PHILADELPHIA (January 8, 2019) — Using next-generation sequencing (NGS) based RNA-sequencing, researchers at Fox Chase Cancer Center identified two new members of MiT family translocation renal cell carcinoma, NEAT1-TFE3 and KAT6A-TFE3.
“This work expands our understanding of MiT family translocation renal cell carcinoma, and could help investigate targeted therapy for this peculiar type of kidney cancer,” said Shuanzeng Wei MD, PhD, assistant professor of pathology at Fox Chase Cancer Center, and corresponding author of the study. The paper appears in Modern Pathology.
“RNA-sequencing is a powerful approach for identifying translocation/rearrangement of solid tumors or hematological malignancies. The targeted RNA fusion NGS assay used in this study consists of 507 of the most well-known cancer-related fusion genes; which covers 7690 exonic regions that are targeted with a total of 21283 probes,” said Jianming Pei, MD, assistant research professor in the Genomic Facility at Fox Chase, and first author of the study. This targeted RNA fusion NGS assay will be provided for patient care soon.
Multiple 5’ fusion partners for TFE3 in MiT family translocation renal cell carcinoma have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15 and RBM10. The newly identified NEAT1-TFE3 and KAT6A-TFE3 fusion genes further emphasize the genetic complexity of this group of renal tumors.
This work was accomplished through close collaboration between the translational laboratory and clinical team, including Joseph R. Testa, PhD, from the Cancer Biology Program, Robert G. Uzzo, MD, chief of Surgical Oncology, and Harry Cooper, MD, Douglas B. Flieder, MD, Jacqueline N. Talarchek, Tahseen Al-Saleem, MD, Essel Dulaimi, MD, Arthur S. Patchefsky, MD, all from the Department of Pathology.
This research was supported by grant P30 CA006927 from the National Cancer Institute, an agency within the National Institutes of Health.