Publications by authors named "C J M van Noesel"
Introduction: High-resolution anoscopy (HRA) to prevent anal cancer is complex and screening capacity is limited. Previously, we showed that DNA methylation analysis of anal high-grade squamous intraepithelial lesions (HSIL) biopsies can distinguish between HSIL with an increased cancer risk, and HSIL with a low cancer risk, in which treatment may be safely withheld. Here, we assessed the performance of methylation analysis in anal swabs to identify patients with underlying HSIL with an increased cancer risk.
View Article and Find Full Text PDFDuring the maturation of pre-B cells, the recombination activating gene 1 and 2 (RAG1/2) endonuclease complex plays a crucial role in coordinating V(D)J recombination by introducing DNA breaks in immunoglobulin (Ig) loci. Dysregulation of RAG1/2 has been linked to the onset of B cell malignancies, yet the mechanisms controlling RAG1/2 in pre-B cells exposed to excessive DNA damage are not fully understood. In this study, we show that DNA damage-induced activation of p53 initiates a negative-feedback loop which rapidly downregulates RAG1 levels.
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- Juvenile xanthogranuloma (JXG) is a type of skin tumor mostly found in children, but some cases occur in other parts of the body, and their genetic causes are not fully understood.* -
- A study analyzed 16 children and 5 adults with extracutaneous JXG using advanced sequencing, finding that numerous genetic alterations, especially related to kinase fusions, were present in most children.* -
- The findings indicate that while surgery is common for treatment, some cases can regress on their own, and specific genetic alterations could help inform better treatment options in the future.*
In developing B cells, V(D)J gene recombination is initiated by the RAG1/2 endonuclease complex, introducing double-stranded DNA breaks (DSBs) in V, D, and J genes and resulting in the formation of the hypervariable parts of immunoglobulins (Ig). Persistent or aberrant RAG1/2 targeting is a potential threat to genome integrity. While RAG1 and RAG2 have been shown to bind various regions genome-wide, the in vivo off-target DNA damage instigated by RAG1/2 endonuclease remains less well understood.
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- Chronic B-cell receptor signals triggered by antigens are important for developing mucosa-associated lymphoid tissue lymphomas, particularly ocular adnexal MALT lymphomas (OAMLs).
- In a study of 124 OAMLs, researchers found that 5% expressed a high-affinity rheumatoid factor and that many had a specific bias toward using the IGHV4-34 immunoglobulin gene, which reacts with certain cellular epitopes.
- Additionally, some OAML-derived IgMs showed reactivity with proteins associated with autoimmune diseases, suggesting that local autoimmune responses contribute significantly to the development of a notable portion of OAMLs.