Clinics and Pathology
Disease
Dermatofibrosarcoma protuberans/Bednar tumor/giant cell fibroblastoma
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32516921 | 2020 | Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment. | 124 |
| 32316657 | 2020 | Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors. | 119 |
| 39600645 | 2024 | Hotspots and future trends of dermatofibrosarcoma protuberans. | 107 |
| 26779374 | 2015 | Dermatofibrosarcoma protuberans: from translocation to targeted therapy. | 92 |
| 39335097 | 2024 | Dermatofibrosarcoma Protuberans: An Updated Review of the Literature. | 89 |
| 37592448 | 2023 | Extensive analysis of 59 sarcoma-related fusion genes identified pazopanib as a potential inhibitor to COL1A1-PDGFB fusion gene. | 85 |
| 36776313 | 2023 | Pediatric dermatofibrosarcoma protuberans: A clinicopathologic and genetic analysis of 66 cases in the largest institution in Southwest China. | 62 |
| 30014607 | 2018 | Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast. | 46 |
| 35238118 | 2022 | Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma. | 44 |
| 33830670 | 2021 | Novel COL4A1-VEGFD gene fusion in myofibroma. | 43 |
| 11272901 | 2000 | COL1A1-PDGFB fusion transcripts in fibrosarcomatous areas of six dermatofibrosarcomas protuberans. | 39 |
| 37315497 | 2023 | Solitary fibrous tumor of the breast: A case report. | 39 |
| 36928336 | 2023 | Establishing an RNA fusions panel in soft tissue sarcoma with clinical validation. | 38 |
| 37621777 | 2023 | Detection of various fusion genes by one-step RT-PCR and the association with clinicopathological features in 242 cases of soft tissue tumor. | 38 |
| 16731589 | 2007 | Transformed dermatofibrosarcoma protuberans: real time polymerase chain reaction detection of COL1A1-PDGFB fusion transcripts in sarcomatous areas. | 33 |
| 36994196 | 2023 | Case Report: A case of COL1A1-PDGFB fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma. | 33 |
| 33762682 | 2021 | PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans. | 31 |
| 38279510 | 2024 | COL1A1::PDGFB fusion-associated uterine fibrosarcoma: A case report and review of the literature. | 30 |
| 23199263 | 2012 | Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement. | 28 |
| 26261653 | 2015 | Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair. | 26 |
| 25683993 | 2015 | Dermatofibrosarcoma protuberans: a study of clinical, pathologic, genetic, and therapeutic features in Korean patients. | 25 |
| 31949795 | 2018 | COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans: a useful diagnostic tool and clinicopathological analysis. | 20 |
| 26932148 | 2016 | Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement. | 18 |
| 37711974 | 2023 | COL1A1::PDGFB fusion-associated uterine sarcoma and response to Imatinib: A case report. | 12 |
| 31921959 | 2020 | COL1A1-PDGFB fusion uterine fibrosarcoma: A case report with treatment implication. | 10 |
| 36444562 | 2022 | First Case of Allochronic Onset of Two Primary Dermatofibrosarcoma Protuberans Lesions Proved by COL1A1-PDGFB Fusion Gene Analysis. | 6 |
| 33364286 | 2020 | COL1A1-PDGFB fusion uterine sarcoma and its response to Imatinib therapy. | 4 |
| 30020677 | 2025 | Dermatofibrosarcoma Protuberans. | 0 |
| 30297237 | 2018 | [Dermatofibrosarcoma: Management]. | 0 |
| 36114030 | 2022 | Uterine sarcomas and rare uterine mesenchymal tumors with malignant potential. Diagnostic guidelines of the French Sarcoma Group and the Rare Gynecological Tumors Group. | 0 |
| 36729934 | 2023 | COL1A1-PDGFB Fusion Associated Fibrosarcoma of the Uterine Corpus: A Case Report and Literature Review. | 0 |
| 34371012 | 2021 | Determination of COL1A1-PDGFB breakpoints by next-generation sequencing in the molecular diagnosis of dermatofibrosarcoma protuberans. | 0 |
| 22285046 | 2012 | Dermatofibrosarcoma protuberans. | 0 |
| 17431412 | 2007 | Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. | 0 |
| 37115997 | 2023 | COL1A1-PDGFB Fusion Gene Detection Through Bulk RNA-Seq and Transcriptomic Features of Dermatofibrosarcoma Protuberans. | 0 |
| 36617900 | 2023 | [Cryptic COL1A1-PDGFB fusion in dermatofibrosarcoma protuberans: a clinicopathological and genetic analysis]. | 0 |
