Dataset Information
Tracing the development of acute myeloid leukemia in CBL-syndrome
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Dietmar Pfeifer
PROVIDER: E-MEXP-3997 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Tracing the development of acute myeloid leukemia in CBL syndrome.
Blood 20140203 12
We describe the development of acute myeloid leukemia (AML) in an adult with CBL syndrome caused by a heterozygous de novo germline mutation in CBL codon D390. In the AML bone marrow, the mutated CBL allele was homozygous after copy number-neutral loss-of-heterozygosity and amplified through a chromosomal gain; moreover, an inv(16)(p13q22) and, as assessed by whole-exome sequencing, 12 gene mutations (eg, in CAND1, NID2, PTPRT, DOCK6) were additionally acquired. During complete remission of the ...[more]