t(17;22)(q21;q13) COL1A1/PDGFB

2018-01-01   Philippe Dessen , Jean-Loup Huret 

Clinics and Pathology


Dermatofibrosarcoma protuberans/Bednar tumor/giant cell fibroblastoma

Genes Involved and Proteins

Gene name
Gene name

Highly cited references

Pubmed IDYearTitleCitations
204394562010Imatinib mesylate as a preoperative therapy in dermatofibrosarcoma: results of a multicenter phase II study on 25 patients.31
278068492016Dermatofibrosarcoma protuberans: pathology, genetics, and potential therapeutic strategies.30
241735422014Neoadjuvant imatinib in advanced primary or locally recurrent dermatofibrosarcoma protuberans: a multicenter phase II DeCOG trial with long-term follow-up.26
267793742015Dermatofibrosarcoma protuberans: from translocation to targeted therapy.21
215701522011Dermatofibrosarcoma protuberans: a clinicopathological, immunohistochemical, genetic (COL1A1-PDGFB), and therapeutic study of low-grade versus high-grade (fibrosarcomatous) tumors.21
273741032016Antitumor efficacy of the heparan sulfate mimic roneparstat (SST0001) against sarcoma models involves multi-target inhibition of receptor tyrosine kinases.20
262611042016Efficacy and Biological Activity of Imatinib in Metastatic Dermatofibrosarcoma Protuberans (DFSP).20
291040832018Development and Evaluation of a Pan-Sarcoma Fusion Gene Detection Assay Using the NanoString nCounter Platform.19
308772732019Uterine 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.18
205692962011Treatment of advanced dermatofibrosarcoma protuberans with imatinib mesylate with or without surgical resection.18
211282512011Dermatofibrosarcoma protuberans-derived fibrosarcoma: clinical history, biological profile and sensitivity to imatinib.16
283651292017Long-term results of treatment of advanced dermatofibrosarcoma protuberans (DFSP) with imatinib mesylate - The impact of fibrosarcomatous transformation.13
214849282011Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies.12
225673562011Cytogenetics and molecular genetics of myxoid soft-tissue sarcomas.12
216451242011Management of dermatofibrosarcoma protuberans with fibrosarcomatous transformation: an evidence-based review of the literature.11
221537732012Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.11
292405842018Dermatofibrosarcoma Protuberans of Distal Extremities and Acral Sites: A Clinicopathologic Analysis of 27 Cases.10
263325102015A Novel Chromosomal Translocation Associated With COL1A2-PDGFB Gene Fusion in Dermatofibrosarcoma Protuberans: PDGF Expression as a New Diagnostic Tool.10
215592142011Advances in molecular characterization and targeted therapy in dermatofibrosarcoma protuberans.10
198903512010No correlation between the molecular subtype of COL1A1-PDGFB fusion gene and the clinico-histopathological features of dermatofibrosarcoma protuberans.10
325169212020Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment.9
300146072018Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast.9
211114502011Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays.9
330998372021NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms.7
301754682018A novel case of an aggressive superficial spindle cell sarcoma in an adult resembling fibrosarcomatous dermatofibrosarcoma protuberans and harboring an EML4-NTRK3 fusion.7
299551472018Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions.7
285979422017Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients.7
241084322014Four cases of solitary fibrous tumour of the eye and orbit: one with sarcomatous transformation after radiotherapy and one in a 5-year-old child's eyelid.7
239227912013Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing.7
301871662019Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report.6
231992632012Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.6
200619352010Plaque-like CD34-positive dermal fibroma ("medallion-like dermal dendrocyte hamartoma"): clinicopathologic, immunohistochemical, and molecular analysis of 5 cases emphasizing its distinction from superficial, plaque-like dermatofibrosarcoma protuberans.6
323166572020Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors.5
308749102019Current Update on the Molecular Biology of Cutaneous Sarcoma: Dermatofibrosarcoma Protuberans.5
305397292018Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans.5
281503342017Application of COL1A1-PDGFB fusion gene detection by fluorescence in situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans.5
329393442020TMP3-NTRK1 rearranged uterine sarcoma: A case report.4
297605532018A favorable outcome of advanced dermatofibrosarcoma protuberans under treatment with sunitinib after imatinib failure.4
284204852017Subcutaneous dermatofibrosarcoma protuberans, a rare subtype with predilection for the head: A retrospective series of 18 cases.4
289885012017Dermatofibrosarcoma protuberans and gastrointestinal stromal tumor as models for targeted therapy in soft tissue sarcomas.4
245258432014miR-205 down-regulation promotes proliferation of dermatofibrosarcoma protuberans tumor cells by regulating LRP-1 and ERK phosphorylation.4
233476522013PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications.4
236149182013The involvement of fibroblast growth factor receptor signaling pathways in dermatofibroma and dermatofibrosarcoma protuberans.4
222850462012Dermatofibrosarcoma protuberans.4
319219592020COL1A1-PDGFB fusion uterine fibrosarcoma: A case report with treatment implication.3
318708442020Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development.3
289770292017Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans.3
269321482016Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.3
232072902013Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans.3
348751332022Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis.2