| 35551153 | 2023 | A Case of COL1A1-PDGFB Fusion Uterine Sarcoma. | 0 |
| 37870859 | 2024 | COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation. | 0 |
| 19940748 | 2010 | COL1A1:PDGFB chimeric transcripts are not present in indeterminate fibrohistiocytic lesions of the skin. | 0 |
| 28150334 | 2017 | Application of COL1A1-PDGFB fusion gene detection by fluorescence in situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans. | 0 |
| 35715165 | 2022 | Update on Mesenchymal Lesions of the Lower Female Genital Tract. | 0 |
| 27806849 | 2016 | Dermatofibrosarcoma protuberans: pathology, genetics, and potential therapeutic strategies. | 0 |
| 17397592 | 2007 | [Dermatofibrosarcoma protuberans]. | 0 |
| 16980946 | 2006 | Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. | 0 |
| 10565681 | 1999 | Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues. | 0 |
| 30539729 | 2018 | Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans. | 0 |
| 12661001 | 2003 | Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. | 0 |
| 36224038 | 2022 | Giant cell fibroblastoma: a case report. | 0 |
| 22842571 | 2012 | A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans. | 0 |
| 17950782 | 2008 | Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. | 0 |
| 11420709 | 2001 | Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP). | 0 |
| 9739023 | 1998 | Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas. | 0 |
| 32460387 | 2020 | Retrospective study of COL1A1-PDGFB fusion gene-positive dermatofibrosarcoma protuberans in Kumamoto University. | 0 |
| 30874910 | 2019 | Current Update on the Molecular Biology of Cutaneous Sarcoma: Dermatofibrosarcoma Protuberans. | 0 |
| 39835392 | 2025 | Fibrosarcomatous Dermatofibrosarcoma Protuberans With COL1A1-PDGFB Fusion in a 2-Year-Old Child: A Rare Occurrence With Spectrum of Histopathological Findings and Review of Literature. | 0 |
| 32519331 | 2021 | A novel aberration of COL1A1-PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location. | 0 |
| 30155908 | 2018 | Review of the medical literature and assessment of current utilization patterns regarding the use of two common fluorescence in situ hybridization assays in the diagnosis of dermatofibrosarcoma protuberans and clear cell sarcoma. | 0 |
| 21570152 | 2011 | Dermatofibrosarcoma protuberans: a clinicopathological, immunohistochemical, genetic (COL1A1-PDGFB), and therapeutic study of low-grade versus high-grade (fibrosarcomatous) tumors. | 0 |
| 29955147 | 2018 | Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions. | 0 |
| 12786837 | 2003 | Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript. | 0 |
| 12641779 | 2003 | Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. | 0 |
| 28988501 | 2017 | Dermatofibrosarcoma protuberans and gastrointestinal stromal tumor as models for targeted therapy in soft tissue sarcomas. | 0 |
| 33099837 | 2021 | NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms. | 0 |
| 39081004 | 2024 | Cellular and molecular landscape of primary dermatofibrosarcoma protuberans: Insights from single-cell RNA sequencing analysis. | 0 |
| 35034038 | 2022 | Molecular Characterization of Dermatofibrosarcoma Protuberans: The Clinicopathologic Significance of Uncommon Fusion Gene Rearrangements and Their Diagnostic Importance in the Exclusively Subcutaneous and Circumscribed Lesions. | 0 |
| 11329146 | 2001 | Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans. | 0 |
| 35171326 | 2022 | Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion. | 0 |
| 23207290 | 2013 | Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans. | 0 |
| 9790508 | 1998 | COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. | 0 |
| 36377270 | 2022 | Dermatofibrosarcoma protuberans of the face: A clinicopathologic and molecular study of 34 cases. | 0 |
| 21645124 | 2011 | Management of dermatofibrosarcoma protuberans with fibrosarcomatous transformation: an evidence-based review of the literature. | 0 |
| 23108023 | 2012 | Primary intrathoracic dermatofibrosarcoma protuberans. | 0 |
| 31870844 | 2020 | Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development. | 0 |
