Comprehensive Molecular Profiling of Undifferentiated Embryonal Sarcoma of the Liver
Undifferentiated embryonal sarcoma of the liver (UESL) is a rare and aggressive malignancy and the molecular underpinnings of this cancer have been largely unexplored.
However, Moffitt Cancer Center is leading the research in rare sarcomas and has performed the most comprehensive molecular analysis to-date of UESL using a combination of next-generation sequencing and high-density arrays.
Utilizing whole exome sequencing, RNA sequencing, miRNA sequencing, and SNP arrays Dr. Andrew Brohl and his team found that UESL tumors harbor aberrant transcriptional start sites within the C19MC region that is driven by structural rearrangement, leading to extreme overexpression of C19MC miRNAs.
It was further found that C19MC miRNAs negatively correlate with TP53 and K-Ras regulatory miRNAs. Undifferentiated embryonal sarcoma of the liver also harbors highly recurrent TP53 mutation or copy number loss. Therefore, research at Moffitt Cancer Center provides for the first time a genomic landscape of UESL and describes the cellular consequences of the discovered foundational genomic changes.
Given the central importance of C19MC in UESL development, UESL would be well placed as a model system for further studies on this oncomir with potentially wide applicability of findings across cancer types.
If you’d like to refer a patient to the Sarcoma Program at Moffitt Cancer Center, complete our online form or contacting a physician liaison for assistance. As part of our efforts to shorten referral times as much as possible, online referrals are typically responded to within 24 - 48 hours.