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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Chondroid Soft Tissue Tumors With FOS::PABPN1 Fusion: A New Entity? About Two Cases
Jinane Kharmoum1,2, Alexendra Meurgey1,3, Daniel Pissaloux1,3
1Department of Biopathology, Centre Leon Berard, Lyon, France.
Genes, Chromosomes & Cancer
|August 7, 2026
Summary
Researchers identified a novel FOS::PABPN1 gene fusion in two benign chondroid tumors. This discovery expands the understanding of FOS alterations in mesenchymal tumors and suggests a new molecular subtype of chondroid neoplasms.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Chondroid matrix soft tissue tumors present diagnostic challenges.
- Recurrent gene fusions, primarily involving FN1, are known in chondroid neoplasms.
- Molecular diagnostics are crucial for classifying these heterogeneous tumors.
Purpose of the Study:
- To report and characterize two cases of chondroid tumors with a novel FOS::PABPN1 gene fusion.
- To investigate the molecular and histological features of these unique neoplasms.
- To expand the spectrum of FOS-altered mesenchymal tumors.
Main Methods:
- Histopathological examination of tumor samples.
- Immunohistochemistry for specific markers (S100, CD34, FOS, MDM2, HMGA2, PLAG1, desmin).
- RNA sequencing to identify gene fusions and analyze transcriptomic profiles.
Main Results:
- Two young patients presented with small, deep, peri-osseous nodules.
- Histology showed well-circumscribed fibro-cartilaginous and spindle cell areas without atypia.
- RNA sequencing revealed an identical FOS::PABPN1 fusion transcript in both tumors.
- Tumors clustered near synovial chondromatoses and showed WIF1 gene overexpression.
Conclusions:
- The FOS::PABPN1 fusion represents a novel molecular finding in chondroid tumors.
- This fusion defines a potential new molecular subset of benign chondroid neoplasms.
- RNA sequencing is valuable for diagnosing chondroid neoplasms and identifying gene rearrangements (FN1, THBS1, FOS) or IDH1/2 mutations.
- WIF1 overexpression may serve as a diagnostic biomarker.