| 19635106 | 2009 | Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications. | 0 |
| 11291071 | 2001 | Growth-inhibitory effect of STI571 on cells transformed by the COL1A1/PDGFB rearrangement. | 0 |
| 35639067 | 2022 | Dermatofibrosarcoma protuberans with unusual presentation in vulva. | 0 |
| 20406730 | 2010 | Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans. | 0 |
| 16681596 | 2006 | Analysis of gene mutations in four cases of dermatofibrosarcoma protuberans. | 0 |
| 21111450 | 2011 | Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays. | 0 |
| 23347652 | 2013 | PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications. | 0 |
| 30877273 | 2019 | Uterine and vaginal sarcomas resembling fibrosarcoma: a clinicopathological and molecular analysis of 13 cases showing common NTRK-rearrangements and the description of a COL1A1-PDGFB fusion novel to uterine neoplasms. | 0 |
| 24507098 | 2013 | [Pigmented dermatofibrosarcoma protuberance: a clinicopathologic analysis of 7 cases]. | 0 |
| 26332510 | 2015 | A Novel Chromosomal Translocation Associated With COL1A2-PDGFB Gene Fusion in Dermatofibrosarcoma Protuberans: PDGF Expression as a New Diagnostic Tool. | 0 |
| 37016743 | 2023 | Platelet-Derived Growth Factor-D Fusion-Positive Dermatofibrosarcoma Protuberans: Case Report of an Atypical Breast Mass and Literature Review. | 0 |
| 16040406 | 2005 | Gene mutation analysis in five cases of dermatofibrosarcoma protuberans using formalin-fixed, paraffin-embedded tissues. | 0 |
| 33444077 | 2021 | Comparative expression profile of CD10 and cyclin D1 in cutaneous histiocytofibroma and dermatofibrosarcoma. | 0 |
| 10963386 | 2000 | A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma. | 0 |
| 32356243 | 2020 | Establishment and characterization of NCC-DFSP3-C1: a novel patient-derived dermatofibrosarcoma protuberans cell line. | 0 |
| 31090131 | 2019 | Dermatomyofibroma-A rare mesenchymal tumor with maintained horripilation. | 0 |
| 38372888 | 2024 | Establishment and characterization of NCC-DFSP5-C1: a novel patient-derived dermatofibrosarcoma protuberans cell line. | 0 |
| 36383979 | 2022 | Dermatofibrosarcoma protuberans im Gesicht: Klinisch-pathologische und molekulare Studie mit 34 Fällen. | 0 |
| 35240549 | 2022 | Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience. | 0 |
| 21484928 | 2011 | Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies. | 0 |
| 26261104 | 2016 | Efficacy and Biological Activity of Imatinib in Metastatic Dermatofibrosarcoma Protuberans (DFSP). | 0 |
| 38548658 | 2024 | Multiple primary dermatofibrosarcoma protuberans tumors in a single patient with chromosomal microarray analysis: A case report and review. | 0 |
| 14643521 | 2003 | Analysis of gene mutations in three cases of dermatofibrosarcoma protuberans (DFSP): ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS. | 0 |
| 35898161 | 2022 | Successful treatment of metastatic fibrosarcomatous dermatofibrosarcoma protuberans with imatinib mesylate. | 0 |
| 17337387 | 2007 | [From cytogenetics to cytogenomics of dermatofibrosarcoma protuberans family of tumors]. | 0 |
| 14633450 | 2003 | [Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase chain reaction using paraffin-embedded tissues]. | 0 |
| 34628665 | 2022 | Dermatofibrosarcoma protuberans with platelet-derived growth factor-D rearrangement; two cases with morphologically distinct presentations. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 19890351 | 2010 | No correlation between the molecular subtype of COL1A1-PDGFB fusion gene and the clinico-histopathological features of dermatofibrosarcoma protuberans. | Giacchero D et al |
Summary
Fusion gene
COL1A1/PDGFB COL1A1 (17q21.33) PDGFB (22q13.1)
Note
Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to How to contribute
if you are an author who wish to write a full paper/card on this translocation,go to How to contribute
Citation
Philippe Dessen ; Jean-Loup Huret
t(17;22)(q21;q13) COL1A1/PDGFB
Atlas Genet Cytogenet Oncol Haematol. 2018-01-01
Online version: http://atlasgeneticsoncology.org/haematological/2618/cancer-prone-explorer/new-content/meetings/