337626822021PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans.2
330100512021Dermatofibrosarcoma protuberans, fibrosarcomatous variant: A rare tumor in children.2
324309162020Dermatofibrosarcoma protuberans in children and adolescents: Primary and Relapsed disease-Experience of the Cooperative Weichteilsarkomstudiengruppe (CWS).2
304112732019Establishment of novel patient-derived models of dermatofibrosarcoma protuberans: two cell lines, NCC-DFSP1-C1 and NCC-DFSP2-C1.2
302972372018[Dermatofibrosarcoma: Management].2
294922092018EGFR is involved in dermatofibrosarcoma protuberans progression to high grade sarcoma.2
283811482017EGFR Exon 20 Insertion/Duplication Mutation in Fibrous Hamartoma of Infancy With Predominantly Pseudoangiomatous Pattern Mimicking Giant Cell Fibroblastoma.2
263557642016Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features.2
262616532015Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.2
256839932015Dermatofibrosarcoma protuberans: a study of clinical, pathologic, genetic, and therapeutic features in Korean patients.2
234320992013Dermatofibrosarcoma protuberans in childhood treated with slow Mohs micrographic surgery.2
352381182022Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma.1
300206772022Dermatofibrosarcoma Protuberans1
338306702021Novel COL4A1-VEGFD gene fusion in myofibroma.1
329566512021A Multicenter Phase II Study of Pazopanib in Patients with Unresectable Dermatofibrosarcoma Protuberans.1
324603872020Retrospective study of COL1A1-PDGFB fusion gene-positive dermatofibrosarcoma protuberans in Kumamoto University.1
254107042015Biphasic dermatofibrosarcoma protuberans with a labyrinthine plexiform high-grade fibrosarcomatous transformation.1
245070982013[Pigmented dermatofibrosarcoma protuberance: a clinicopathologic analysis of 7 cases].1
231080232012Primary intrathoracic dermatofibrosarcoma protuberans.1
225233392012The molecular characterisation of unusual subcutaneous spindle cell lesion of breast.1
228425712012A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans.1
356737222022[Clinicopathological characteristics and molecular alterations of primary cardiac leiomyosarcoma: report of five cases].0
354967322022Myoid differentiation in dermatofibrosarcoma protuberans and its fibrosarcomatous variant: 10 years' experience in a tertiary hospital.0
351713262022Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion.0
358981612022Successful treatment of metastatic fibrosarcomatous dermatofibrosarcoma protuberans with imatinib mesylate.0
350340382022Molecular Characterization of Dermatofibrosarcoma Protuberans: The Clinicopathologic Significance of Uncommon Fusion Gene Rearrangements and Their Diagnostic Importance in the Exclusively Subcutaneous and Circumscribed Lesions.0
357151652022Update on Mesenchymal Lesions of the Lower Female Genital Tract.0
355511532022A Case of COL1A1-PDGFB Fusion Uterine Sarcoma.0
352405492022Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience.0
346286652022Dermatofibrosarcoma protuberans with platelet-derived growth factor-D rearrangement; two cases with morphologically distinct presentations.0
334440772021Comparative expression profile of CD10 and cyclin D1 in cutaneous histiocytofibroma and dermatofibrosarcoma.0
356390672022Dermatofibrosarcoma protuberans with unusual presentation in vulva.0
343710122021Determination of COL1A1-PDGFB breakpoints by next-generation sequencing in the molecular diagnosis of dermatofibrosarcoma protuberans.0
325193312021A novel aberration of COL1A1-PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location.0
342567672021Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report.0
323562432020Establishment and characterization of NCC-DFSP3-C1: a novel patient-derived dermatofibrosarcoma protuberans cell line.0
324930252020Dermatofibrosarcoma protuberans with fibrosarcomatous transformation: a case report.0
333642862020COL1A1-PDGFB fusion uterine sarcoma and its response to Imatinib therapy.0
310901312019Dermatomyofibroma-A rare mesenchymal tumor with maintained horripilation.0
313535042019Case of two lesions of dermatofibrosarcoma protuberans revealing identical COL1A1-PDGFB fusion gene: Skin metastasis or multicentric lesions?0
309195922019Fine-needle aspiration of dermatofibrosarcoma protuberans metastasizing to hemithorax with superior vena cava compression: Case report and literature review.0
301559082018Review 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
291408812018PDGFB Rearrangements in Dermatofibrosarcoma Protuberans of the Vulva: A Study of 11 Cases Including Myxoid and Fibrosarcomatous Variants.0
319497952018COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans: a useful diagnostic tool and clinicopathological analysis.0
269558972016An unusual presentation of dermatofibrosarcoma protuberans with pleomorphic sarcomatous transformation: potential pitfall and diagnostic strategy.0
247036422014[Atypical histiocytoma in a child].0
223355952012Pseudocystic dermatofibrosarcoma protuberans: report of two cases and demonstration of COL1A1-PDGFB rearrangement.0
216778892011Rapid Growth of Dermatofibrosarcoma Protuberans Associated with Bilateral Adrenalectomy for Cushing's Syndrome.0
204067302010Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans.0
199407482010COL1A1:PDGFB chimeric transcripts are not present in indeterminate fibrohistiocytic lesions of the skin.0


Pubmed IDLast YearTitleAuthors
198903512010No correlation between the molecular subtype of COL1A1-PDGFB fusion gene and the clinico-histopathological features of dermatofibrosarcoma protuberans.Giacchero D et al


Fusion gene

COL1A1/PDGFB COL1A1 (17q21.33) PDGFB (22q13.1)


Non-annotated chromosomal abnormality. Preliminary data :
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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/t(17;22)(q21;q13)