title: Detailed assessment of copy number alterations revealing homozygous deletions in 1p and 13q in mantle cell lymphoma.
abstract: Mantle cell lymphoma (MCL) is characterized by over-expression of cyclin Dl as a result of the characteristic t(11;14)(q13;q32). However, this translocation alone has proven not to be sufficient for lymphomagenesis, suggesting the involvement of additional alterations. We have characterized 35 cases of MCL by array comparative genomic hybridization with an average resolution of 0.97 Mb distributed over the complete human genome. The most common alterations were losses in 1p13.2-p31.1, 6q16.2-q27, 8p21.3, 9p13.2-p24.3, 9q13-q31.3, 11q14.3-q23.3, 13q14.13-q21.31, 13q33.1-q34, and 22q11.23-q13.33 and gains involving 3q21.2-q29, 7p12.1-p22.3, 8q24.13-q24.23, and 18q21.33-q22.3. Four homozygous deletions were identified in totally three patients; two overlapping at 1p32.3, and two adjacent at 13q32.3. The homozygous deletions at 1p32.3 cover the CDKN2C locus (coding for p18), while the region at 13q32.3 does not encompass any known tumor suppressor genes. A gain in 3q was significantly associated with shorter survival (P=0.047).
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden. emma.flordal.thelander@ki.se
authors.forename: Emma
authors.initials: E
authors.lastname: Flordal Thelander
authors.forename: Koichi
authors.initials: K
authors.lastname: Ichimura
authors.forename: V Peter
authors.initials: VP
authors.lastname: Collins
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Walsh
authors.forename: Gisela
authors.initials: G
authors.lastname: Barbany
authors.forename: Anette
authors.initials: A
authors.lastname: Hagberg
authors.forename: Anna
authors.initials: A
authors.lastname: Laurell
authors.forename: Richard
authors.initials: R
authors.lastname: Rosenquist
authors.forename: Catharina
authors.initials: C
authors.lastname: Larsson
authors.forename: Svetlana
authors.initials: S
authors.lastname: Lagercrantz
mesh_terms: D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D050763:Cyclin-Dependent Kinase Inhibitor p18 / Q000235:genetics / Q000378:metabolism; D018628:Gene Dosage; D016147:Genes, Tumor Suppressor / Q000502:physiology; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020522:Lymphoma, Mantle-Cell / Q000235:genetics*; D046228:Microarray Analysis; D009154:Mutation / Q000235:genetics; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D015996:Survival Rate; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D050763:Cyclin-Dependent Kinase Inhibitor p18