title: An increased frequency of 13q deletions detected by fluorescence in situ hybridization and its impact on survival in children and adolescents with Burkitt lymphoma: results from the Children's Oncology Group study CCG-5961.
abstract: Burkitt lymphoma (BL), an aggressive B-cell malignancy, is often curable with short intensive treatment regiments. Nearly all BLs contain rearrangements of the MYC/8q24 region; however, recent cytogenetic studies suggest that certain secondary chromosomal aberrations in BL correlate with an adverse prognosis. In this multi-centre study, the frequency and impact on clinical outcome of del(13q) and +7 in addition to MYC rearrangements as detected by fluorescence in situ hybridization (FISH) in children and adolescents with intermediate and high-risk BL registered on Children's Cancer Group study CCG-5961 were investigated. Analysis with 13q14.3 and 13q34 loci specific probes demonstrated deletions of 13q in 38/90 (42%) cases. The loss of either 13q14.3 or 13q34 alone occurred in 14% and 8% respectively, while 20% exhibited loss of both regions. Gain of chromosome 7 was observed in 7/68 (10%) cases and MYC rearrangements were detected in 84/90 (93%). Prognostic analysis controlling for known risk factors demonstrated that patients exhibiting loss of 13q, particularly 13q14.3, had a significant decrease in 5-year overall survival (77% vs. 95%, P = 0.012). These observations indicate that del(13q) occurs in childhood BL at frequencies higher than previously detected by classical cytogenetics and underscores the importance of molecular cytogenetics in risk stratification.
authors.affiliation: Human Genetics Laboratories, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE 68198, USA.
authors.forename: Marilu
authors.initials: M
authors.lastname: Nelson
authors.forename: Sherrie L
authors.initials: SL
authors.lastname: Perkins
authors.forename: Bhavana J
authors.initials: BJ
authors.lastname: Dave
authors.forename: Peter F
authors.initials: PF
authors.lastname: Coccia
authors.forename: Julia A
authors.initials: JA
authors.lastname: Bridge
authors.forename: Elizabeth R
authors.initials: ER
authors.lastname: Lyden
authors.forename: Nyla A
authors.initials: NA
authors.lastname: Heerema
authors.forename: Mark A
authors.initials: MA
authors.lastname: Lones
authors.forename: Lauren
authors.initials: L
authors.lastname: Harrison
authors.forename: Mitchell S
authors.initials: MS
authors.lastname: Cairo
authors.forename: Warren G
authors.initials: WG
authors.lastname: Sanger
mesh_terms: D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002051:Burkitt Lymphoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004812:Epidemiologic Methods; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009367:Neoplasm Staging; D011379:Prognosis; D016896:Treatment Outcome; D055815:Young Adult