title: Molecular cytogenetic analysis in splenic lymphoma with villous lymphocytes: frequent allelic imbalance of the RB1 gene but not the D13S25 locus on chromosome 13q14.
abstract: Structural abnormalities of chromosome 13q are one of the most frequent genetic aberrations in human tumors. 13q rearrangements are, however, infrequent in splenic lymphoma with villous lymphocytes (SLVL) by karyotype analysis. We have investigated the incidence of 13q14 deletions in a series of 74 SLVL cases by interphase fluorescence in situ hybridization using unique sequence probes for the RB1 and the D13S25 loci, which are frequently deleted in chronic lymphocytic leukemia. Chromosome 12 was also evaluated by fluorescence in situ hybridization using a pericentromeric DNA probe. 13q14 deletion was detected in 37 of 74 (50%) tumors. Thirty-five cases (47%) exhibited monoallelic loss of RB1, and 9 (12%) showed hemizygous D13S25 deletion. Seven cases displayed coexistence of RB1 and D13S25 deletion. Trisomy 12 was detected in 2 of 74 (3%) tumors. G-banding analysis in 40 tumors showed no interstitial deletion of 13q14 in any case. In contrast with the molecular findings observed in chronic lymphocytic leukemia, our results indicate that trisomy 12 is an uncommon chromosomal aberration in SLVLs, and microdeletion of 13q14 at the RB1 locus but not D13S25 is a frequent and specific genetic event in this disease, suggesting that allelic loss of the RB1 gene may play a role in the pathogenesis of SLVL.
authors.affiliation: Academic Department of Hematology and Cytogenetics, The Royal Marsden Hospital, London, United Kingdom.
authors.forename: J A
authors.initials: JA
authors.lastname: García-Marco
authors.forename: A
authors.initials: A
authors.lastname: Nouel
authors.forename: B
authors.initials: B
authors.lastname: Navarro
authors.forename: E
authors.initials: E
authors.lastname: Matutes
authors.forename: D
authors.initials: D
authors.lastname: Oscier
authors.forename: C M
authors.initials: CM
authors.lastname: Price
authors.forename: D
authors.initials: D
authors.lastname: Catovsky
mesh_terms: D000368:Aged; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D002882:Chromosomes, Human, Pair 13; D003582:Cytogenetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008297:Male; D016160:Retinoblastoma Protein / Q000235:genetics*; D013160:Splenic Neoplasms / Q000235:genetics*; D014314:Trisomy
chemical_list: D016160:Retinoblastoma Protein