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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2025; 13(33): 113167
Published online Nov 26, 2025. doi: 10.12998/wjcc.v13.i33.113167
Published online Nov 26, 2025. doi: 10.12998/wjcc.v13.i33.113167
Beyond COL1A1::PDGFB: Rare fusions and their clinical implications in dermatofibrosarcoma protuberans
Sumanta Das, Sunita Ahlawat, Department of Pathology, Agilus Diagnostics Ltd, Fortis Memorial Research Institute, Gurugram 122002, Haryana, India
Sumanta Das, Department of Pathology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong 793018, Meghālaya, India
Author contributions: Das S was responsible for the concept of the editorial manuscript, writing, and interpretation; Das S and Ahlawat S contributed to editing, data collection, and review.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sumanta Das, MD, Consultant Pathologist, Department of Pathology, Agilus Diagnostics Ltd, Fortis Memorial Research Institute, Sector 44, Opposite Millenium City Center Metro Station, Gurugram 122002, Haryana, India. sumantad755@gmail.com
Received: August 18, 2025
Revised: August 29, 2025
Accepted: October 20, 2025
Published online: November 26, 2025
Processing time: 96 Days and 10.6 Hours
Revised: August 29, 2025
Accepted: October 20, 2025
Published online: November 26, 2025
Processing time: 96 Days and 10.6 Hours
Core Tip
Core Tip: Apart from canonical COL1A1::PDGFB fusion, dermtofibrosarcoma harbors an expanding spectrum of gene fusions, which include COL1A2::PDGFB, COL6A3::PDGFD, EMILIN2::PDGFD, TNC::PDGFD, FBN1::CSAD, MAP3K7CL::ERG, SLC2A5::BTBD7, and LARGE1::PRKCA, which influence tumor biology, therapeutic response to treatment, and disease prognosis. Since molecular techniques like fluorescence in situ hybridization and polymerase chain reaction can miss these variants, a comprehensive genomic profiling, like next-generation sequencing or ribonucleic acid sequencing, is necessary for correct diagnosis, risk stratification, and eligibility for personalized medicine, particularly in morphologically challenging fibrosarcomatous variants.