Publications by authors named "P Cimino"
Astrocytomas that harbor recurrent genomic alterations in MYB or MYBL1 are a group of Pediatric-type diffuse low-grade gliomas that were newly recognized in the 2021 WHO Classification of Tumors of the Central Nervous System. These tumors are described in the WHO classification as harboring fusions in MYB or MYBL1. In this report, we examine 14 consecutive cases in which a MYB or MYBL1 alteration was identified, each with diagnostic confirmation by genome-wide DNA methylation profiling (6 Angiocentric gliomas and 8 Diffuse astrocytomas, MYB- or MYBL1-altered), for their specific genomic alterations in these genes.
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- - Pediatric high-grade gliomas often have gene fusions with receptor tyrosine kinase genes, such as NTRK, leading to high initial responses to treatment but eventual recurrence due to new mutations.
- - Researchers created mouse models of gliomas driven by NTRK fusions to study how different genetic variations influence tumor characteristics and aggressiveness.
- - While TRK kinase inhibitors improve survival rates in these mice, they do not eliminate the tumors, with recurrence likely due to ERK activation; combining these inhibitors with MEK inhibitors might enhance treatment effectiveness.
Article Synopsis
- Oligodendroglioma, particularly the IDH-mutant and 1p/19q-codeleted type, shows varied outcomes based on patient age, with research indicating a bimodal age distribution.
- Elevated expression and gene body hypermethylation of the HOXD12 gene were identified as significant factors linked to older patient age and shorter survival rates across multiple studies.
- Analysis revealed that HOXD12 is more active in cancerous tissue and is associated with aggressive tumor characteristics and stem-like cell properties, suggesting it plays a critical role in the progression of oligodendroglioma in older patients.
Article Synopsis
- Papillary tumor of the pineal region (PTPR) is a rare and unique tumor characterized by specific molecular and histopathologic features, with limited prior research on its variations and clinical presentations.
- In a study of 76 confirmed PTPR cases, researchers identified two main methylation groups (PTPR-A and PTPR-B) and further classified PTPR-B into two subtypes (B1 and B2) based on DNA methylation profiles and genomic variations.
- Clinical outcomes revealed that nearly half of the patients experienced tumor progression, with significant differences in outcomes among the identified subtypes, highlighting the tumor's molecular diversity and potential for recurrence.
Article Synopsis
- - Primary Familial Brain Calcification (PFBC) is a rare condition mainly affecting adults, characterized by abnormal calcium deposits in the brain, leading to movement disorders like parkinsonism and various non-motor symptoms that need further exploration.
- - In a study of 50 PFBC patients, genetic testing revealed mutations in some patients and highlighted symptoms such as headaches, anxiety, depression, sleep disturbances, and constipation, with cognitive issues found in more than half of the cohort.
- - The findings suggest that non-motor symptoms are common among PFBC patients and emphasize the importance of thorough assessments to address the diverse needs of these individuals.