Related Experiment Video
Updated: Aug 18, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Expanding the Spectrum of the Soft Tissue Tumors with Kinase Gene Fusions: A Pediatric Spindle Cell Neoplasm
Fatih Mert Dogukan1, Zeynep Betül Erdem1, Ayca Ersen Danyeli2
1Department of Pathology, Başakşehir Çam ve Sakura City Hospital, University of Health Sciences, Başakşehir, Istanbul, Turkey.
Abstract:
Introduction: NTRK-rearranged spindled cell tumors have been increasingly recognized with the widespread use of molecular studies. We describe a pediatric spindle cell neoplasm with MTAP-RAF1 gene fusion that fits into this group. Case report: An 8-year-old girl presented with mandibular mass. Histopathologically, it was a moderate to increased cellular spindle cell tumor with mild-to-moderate nuclear pleomorphism, focal perivascular keloid-like collagen, that was positive for S-100 and CD34. MTAP-RAF1 fusion was detected by next generation sequencing, confirming a low-grade sarcoma with MTAP-RAF1 fusion that is presently included in the category of NTRK-rearranged spindled cell tumors. Discussion: MTAP-RAF1 fusion, in the spectrum of spindle cell neoplasms with kinase gene rearrangements, can occur in the pediatric age group.
Related Concept Videos
MAPK Signaling Cascades
mTOR Signaling and Cancer Progression
The mTOR pathway or the...
Abnormal Proliferation
The Ras Gene
Ras is a...
Targeted Cancer Therapies
There are several types of targeted therapies against...
PI3K/mTOR/AKT Signaling Pathway

