Piotr Remiszewski, Joanna Taczała, Marcin Rosiński, Anna Szumera-Ciećkiewcz, Bartłomiej Szostakowski, Anna M Czarnecka
{"title":"Dermatofibrosarcoma Protuberans (DFSP): Diagnostics and Molecular Pathology.","authors":"Piotr Remiszewski, Joanna Taczała, Marcin Rosiński, Anna Szumera-Ciećkiewcz, Bartłomiej Szostakowski, Anna M Czarnecka","doi":"10.1007/s11864-025-01350-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Opinion statement: </strong>Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade mesenchymal neoplasm that arises in the dermis and subcutaneous tissue. Clinically, DFSP presents as a slow-growing cutaneous plaque or nodular mass that is often initially mistaken for a benign dermatological condition, such as a keloid, a dermatofibroma or morphea. Due to its local aggressiveness and proclivity for subclinical spread and recurrence, accurate diagnosis and complete surgical excision are critical. Although DFSP rarely metastasises, its morbidity primarily stems from locally invasive growth and potential disfigurement due to extensive resections. The pathognomonic COL1A1-PDGFB fusion, which can be detected using fluorescence in situ hybridisation (FISH) or reverse transcription polymerase chain reaction (RT-PCR), sustains autocrine PDGFRβ activation and can be used as a diagnostic marker and a target for the drug imatinib. Emerging genomic studies have revealed additional fusions, such as COL1A2-PDGFB and FBN1-CSAD, as well as mutations, such as CDKN2A/B deletions, that correlate with more aggressive, fibrosarcomatous (FS) variant. We reviewed the diagnostics of DFSP, including histopathology, immunohistochemistry (e.g. CD34, factor XIIIa, S100 and PRAME) as well as clinical presentation and recommended imaging modalities (e.g. ultrasound, MRI and PET/CT). To provide a better understanding of DFSP we discussed the molecular basis of DFSP, including the main genetic drivers and downstream signalling pathways, such as Ras-MAPK, PI3K-Akt and FGFR. Moreover, as there is no definitive staging system for DFSP, we proposed a novel one, integrating the presence of FS differentiation.</p>","PeriodicalId":50600,"journal":{"name":"Current Treatment Options in Oncology","volume":" ","pages":""},"PeriodicalIF":4.7000,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Treatment Options in Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11864-025-01350-4","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Opinion statement: Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade mesenchymal neoplasm that arises in the dermis and subcutaneous tissue. Clinically, DFSP presents as a slow-growing cutaneous plaque or nodular mass that is often initially mistaken for a benign dermatological condition, such as a keloid, a dermatofibroma or morphea. Due to its local aggressiveness and proclivity for subclinical spread and recurrence, accurate diagnosis and complete surgical excision are critical. Although DFSP rarely metastasises, its morbidity primarily stems from locally invasive growth and potential disfigurement due to extensive resections. The pathognomonic COL1A1-PDGFB fusion, which can be detected using fluorescence in situ hybridisation (FISH) or reverse transcription polymerase chain reaction (RT-PCR), sustains autocrine PDGFRβ activation and can be used as a diagnostic marker and a target for the drug imatinib. Emerging genomic studies have revealed additional fusions, such as COL1A2-PDGFB and FBN1-CSAD, as well as mutations, such as CDKN2A/B deletions, that correlate with more aggressive, fibrosarcomatous (FS) variant. We reviewed the diagnostics of DFSP, including histopathology, immunohistochemistry (e.g. CD34, factor XIIIa, S100 and PRAME) as well as clinical presentation and recommended imaging modalities (e.g. ultrasound, MRI and PET/CT). To provide a better understanding of DFSP we discussed the molecular basis of DFSP, including the main genetic drivers and downstream signalling pathways, such as Ras-MAPK, PI3K-Akt and FGFR. Moreover, as there is no definitive staging system for DFSP, we proposed a novel one, integrating the presence of FS differentiation.
期刊介绍:
This journal aims to review the most important, recently published treatment option advances in the field of oncology. By providing clear, insightful, balanced contributions by international experts, the journal intends to facilitate worldwide approaches to cancer treatment.
We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as endocrine tumors, lymphomas, neuro-oncology, and cancers of the breast, head and neck, lung, skin, gastrointestinal tract, and genitourinary region. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. We also provide commentaries from well-known oncologists, and an international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research.