loading page

BRAF fusions in pediatric histiocytic neoplasms define distinct therapeutic responsiveness to RAF paradox breakers
  • +7
  • Payal Jain,
  • Lea Surrey,
  • Joshua Straka,
  • Richard Womer,
  • Marilyn Li,
  • Phillip Storm,
  • Angela Waanders,
  • Michael Hogarty,
  • Adam Resnick,
  • Jennifer Picarsic
Payal Jain
The Children's Hospital of Philadelphia Research Institute

Corresponding Author:[email protected]

Author Profile
Lea Surrey
Children's Hospital of Philadelphia
Author Profile
Joshua Straka
The Children's Hospital of Philadelphia
Author Profile
Richard Womer
Children's Hospital of Philadelphia
Author Profile
Marilyn Li
The Children's Hospital of Philadelphia
Author Profile
Phillip Storm
University of Pennsylvania
Author Profile
Angela Waanders
Ann and Robert H Lurie Children's Hospital of Chicago
Author Profile
Michael Hogarty
Children's Hospital of Philadelphia
Author Profile
Adam Resnick
Children's Hospital of Philadelphia
Author Profile
Jennifer Picarsic
Cincinnati Children's Hospital Medical Center
Author Profile

Abstract

Pediatric histiocytic neoplasms are hematopoietic disorders frequently driven by the BRAF-V600E mutation. Here we identified two BRAF gene fusions (novel MTAP-BRAF and MS4A6A-BRAF) in two aggressive histiocytic neoplasms. In contrast to previously described BRAF fusions, MTAP-BRAF and MS4A6A-BRAF do not respond to the paradox breaker RAF inhibitor (RAFi) PLX8394 due to stable fusion dimerization mediated by the N-terminal fusion partners. This highlights a significant and clinically relevant shift from the current dogma that BRAF-fusions respond similarly to BRAF-inhibitors. As an alternative, we show suppression of fusion-driven oncogenic growth with the pan-RAFi LY3009120 and MEK inhibition.
14 Dec 2020Assigned to Editor
14 Dec 2020Submission Checks Completed
14 Dec 2020Submitted to Pediatric Blood & Cancer
14 Dec 2020Reviewer(s) Assigned
12 Jan 2021Review(s) Completed, Editorial Evaluation Pending
12 Jan 2021Editorial Decision: Accept