Genetic characterization of intramuscular myxomas

Conclusion: Firstly, our data indicate a possible association between chromosomal abnormalities and GNAS pathogenic variants in intramuscular myxomas. Secondly, the presence of the rare pathogenic variants R201S, p.R201G and p.Q227E in 26% (5 out of 19) of myxomas with GNAS pathogenic variants shows that methodologies designed to detect only the common "hotspot" of p.R201C and p.R201H will give false negative results. Finally, a comparison between Ion AmpliSeq Cancer Hotspot Panel v2 and direct cycle Sanger sequencing showed that direct cycle Sanger sequencing provides a quick, reliable, and relatively cheap method to detect GNAS pathogenic variants, matching even the most cutting-edge sequencing methods.PMID:38317844 | PMC:PMC10838995 | DOI:10.3389/pore.2024.1611553

Source: Pathology Oncology Research - February 6, 2024 Category: Pathology Authors: William John Hatchett Marta Brunetti Kristin Andersen Maren Randi Tands æther Ingvild Lobmaier Marius Lund-Iversen Thomas Lien-Dahl Francesca Micci Ioannis Panagopoulos Source Type: research