ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Hotspots and future trends of dermatofibrosarcoma protuberans.Frontiers in oncology · 2024Pooled it
- Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape.The FEBS journal · 2026Review
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Novel FGL2::PDGFD and TGFBI::PDGFB Fusions Expand the Molecular Spectrum of Dermatofibrosarcoma Protuberans.Genes, chromosomes & cancer · 2026Article
- Dermatofibrosarcoma Protuberans (DFSP): Diagnostics and Molecular Pathology.Current treatment options in oncology · 2025Review
- Dermatofibrosarcoma protuberans with PDGFD rearrangements: a case series featuring a novel EMILIN1::PDGFD fusion and comprehensive literature review.Virchows Archiv : an international journal of pathology · 2025Review
- Clinicopathological and molecular analysis of a dermatofibrosarcoma protuberans with fibrosarcomatous transformation in the breast.NPJ precision oncology · 2025Article
- Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms.Virchows Archiv : an international journal of pathology · 2024Review
- Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.Genes, chromosomes & cancer · 2024Article
- An update on selected cutaneous (myo) fibroblastic mesenchymal tumors.Seminars in diagnostic pathology · 2023Review
- Outcome After Surgical Treatment of Dermatofibrosarcoma Protuberans (DFSP): Does it Require Extensive Follow-up and What is an Adequate Resection Margin?Annals of surgical oncology · 2023Article
- Progressive insights into fibrosarcoma diagnosis and treatment: leveraging fusion genes for advancements.Frontiers in cell and developmental biology · 2023Review
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- Pediatric dermatofibrosarcoma protuberans: A clinicopathologic and genetic analysis of 66 cases in the largest institution in Southwest China.Frontiers in oncology · 2023Article
- Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion.Virchows Archiv : an international journal of pathology · 2022Article
- Detection of sarcoma fusions by a next-generation sequencing based-ligation-dependent multiplex RT-PCR assay.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Comprehensive analysis of transcriptome characteristics and identification ofFrontiers in genetics · 2022Article
- PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Update on Superficial Spindle Cell Mesenchymal Tumors in Children.Dermatopathology (Basel, Switzerland) · 2021Review
- Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report.Diagnostic pathology · 2021Article
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Authors and funding
26 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dermatofibrosarcoma protuberans is underlined by recurrent collagen type I alpha 1 chain-platelet-derived growth factor B chain (COL1A1-PDGFB) fusions but ~ 4% of typical dermatofibrosarcoma protuberans remain negative for this translocation in routine molecular screening. We investigated a series of 21 cases not associated with the pathognomonic COL1A1-PDGFB fusion on routine fluorescence in situ hybridization (FISH) testing. All cases displayed morphological and clinical features consistent with the diagnosis of dermatofibrosarcoma protuberans. RNA-sequencing analysis was successful in 20 cases. The classical COL1A1-PDGFB fusion was present in 40% of cases (n = 8/20), and subsequently confirmed with a COL1A1 break-apart FISH probe in all but one case (n = 7/8). 55% of cases (n = 11/20) displayed novel PDGFD rearrangements; PDGFD being fused either to the 5' part of COL6A3 (2q37.3) (n = 9/11) or EMILIN2 (18p11) (n = 2/11). All rearrangements led to in-frame fusion transcripts and were confirmed at genomic level by FISH and/or array-comparative genomic hybridization. PDGFD-rearranged dermatofibrosarcoma protuberans presented clinical outcomes similar to typical dermatofibrosarcoma protuberans. Notably, the two EMILIN2-PDGFD cases displayed fibrosarcomatous transformation and homozygous deletions of CDKN2A at genomic level. We report the first recurrent molecular variant of dermatofibrosarcoma protuberans involving PDGFD, which functionally mimic bona fide COL1A1-PDGFB fusions, leading presumably to a similar autocrine loop-stimulating PDGFRB. This study also emphasizes that COL1A1-PDGFB fusions can be cytogenetically cryptic on FISH testing in a subset of cases, thereby representing a diagnostic pitfall that pathologists should be aware of.
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