Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

Summary, in English

To identify copy number alterations (CNAs) in pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL), array comparative genomic hybridization was performed on 50 cases; detected CNAs were validated in a cohort of 191 cases analyzed by single nucleotide polymorphism arrays. Apart from CNAs involving leukemia-associated genes, recurrent deletions targeting genes not previously implicated in BCP ALL, e.g. INIP, IRF1 and PDE4B, were identified. Deletions of the DNA repair gene INIP were exclusively found in cases with t(12;21), and deletions of SH2B3 were associated with intrachromosomal amplification of chromosome 21 (p

• Författare: Ingegerd Ivanov Öfverholm; Anh Nhi Tran; Linda Olsson; Vasilios Zachariadis; Mats Heyman; Eva Rudd; Elisabeth Syk Lundberg; Magnus Nordenskjöld; Bertil Johansson; Ann Nordgren; Gisela Barbany
• Avdelning/ar: Avdelningen för klinisk genetik; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publiceringsår: 2016-04-18
• Språk: Engelska
• Sidor: 2161-2170
• Publikation/Tidskrift/Serie: Leukemia & Lymphoma
• Volym: 57
• Issue: 9
• Länkar: http://dx.doi.org/10.3109/10428194.2015.1136740
• Dokumenttyp: Artikel i tidskrift
• Förlag: Taylor & Francis
• Ämne: Hematology; Medical Genetics
• Nyckelord: B-Other; CNA; copy number; deletion; pediatric ALL
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1042-8194