Sclerosing Epithelioid Fibrosarcoma Harboring the EWSR1-CREB3L1 Gene Fusion: The Importance of Molecular Classification in Pediatric Sarcomas.

Rachel OffenbacherSara KaswanLara FabishCarly BarronJana FoxSteven ChinMatija SnuderlAlice LeeDavid M LoebAlissa Baker

Published in: Journal of pediatric hematology/oncology (2024)

SEF is typically identified via genetic testing and recognition of the EWSR1-CREB3L1 gene fusion as well as MUC4 expression via immunohistochemistry. DNA methylation profiling, which has traditionally been used in brain tumors, can also efficiently identify this tumor, and we recommend expanding the use of this technology for difficult to classify pediatric sarcomas.

Keyphrases

genome wide
dna methylation
copy number
high grade
poor prognosis
machine learning
genome wide identification
deep learning
gene expression
single cell
single molecule
genome wide analysis