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

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

Clinics and Pathology

Disease

Dermatofibrosarcoma protuberans/Bednar tumor/giant cell fibroblastoma

Genes Involved and Proteins

Gene name
COL1A1
Location
17q21.33
Gene name
PDGFB
Location
22q13.1

Highly cited references

Pubmed IDYearTitleCitations
325169212020Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment.124
323166572020Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors.119
396006452024Hotspots and future trends of dermatofibrosarcoma protuberans.107
267793742015Dermatofibrosarcoma protuberans: from translocation to targeted therapy.92
393350972024Dermatofibrosarcoma Protuberans: An Updated Review of the Literature.89
375924482023Extensive analysis of 59 sarcoma-related fusion genes identified pazopanib as a potential inhibitor to COL1A1-PDGFB fusion gene.85
367763132023Pediatric dermatofibrosarcoma protuberans: A clinicopathologic and genetic analysis of 66 cases in the largest institution in Southwest China.62
300146072018Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast.46
352381182022Development and validation of an RNA sequencing panel for gene fusions in soft tissue sarcoma.44
338306702021Novel COL4A1-VEGFD gene fusion in myofibroma.43
112729012000COL1A1-PDGFB fusion transcripts in fibrosarcomatous areas of six dermatofibrosarcomas protuberans.39
373154972023Solitary fibrous tumor of the breast: A case report.39
369283362023Establishing an RNA fusions panel in soft tissue sarcoma with clinical validation.38
376217772023Detection of various fusion genes by one-step RT-PCR and the association with clinicopathological features in 242 cases of soft tissue tumor.38
167315892007Transformed dermatofibrosarcoma protuberans: real time polymerase chain reaction detection of COL1A1-PDGFB fusion transcripts in sarcomatous areas.33
369941962023Case Report: A case of COL1A1-PDGFB fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma.33
337626822021PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans.31
382795102024COL1A1::PDGFB fusion-associated uterine fibrosarcoma: A case report and review of the literature.30
231992632012Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.28
262616532015Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.26
256839932015Dermatofibrosarcoma protuberans: a study of clinical, pathologic, genetic, and therapeutic features in Korean patients.25
319497952018COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans: a useful diagnostic tool and clinicopathological analysis.20
269321482016Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.18
377119742023COL1A1::PDGFB fusion-associated uterine sarcoma and response to Imatinib: A case report.12
319219592020COL1A1-PDGFB fusion uterine fibrosarcoma: A case report with treatment implication.10
364445622022First Case of Allochronic Onset of Two Primary Dermatofibrosarcoma Protuberans Lesions Proved by COL1A1-PDGFB Fusion Gene Analysis.6
333642862020COL1A1-PDGFB fusion uterine sarcoma and its response to Imatinib therapy.4
300206772025Dermatofibrosarcoma Protuberans.0
302972372018[Dermatofibrosarcoma: Management].0
361140302022Uterine sarcomas and rare uterine mesenchymal tumors with malignant potential. Diagnostic guidelines of the French Sarcoma Group and the Rare Gynecological Tumors Group.0
367299342023COL1A1-PDGFB Fusion Associated Fibrosarcoma of the Uterine Corpus: A Case Report and Literature Review.0
343710122021Determination of COL1A1-PDGFB breakpoints by next-generation sequencing in the molecular diagnosis of dermatofibrosarcoma protuberans.0
222850462012Dermatofibrosarcoma protuberans.0
174314122007Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans.0
371159972023COL1A1-PDGFB Fusion Gene Detection Through Bulk RNA-Seq and Transcriptomic Features of Dermatofibrosarcoma Protuberans.0
366179002023[Cryptic COL1A1-PDGFB fusion in dermatofibrosarcoma protuberans: a clinicopathological and genetic analysis].0
355511532023A Case of COL1A1-PDGFB Fusion Uterine Sarcoma.0
378708592024COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation.0
199407482010COL1A1:PDGFB chimeric transcripts are not present in indeterminate fibrohistiocytic lesions of the skin.0
281503342017Application of COL1A1-PDGFB fusion gene detection by fluorescence in situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans.0
357151652022Update on Mesenchymal Lesions of the Lower Female Genital Tract.0
278068492016Dermatofibrosarcoma protuberans: pathology, genetics, and potential therapeutic strategies.0
173975922007[Dermatofibrosarcoma protuberans].0
169809462006Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans.0
105656811999Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues.0
305397292018Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans.0
126610012003Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment.0
362240382022Giant cell fibroblastoma: a case report.0
228425712012A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans.0
179507822008Dermatofibrosarcoma 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
114207092001Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP).0
