DNA Methylation Classifier Illuminates Sarcoma Diagnoses and Molecular Markers

Researchers evaluated a sarcoma DNA methylation classifier for soft tissue and bone tumors, including 619 cases. The classifier exhibited high sensitivity and specificity for fusion sarcomas (Ewing, synovial, cic-rearranged, bcor-rearranged), leiomyosarcoma, MPNST, and malignant vascular tumors. However, sensitivity was low for desmoid fibromatosis, neurofibroma, and schwannoma, with low specificity for certain diagnoses. MDM2 amplification and RB1 loss aided lipomatous tumor diagnosis. The classifier, though valuable, may evolve with additional entities and refine methylation classes, providing insights into sarcoma interrelationships.