Publications by authors named "E Sonneveld"
Article Synopsis
- Several genomic subsets of mutations in acute myeloid leukemia (AML) patients were studied to understand their impact on outcomes and the underlying biology, revealing that type D mutations correlated with poorer survival rates compared to other types.
- In a cohort of over 4,000 patients, a study found that those with type A, B, and rare variants had more favorable overall survival rates, while type D patients exhibited significantly worse outcomes.
- The research highlighted that codon optimality in type D mutations affects gene expression and translation efficiency, leading to poorer prognostic implications and indicating the need for a potential reclassification of type D patients to higher-risk groups.
Measurable residual disease (MRD) is regularly tested at later timepoints after the end of first consolidation (EOC) in children with acute lymphoblastic leukemia (ALL). The question remains whether this is useful for detecting (molecular) relapse. We investigated the clinical relevance of MRD after EOC in intermediate risk patients treated on DCOG-ALL-10 (n = 271) and DCOG-ALL-9 (n = 122), with MRD <0.
View Article and Find Full Text PDFPediatric acute lymphoblastic leukemia (ALL) is marked by low mutational load at initial diagnosis, which increases at relapse. To determine which processes are active in (relapsed) ALL and how they behave during disease progression before and after therapy, we performed whole genome sequencing on 97 tumor samples of 29 multiply relapsed ALL patients. Mutational load increased upon relapse in 28 patients and upon every subsequent relapse in 22 patients.
View Article and Find Full Text PDFComparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.
Lancet Child Adolesc Health
October 2024
Article Synopsis
- The study examines the effectiveness of two methods for identifying cancer predisposition syndromes (CPS) in children with newly diagnosed cancers in a Dutch pediatric oncology center.
- Out of 1052 eligible children, 733 underwent both a phenotype-driven approach and a broader phenotype-agnostic gene sequencing, identifying 53 cases of CPS.
- The phenotype-agnostic method revealed more CPS cases, demonstrating that broad genetic sequencing can be more effective than clinical selection based solely on symptoms.