97390231998Various 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
324603872020Retrospective study of COL1A1-PDGFB fusion gene-positive dermatofibrosarcoma protuberans in Kumamoto University.0
308749102019Current Update on the Molecular Biology of Cutaneous Sarcoma: Dermatofibrosarcoma Protuberans.0
398353922025Fibrosarcomatous 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
325193312021A novel aberration of COL1A1-PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location.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
215701522011Dermatofibrosarcoma protuberans: a clinicopathological, immunohistochemical, genetic (COL1A1-PDGFB), and therapeutic study of low-grade versus high-grade (fibrosarcomatous) tumors.0
299551472018Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions.0
127868372003Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.0
126417792003Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR.0
289885012017Dermatofibrosarcoma protuberans and gastrointestinal stromal tumor as models for targeted therapy in soft tissue sarcomas.0
330998372021NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms.0
390810042024Cellular and molecular landscape of primary dermatofibrosarcoma protuberans: Insights from single-cell RNA sequencing analysis.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
113291462001Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans.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
232072902013Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans.0
97905081998COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans.0
363772702022Dermatofibrosarcoma protuberans of the face: A clinicopathologic and molecular study of 34 cases.0
216451242011Management of dermatofibrosarcoma protuberans with fibrosarcomatous transformation: an evidence-based review of the literature.0
231080232012Primary intrathoracic dermatofibrosarcoma protuberans.0
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.0
196351062009Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications.0
112910712001Growth-inhibitory effect of STI571 on cells transformed by the COL1A1/PDGFB rearrangement.0
356390672022Dermatofibrosarcoma protuberans with unusual presentation in vulva.0
204067302010Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans.0
166815962006Analysis of gene mutations in four cases of dermatofibrosarcoma protuberans.0
211114502011Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays.0
233476522013PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications.0
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.0
245070982013[Pigmented dermatofibrosarcoma protuberance: a clinicopathologic analysis of 7 cases].0
263325102015A Novel Chromosomal Translocation Associated With COL1A2-PDGFB Gene Fusion in Dermatofibrosarcoma Protuberans: PDGF Expression as a New Diagnostic Tool.0
370167432023Platelet-Derived Growth Factor-D Fusion-Positive Dermatofibrosarcoma Protuberans: Case Report of an Atypical Breast Mass and Literature Review.0
160404062005Gene mutation analysis in five cases of dermatofibrosarcoma protuberans using formalin-fixed, paraffin-embedded tissues.0
334440772021Comparative expression profile of CD10 and cyclin D1 in cutaneous histiocytofibroma and dermatofibrosarcoma.0
109633862000A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma.0
323562432020Establishment and characterization of NCC-DFSP3-C1: a novel patient-derived dermatofibrosarcoma protuberans cell line.0
310901312019Dermatomyofibroma-A rare mesenchymal tumor with maintained horripilation.0
383728882024Establishment and characterization of NCC-DFSP5-C1: a novel patient-derived dermatofibrosarcoma protuberans cell line.0
363839792022Dermatofibrosarcoma protuberans im Gesicht: Klinisch-pathologische und molekulare Studie mit 34 Fällen.0
352405492022Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience.0
214849282011Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies.0
262611042016Efficacy and Biological Activity of Imatinib in Metastatic Dermatofibrosarcoma Protuberans (DFSP).0
385486582024Multiple primary dermatofibrosarcoma protuberans tumors in a single patient with chromosomal microarray analysis: A case report and review.0
146435212003Analysis 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
358981612022Successful treatment of metastatic fibrosarcomatous dermatofibrosarcoma protuberans with imatinib mesylate.0
173373872007[From cytogenetics to cytogenomics of dermatofibrosarcoma protuberans family of tumors].0
146334502003[Detection of COL1A1/PDGFB fusion transcripts in dermatofibroscoma protuberans by revers transcriptase-polymerase chain reaction using paraffin-embedded tissues].0
346286652022Dermatofibrosarcoma protuberans with platelet-derived growth factor-D rearrangement; two cases with morphologically distinct presentations.0

Article Bibliography

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

Summary

Fusion gene

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

Note

Non-annotated chromosomal abnormality. Preliminary data :
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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/t(17;22)(q21;q13)-col1a1-pdgfb