Publications by authors named "P Marijon"
Article Synopsis
- Grade 3 meningiomas are rare and linked to high morbidity and mortality, but the effects of surgical resection and radiation therapy on patient outcomes are still debated.
- A study was conducted on 65 patients with de novo anaplastic meningiomas, revealing a median progression-free survival of 23 months and an overall survival of 2 years, with certain treatments showing significant impact.
- The combination of gross-total resection and adjuvant radiotherapy improved progression-free survival, while tumor grade and age at diagnosis also affected outcomes.
Article Synopsis
- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
Article Synopsis
- PIK3CA mutations in meningiomas are rare but significant, suggesting they may be potential targets for therapy due to their occurrence in both benign and malignant tumors, including those influenced by hormones.
- Researchers used genetically engineered mouse models to show that these mutations in meningeal cells can lead to the formation and progression of meningiomas, while hormone exposure alone does not trigger tumor growth in this context.
- The study also revealed that while hormone presence increases mutation burden in PIK3CA-mutant conditions, it primarily drives breast tumor formation rather than meningioma development, highlighting the dominant role of PIK3CA mutations in meningioma tumorigenesis.
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels.
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