title: The origin of deletion 22q11 in chronic lymphocytic leukemia is related to the rearrangement of immunoglobulin lambda light chain locus.
abstract: The technology of array comparative genomic hybridization (array-CGH/aCGH) enabled the identification of novel genomic aberrations in chronic lymphocytic leukemia (CLL) including the monoallelic and biallelic deletions affecting 22q11 locus. In contrast to previous publications, we hypothesized that the described 22q11 deletions are a consequence of the rearrangement of immunoglobulin lambda light chain locus (IGL) segments surrounding several protein-coding genes located in this region. Indeed, using array-CGH and PCR analysis we show that all deletions (n=7) affecting the 22q11 locus in our cohort (n=40) are based on the physiological mechanism of IGL rearrangement. This demonstrates that this loss of genetic material is likely not pathogenic and in fact is merely a marker of IGL rearrangement.
authors.affiliation: CEITEC, Center of Molecular Medicine, Masaryk University, Brno, Czech Republic. marek.mraz@email.cz
authors.forename: Marek
authors.initials: M
authors.lastname: Mraz
authors.forename: Katerina
authors.initials: K
authors.lastname: Stano Kozubik
authors.forename: Karla
authors.initials: K
authors.lastname: Plevova
authors.forename: Katerina
authors.initials: K
authors.lastname: Musilova
authors.forename: Boris
authors.initials: B
authors.lastname: Tichy
authors.forename: Marek
authors.initials: M
authors.lastname: Borsky
authors.forename: Petr
authors.initials: P
authors.lastname: Kuglik
authors.forename: Michael
authors.initials: M
authors.lastname: Doubek
authors.forename: Yvona
authors.initials: Y
authors.lastname: Brychtova
authors.forename: Jiri
authors.initials: J
authors.lastname: Mayer
authors.forename: Sarka
authors.initials: S
authors.lastname: Pospisilova
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000951:Antigens, Neoplasm / Q000235:genetics; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005500:Follow-Up Studies; D015321:Gene Rearrangement; D006801:Humans; D007146:Immunoglobulin lambda-Chains / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011379:Prognosis
chemical_list: D000951:Antigens, Neoplasm; D007146:Immunoglobulin lambda-Chains; C404944:PRAME protein, human