FSP Precision Medicine Academy Virtual Tumor Board - Moffitt Cancer Center-Virtual Tumor Board

Video Transcription

Video Summary

This virtual tumor board from the Florida Society of Pathologists highlighted how molecular pathology and multidisciplinary review can dramatically change diagnosis and treatment.<br /><br />Two sarcoma-like cases showed the power of biomarker testing. In the first, a 62-year-old man with lung and adrenal metastases was initially thought to have a sarcoma, but molecular findings, including a strong UV mutational signature and high tumor mutational burden, supported metastatic undifferentiated melanoma. He responded completely to pembrolizumab and has remained disease-free for years. In the second, a 78-year-old woman had a recurrent spindle cell tumor in the leg initially thought benign. MDM2 amplification and CDK4-related alterations confirmed dedifferentiated liposarcoma, leading to a more aggressive surgical approach and highlighting the importance of recognizing tumor heterogeneity and using molecular confirmation.<br /><br />The session then shifted to CNS tumors and the growing role of DNA methylation profiling. A 69-year-old woman with widespread metastatic disease had a skull mass initially treated as carcinoma of unknown primary. Pathology, NF2 mutation, CDKN2A/CDKN2B loss, and methylation profiling ultimately supported metastatic meningioma, an extremely rare diagnosis outside the CNS. A 77-year-old man with a right frontal brain mass had histology suggesting a high-grade neuroepithelial tumor; RNA fusion testing and methylation profiling confirmed IDH-wildtype glioblastoma with primitive neuronal component. MGMT unmethylated status indicated poor expected response to temozolomide, and he was enrolled in a clinical trial with encouraging early response.<br /><br />Overall, the presentation emphasized that sarcomatoid tumors are not always sarcomas, that methylation profiling is powerful but must be interpreted with histology and clinical context, and that precise molecular diagnosis can open the door to better, more targeted therapy.

Keywords

molecular pathology

virtual tumor board

sarcoma

biomarker testing

melanoma

MDM2 amplification

dedifferentiated liposarcoma

DNA methylation profiling

glioblastoma

targeted therapy