A5022810050- Acute Lymphoblastic Leukemia research
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Genetic and Kidney Cyst Diseases
- Virus-based gene therapy research
- Breast Cancer Treatment Studies
- Cancer-related gene regulation
- Genetic factors in colorectal cancer
- Lymphoma Diagnosis and Treatment
- Galectins and Cancer Biology
- Colorectal Cancer Treatments and Studies
- Ubiquitin and proteasome pathways
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Carcinogens and Genotoxicity Assessment
- Protein Tyrosine Phosphatases
- Neuroblastoma Research and Treatments
- Cancer-related Molecular Pathways
- Chronic Myeloid Leukemia Treatments
- Cellular transport and secretion
Princess Máxima Center
2021-2024
Radboud University Medical Center
2019
Radboud University Nijmegen
2012-2019
Heterozygous germline pathogenic variants (GPVs) in
Abstract Lynch syndrome (LS) predisposes to cancer in adulthood and is caused by heterozygous germline variants a mismatch repair (MMR) gene. Recent studies show an increased prevalence of LS among children with cancer, suggesting causal relationship. For LS‐spectrum (LSS) cancers, including high‐grade gliomas colorectal causality has been supported typical MMR‐related tumor characteristics, but for non‐LSS unclear. We characterized 20 malignant tumors 18 LS, 16 tumors. investigated second...
Abstract Background Renal involvement in patients with the m.3243A>G mutation may result end-stage renal disease (ESRD) requiring replacement therapy. Although kidney transplantations have been performed a small number of patients, short- and long-term follow-up data are lacking. Methods We describe five m.3243A<G who received transplant, including up to 13 years. also summarize all cases (n = 13) transplantation carriers described literature. Results Proteinuria or without...
We describe a case of boy with neurodevelopmental delay and diffuse large B-cell lymphoma (DLBCL) in whom we discovered germline de novo 2p16.3 deletion including MSH6 part the FBXO11 gene. A causative role for cancer development was excluded based on tumor characteristics. The constitutional explains patient. protein is involved BCL-6 ubiquitination required germinal center reaction resulting B cell differentiation. Somatic loss function alterations result overexpression which known driver...
Abstract Manual counting of MIB‐1 positive cells which has been suggested as an alternative to centroblast for the diagnostic grading follicular lymphoma is a laborious task. In this study, validity automated measurement area analyzed approach. Archival stained tissue sections 15 lymphomas were assessed manually and automatically by three independent observers. Concordance correlation coefficients variation calculated study reproducibility variability both methods compare result from...
To the Editor: In response to case report by Catts et al,1 we present a second patient with myelodysplastic syndrome (MDS) and same de novo germline RRAS variant. The female was born pulmonary subvalvular valvular stenosis, which surgically corrected at age 3. She had normal growth development attended regular education. presented frequent nosebleeds menorrhagia 15 without probable cause. Two years later she fatigue persistent menorrhagia, low platelets diagnosed MDS monosomy 7. treated an...