Transcriptomics

Dataset Information

12

High-Resolution Genomic Profiling of Adult and Pediatric Core-Binding-Factor Acute Myeloid Leukemia Reveals New Recurrent Genomic Alterations


ABSTRACT: To identify cooperating lesions in core-binding-factor acute myeloid leukemia (CBF-AML), we performed single-nucleotide polymorphism (SNP)-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations (CNAs) per case at diagnosis in both patient populations. Recurrent minimally deleted regions (MDRs) were identified at 7q36.1 (7.7%), 9q21.13 (5%), 11p13 (2.3%), and 17q11.2 (2%). Recurrent focal gains were identified at 8q24.21 (4.7%) and 11q25 (1.7%), both containing a single non-coding RNA. Recurrent regions of copy-neutral loss-of-heterozygosity were identified at 1p (1%), 4q (0.7%), and 19p (0.7%), with known mutated cancer genes present in the minimally altered region. Analysis of relapse samples identified recurrent MDRs at 3q13 (12.2%), 5q (4.9%), and 17p (4.9%). SNP genotyping was performed on 300 adult and pediatric CBF-AMLs; t(8;21), n=157 (adult, n=114; pediatric, n=43); and inv(16), n=143 (adult, n=104; pediatric, n=39). Germline control DNA from remission bone marrow or peripheral blood was available for paired analysis in 175 patients. In addition, for 41 patients, matched relapse samples were analyzed. Data were processed using reference alignment, dChipSNP and circular binary segmentation.

ORGANISM(S): Homo sapiens  

SUBMITTER: Guangchun Song   Jan Krönke  Arnold Ganser  Lars Bullinger  Jing Ma  Jennifer Edelmann  Salil Goorha  Jinjun Cheng  Asmaa Quessar  Stanley Pounds  Verena I Gaidzik  Richard F Schlenk  Juliane Gohlke  Xiaoping Su  Jeffrey E Rubnitz  Jürgen Krauter  Peter Paschka  James R Downing  Raul Ribeiro  Hartmut Döhner  Ina Radtke  Karlheinz Holzmann  Sheila Shurtleff  Konstanze Döhner  Michael W Kühn 

PROVIDER: E-GEOD-32462 | ArrayExpress | 2012-02-07

SECONDARY ACCESSION(S): GSE32462PRJNA147873

REPOSITORIES: GEO, ArrayExpress

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Publications


To identify cooperating lesions in core-binding factor acute myeloid leukemia, we performed single-nucleotide polymorphism-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations per case at diagnosis in both patient populations. Recurrent minimally deleted regions (MDRs) were identified at 7q36.1 (7.7%), 9q21.32 (5%), 11p13 (2.3%), and 17q11.2 (2%). Approximately one-half of the 7q deletions were detectable only  ...[more]

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