Filip Janku, MD, Ph.D.
Omar Abdel-Wahab, MD
Filip Janku, MD, Ph.D.
Omar Abdel-Wahab, MD
Filip Janku, MD, Ph.D., and Omar Abdel-Wahab, MD were awarded a $50,000 grant for their project, “Understanding and targeting novel molecular alterations in Erdheim-Chester Disease without the BRAFV600E mutation.” This study’s purpose is to discover treatable mutations found in BRAF-negative ECD patients and test in the lab which treatments will work best for them.
Amount: 50,000 USD
Final Report
As part of an international collaboration between Drs. Janku, Omar Abdel-Wahab, and collaborators in France, the first comprehensive genomic analysis of ECD including both whole-exome sequencing (WES) paired with whole transcriptome analysis (by RNA-seq) was performed. This effort identified several recurring activating mutations and fusions in ECD and has since been published/
In addition, WES, RNA-seq, and targeted genomic analysis of ECD and related histiocytosis in the investigators’ clinical practices continue to be performed. To date, we have performed WES in ~40 ECD patients and have identified additional targeted genetic alterations not identified in the above publication.
Furthermore, targeted next-generation sequencing (NGS) or PCR of archival tissue samples and/or blood-derived cell-free (cf) DNA samples from 25 patients treated at MD Anderson and UCSD Moores Cancer Center were performed. Initial data were presented at the Annual ECD International Medical Symposium in September 2016. Since then, the data set has been expanded to include samples from 9 patients treated at the Memorial Sloan Kettering Cancer Center (Dr. Eli Diamond) and 2 additional patients from MD Anderson.