Publications by authors named "Joakim Wille"
Article Synopsis
- The ChiCaP study investigates the role of childhood cancer predisposition (ChiCaP) syndromes and how integrating germline whole-genome sequencing (gWGS) with tumor sequencing can improve diagnosis and treatment strategies for children with solid tumors.
- Out of 309 children tested, 11% were diagnosed with ChiCaP syndromes, often missed before, showing significant diagnostic yield especially in certain cancers like retinoblastomas and high-grade astrocytomas.
- The findings underscore the importance of combining systematic phenotyping and genomic diagnostics, as it enables personalized care and tailored treatment recommendations for a substantial number of affected patients.
Article Synopsis
- The study examined how whole-genome sequencing (WGS) and RNA sequencing can help in diagnosing and treating childhood cancers, focusing on children with primary or relapsed solid tumors in Sweden.
- Over the first 14 months, 118 tumors were analyzed, and 95% of those with mutations had clear clinical relevance, with significant findings such as additional subclassifications and potential treatment targets in 26% of the cases.
- Overall, the research highlights the importance of integrating genomic data into clinical decision-making for improved diagnosis and treatment options in pediatric solid tumors.
Introduction: This study protocol outlines the evaluation of the pictorial support in person-centred care for children (PicPecc). PicPecc is a digital tool used by children aged 5-17 years to self-report symptoms of acute lymphoblastic leukaemia, who undergo high-dose methotrexate treatments. The design of the digital platform follows the principles of universal design using pictorial support to provide accessibility for all children regardless of communication or language challenges and thus facilitating international comparison.
View Article and Find Full Text PDFMalignant rhabdoid tumour (MRT) is a childhood neoplasm of high malignancy characterised by biallelic mutation and/or loss of the epigenetic master regulator SMARCB1, accompanied by no or few other oncogenic drivers. In spite of their generally low mutational burden, an intratumoural T-cell response has been reported in a subset of MRTs, indicating that immune checkpoint inhibition may be considered a viable therapy option for some patients. We assess here the evolution over time and space of predicted neoantigens and indicators of immune checkpoint status in two MRT patients who progressed under treatment.
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