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Integration of genomic and gene expression data of childhood ALL without known aberrations identifies subgroups with specific genetic hallmarks by Silvia Bungaro; Marta Campo Dell'Orto; Andrea Zangrando; Dario Basso; Tatiana Gorletta; Luca Lo Nigro; Anna Leszl; Bryan D. Young; Giuseppe Basso; Silvio Bicciato; Andrea Biondi; Gertruy te Kronnie; Giovanni Cazzaniga is a Medicine article available to read on EtoBox.
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## Abstract Pediatric acute lymphoblastic leukemia (ALL) comprises genetically distinct subtypes. However, 25% of cases still lack defined genetic hallmarks. To identify genomic aberrancies in childhood ALL patients nonclassifiable by conventional methods, we performed a single nucleotide polymorphisms (SNP) array‐based genomic analysis of leukemic cells from 29 cases. The vast majority of cases analyzed (19/24, 79%) showed genomic abnormalities; at least one of them affected either genes involved in cell cycle regulation or in B‐cell development. The most relevant abnormalities were __CDKN2A__/9p21 deletions (7/24, 29%), __ETV6__ (__TEL__)/12p13 deletions (3/24, 12%), and intrachromosomal amplifications of chromosome 21 (iAMP21) (3/24, 12%). To identify variation in expression of genes directly or indirectly affected by recurrent genomic alterations, we integrated genomic and gene expression data generated by microarray analyses of the same samples. __SMAD1__ emerged as a down‐regulated gene in __CDKN2A__ homozygous deleted cases compared with nondeleted. The __JAG1__ gene, encoding the Jagged 1 ligand of the Notch receptor, was among a list of differentially expressed (up‐regulat
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- Author
- Silvia Bungaro; Marta Campo Dell'Orto; Andrea Zangrando; Dario Basso; Tatiana Gorletta; Luca Lo Nigro; Anna Leszl; Bryan D. Young; Giuseppe Basso; Silvio Bicciato; Andrea Biondi; Gertruy te Kronnie; Giovanni Cazzaniga
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)
- Published
- 2008
- Language
- EN
- Field
- Medicine (Life Sciences)