title: Splenic marginal zone lymphomas are characterized by loss of interstitial regions of chromosome 7q, 7q31.32 and 7q36.2 that include the protection of telomere 1 (POT1) and sonic hedgehog (SHH) genes.
abstract: To further characterize the genotypic features of splenic (S) and nodal (N) marginal zone lymphomas (MZL) we compared eight SMZL and five NMZL by array-based comparative genomic hybridization (aCGH). Arbitrarily, aberrations were divided into major imbalances, defined as gains or losses involving five or more contiguous genetic loci, and minor imbalances, defined as those involving four or fewer loci. SMZL, but not NMZL, demonstrated major imbalances. These included deletions involving various lengths of 7q (three cases), and 14q23q24 (one case) and gains of 9p13p21 (one case), 13q21q33 (one case) and 16p13.1 (one case). Common minor imbalances in SMZL were: loss of sonic hedgehog gene (SHH) at 7q36.2 (four cases), loss of protection of telomere 1 gene (POT1) at 7q31.32 (three cases), and gain of glioma associated oncogene 1 (GLI1) at 12q13.2 (three cases). Common minor alterations in NMZL were: loss of the fas-associated via death domain gene (FADD) at 11q13.2 (three cases) and gain of GLI1 (five cases). In conclusion, SMZL, but not NMZL, demonstrates large genomic imbalances and frequent loss of the 7q31.32 and 7q36.2 regions involving POT1 and SHH, respectively. In NMZL, loss of FADD and gain of GLI1 are frequent events.
authors.affiliation: Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA. fvegava@mdanderson.org
authors.forename: Francisco
authors.initials: F
authors.lastname: Vega
authors.forename: Jeong Hee
authors.initials: JH
authors.lastname: Cho-Vega
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Lennon
authors.forename: Madan G
authors.initials: MG
authors.lastname: Luthra
authors.forename: Jaime
authors.initials: J
authors.lastname: Bailey
authors.forename: Megan
authors.initials: M
authors.lastname: Breeden
authors.forename: Dan
authors.initials: D
authors.lastname: Jones
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.forename: Rajyalakshmi
authors.initials: R
authors.lastname: Luthra
mesh_terms: D000368:Aged; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008206:Lymphatic Diseases / Q000235:genetics* / Q000503:physiopathology; D018442:Lymphoma, B-Cell, Marginal Zone / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000089804:Shelterin Complex; D013160:Splenic Neoplasms / Q000235:genetics* / Q000503:physiopathology; D016615:Telomere / Q000235:genetics; D034501:Telomere-Binding Proteins / Q000235:genetics / Q000502:physiology
chemical_list: D004273:DNA, Neoplasm; D053823:Hedgehog Proteins; C440849:POT1 protein, human; D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins