Publications by authors named "S V van Reijmersdal"
Monoallelic inactivation of CCCTC-binding factor (CTCF) in human cancer drives altered methylated genomic states, altered CTCF occupancy at promoter and enhancer regions, and deregulated global gene expression. In patients with T cell acute lymphoblastic leukemia (T-ALL), we find that acquired monoallelic CTCF-inactivating events drive subtle and local genomic effects in nearly half of t(5; 14) (q35; q32.2) rearranged patients, especially when CTCF-binding sites are preserved in between the BCL11B enhancer and the TLX3 oncogene.
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- A study investigates the impact of evaluating rare de novo variants (DNVs) in whole exome sequencing (WES) for patients suspected of having inborn errors of immunity (IEI).
- In a cohort of 123 patients, systematic assessment of DNVs led to identifying 14 potential candidates linked to immune functions, resulting in molecular diagnoses for some patients.
- The research advocates for incorporating trio-based sequencing in routine diagnostics, providing evidence that certain loss-of-function mutations contribute to autoinflammatory diseases.
Purpose: Wilms tumor (WT) is associated with (epi)genetic predisposing factors affecting a growing number of WT predisposing genes and loci, including those causing Beckwith-Wiedemann spectrum (BWSp) or -related syndromes. To guide genetic counseling and testing, we need insight into the prevalence of WT predisposing (epi)genetic factors.
Patients And Methods: All children diagnosed with WT in the Netherlands between 2015 and 2020 were referred to a clinical geneticist.
Introduction: One-quarter of the relapses in children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) occur very early (within 18 months, before completion of treatment), and prognosis in these patients is worse compared to cases that relapse after treatment has ended.
Methods: In this study, we performed a genomic analysis of diagnosis-relapse pairs of 12 children who relapsed very early, followed by a deep-sequencing validation of all identified mutations. In addition, we included one case with a good initial treatment response and on-treatment relapse at the end of upfront therapy.