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Expanding the Spectrum of the Soft Tissue Tumors with Kinase Gene Fusions: A Pediatric Spindle Cell Neoplasm Harboring MTAP-RAF1 Fusion.

Authors :
Dogukan, Fatih Mert
Erdem, Zeynep Betül
Danyeli, Ayca Ersen
Source :
Fetal & Pediatric Pathology. Jun2023, Vol. 42 Issue 3, p512-517. 6p.
Publication Year :
2023

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
15513815
Volume :
42
Issue :
3
Database :
Academic Search Index
Journal :
Fetal & Pediatric Pathology
Publication Type :
Academic Journal
Accession number :
163950518
Full Text :
https://doi.org/10.1080/15513815.2022.2154135