
authors.lastname: Hummel
authors.forename: Elaine S
authors.initials: ES
authors.lastname: Jaffe
authors.forename: Ralf
authors.initials: R
authors.lastname: Küppers
authors.forename: Christine
authors.initials: C
authors.lastname: Lefebvre
authors.forename: Jasmin
authors.initials: J
authors.lastname: Lisfeld
authors.forename: Markus
authors.initials: M
authors.lastname: Löffler
authors.forename: Roderick A F
authors.initials: RA
authors.lastname: Macleod
authors.forename: Inga
authors.initials: I
authors.lastname: Nagel
authors.forename: Ilske
authors.initials: I
authors.lastname: Oschlies
authors.forename: Maciej
authors.initials: M
authors.lastname: Rosolowski
authors.forename: Robert B
authors.initials: RB
authors.lastname: Russell
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Rymkiewicz
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Matthias
authors.initials: M
authors.lastname: Schlesner
authors.forename: René
authors.initials: R
authors.lastname: Scholtysik
authors.forename: Carsten
authors.initials: C
authors.lastname: Schwaenen
authors.forename: Rainer
authors.initials: R
authors.lastname: Spang
authors.forename: Monika
authors.initials: M
authors.lastname: Szczepanowski
authors.forename: Lorenz
authors.initials: L
authors.lastname: Trümper
authors.forename: Inga
authors.initials: I
authors.lastname: Vater
authors.forename: Swen
authors.initials: S
authors.lastname: Wessendorf
authors.forename: Wolfram
authors.initials: W
authors.lastname: Klapper
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001402:B-Lymphocytes / Q000502:physiology*; D002051:Burkitt Lymphoma / Q000145:classification* / Q000235:genetics* / Q000473:pathology; D002460:Cell Line; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002883:Chromosomes, Human, Pair 14; D002898:Chromosomes, Human, Pair 8; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D016259:Genes, myc / Q000235:genetics*; D006801:Humans; D008297:Male; D060787:Neoplasm Grading; D012008:Recurrence; D014178:Translocation, Genetic / Q000235:genetics*; D055815:Young Adult