Publications by authors named "P S Thorner"
Most meningiomas are dural-based extra-axial tumors in close contact with the brain. Expression of genes and proteins at the tumor-brain interface in brain-invasive meningioma is basically unknown. Using the NanoString pan-cancer panel, differential expression of genes in the invasive edge versus main tumor body was determined in 12 invasive meningiomas (comprising the discovery cohort), and 6 candidate genes: DTX1, RASGRF1, GRIN1, TNR, IL6, and NR4A1, were identified.
View Article and Find Full Text PDFPediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma.
Genes Chromosomes Cancer
September 2024
Article Synopsis
- Classical and mixed congenital mesoblastic nephroma (CMN) show an internal tandem duplication (ITD) of the EGFR gene, while cellular CMN typically has an ETV6::NTRK3 gene fusion, which is also found in infantile fibrosarcoma.
- A study on pediatric fibromatosis revealed that none of the cases exhibited EGFR ITD, suggesting that fibromatosis is not characterized by this genetic alteration.
- The findings indicate that soft tissue tumors with EGFR ITD may resemble infantile fibrosarcoma or mixed CMN, but further research is needed to understand their biological behavior in comparison to fibrosarcoma and other related tumors.
Objective: Pulmonary blastoma is a rare, biphasic, adult-onset lung tumor. In this study, we investigate whether DICER1 pathogenic variants are a feature of pulmonary blastomas through in-depth analysis of the molecular events defining them.
Methods: We performed exome-wide sequencing and DNA methylation profiling of 8 pulmonary blastomas from 6 affected persons.
DICER1 tumor predisposition syndrome results from pathogenic variants in DICER1 and is associated with a variety of benign and malignant lesions, typically involving kidney, lung, and female reproductive system. Over 70% of sarcomas in DICER1 tumor predisposition syndrome occur in females. Notably, pediatric cystic nephroma (pCN), a classic DICER1 tumor predisposition syndrome lesion, shows estrogen receptor (ER) expression in stromal cells.
View Article and Find Full Text PDFDetection of EGFR T790M mutation using liquid biopsy for non-small cell lung cancer: Utility of droplet digital polymerase chain reaction vs. cobas real-time polymerase chain reaction.
Pathol Res Pract
March 2024
Article Synopsis
- Digital platforms like droplet digital PCR (ddPCR) are more sensitive than traditional methods for detecting the EGFR T790M mutation in lung cancer, but there's no standard cut-off value for predicting treatment outcome with osimertinib.
- The study involved comparing results from ddPCR and the standard cobas assay in patients whose lung cancer had progressed after earlier treatments, finding that 38% of additional T790M mutations were detected only with ddPCR.
- A fractional abundance (FA) cut-off of 0.1% in ddPCR was linked to better patient outcomes, suggesting that sequential testing with ddPCR could identify more patients who would benefit from osimertinib treatment.