title: High-throughput genomic analysis in Waldenström's macroglobulinemia.
abstract: Single-nucleotide polymorphism array (SNPa) and array-based comparative genomic hybridization (aCGH) are among the most sensitive genomic high-throughput screening techniques used in the exploration of genetic abnormalities in Waldenström's macroglobulinemia (WM). SNP and aCGH allow the identification of copy number abnormalities (CNA) at the kilobase level thus identifying cryptic genetic abnormalities unseen by lower-resolution approaches such as conventional cytogenetic or fluorescence in situ hybridization (FISH). CNA were identified in nearly 80% of cases by aCGH that delineated in addition minimal altered regions. At gene level, remarkable findings affecting genes involved in the regulation of the NF-kB signaling pathways were identified, such as biallelic inactivation of TNFAIP3 and TRAF3. SNPa also allowed characterization of copy neutral losses such as uniparental disomies (UPD), which is an important and frequent mechanism of gene alteration in cancer cells. Herein, we summarize the current knowledge of WM genomic basis using these high-throughput techniques.
authors: UF de Biologie Moléculaire, CH de Valenciennes, Valenciennes, France.
authors: Stéphanie
authors: S
authors: Poulain
authors: Esteban
authors: E
authors: Braggio
authors: Christophe
authors: C
authors: Roumier
authors: Rachid
authors: R
authors: Aijjou
authors: Natacha
authors: N
authors: Broucqsault
authors: Sylvie
authors: S
authors: Galiègue-Zouitina
authors: Salomon
authors: S
authors: Manier
authors: Valérie
authors: V
authors: Soenen
authors: Olivier
authors: O
authors: Nibourel
authors: Patrick
authors: P
authors: Duthilleul
authors: Rafael
authors: R
authors: Fonseca
authors: Xavier
authors: X
authors: Leleu
mesh_terms: D055028:Comparative Genomic Hybridization; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D040081:Protein Array Analysis; D008258:Waldenstrom Macroglobulinemia / Q000235:genetics*