18 results on '"COL1A1/PDGFB Fusion Gene"'
Search Results
2. Rapid Growth of Dermatofibrosarcoma Protuberans Associated with Bilateral Adrenalectomy for Cushing’s Syndrome
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Sadanori Furudate, Taku Fujimura, Akira Hashimoto, and Setsuya Aiba
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Bilateral adrenalectomy ,COL1A1/PDGFB fusion gene ,Cushingߣs syndrome ,Dermatofibrosarcoma protuberans ,Dermatology ,RL1-803 - Abstract
We describe a 50-year-old Japanese patient with dermatofibrosarcoma protuberans (DFSP) rapidly growing after bilateral adrenalectomy for Cushing’s syndrome that reduced the serum level of cortisol from 17.1 to 0.8 mg/dl. It is known that glucocorticoids decrease the transcriptions of the COL1A1 gene and the PDGFB gene, which is under the direct control of the COL1A1 gene in most DFSP. Therefore, the hypersecretion of glucocorticoids in Cushing’s syndrome might suppress the development of DFSP. To the best of our knowledge, this is the first case of rapid growth of DFSP that may be associated with bilateral adrenalectomy for Cushing’s syndrome. more...
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- 2011
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Catalog
3. Determination of COL1A1-PDGFB breakpoints by next-generation sequencing in the molecular diagnosis of dermatofibrosarcoma protuberans
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Ruizheng Zhu, Yun Bai, Yeqiang Liu, Lingzhi Fan, Juan Shen, Yichen Tang, Lixia Ding, Benshang Li, Fei Tan, Wannian Yan, Jianna Yan, and Yuchong Chen
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Adult ,Male ,Adolescent ,Oncogene Proteins, Fusion ,Clinical Biochemistry ,Computational biology ,Biology ,DNA sequencing ,Translocation, Genetic ,Pathology and Forensic Medicine ,Fusion gene ,symbols.namesake ,Exon ,Chromosome Breakpoints ,Young Adult ,medicine ,Dermatofibrosarcoma protuberans ,Humans ,Pathology, Molecular ,Child ,Molecular Biology ,In Situ Hybridization, Fluorescence ,Aged ,Sanger sequencing ,PDGFB ,medicine.diagnostic_test ,Dermatofibrosarcoma ,High-Throughput Nucleotide Sequencing ,Proto-Oncogene Proteins c-sis ,Middle Aged ,medicine.disease ,Collagen Type I, alpha 1 Chain ,COL1A1/PDGFB Fusion Gene ,symbols ,Female ,Fluorescence in situ hybridization - Abstract
Objective In most cases, dermatofibrosarcoma protuberans (DFSP) is characterized by the chromosomal translocation t (17; 22) (q22; q13) that leads to a fusion of collagen type 1 alpha 1 (COL1A1) and platelet-derived growth factor beta chain (PDGFB). Recently, next-generation sequencing (NGS) has been reported to detect fusion transcripts in some malignancies. Therefore, the present study aimed to evaluate the utility of the targeted NGS in detecting the COL1A1–PDGFB fusion in patients with DFSP. Methods We designed a targeted DNA capture panel to tile along the fusion regions, including exon, intron, and untranslated regions of the COL1A1 and PDGFB. A cohort of 18 DNA samples extracted from formalin-fixed, paraffin-embedded tissues was used to evaluate the targeted NGS. The results were compared with that of fluorescence in situ hybridization (FISH). Results The COL1A1–PDGFB fusion was identified in 13 of 18 cases (72.2%) by targeted NGS assay. PDGFB breakpoints were constantly found in exon 2, while breakpoints in COL1A1 varied from exon 15 to 46. Of these 18 cases assayed by FISH, 12 (66.7%) exhibited COL1A1–PDGFB fusion signals. One case (P9), which was FISH-negative, was demonstrated with the fusion by targeted NGS and validated by PCR and Sanger sequencing. The targeted NGS results showed a high concordance with the results of the FISH assay (94.4%). Conclusion Our study reported a targeted NGS assay for detecting the breakpoints of the COL1A1–PDGFB fusion gene, which can be implemented in diagnosing patients with DFSP. more...
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- 2021
4. A case of massive dermatofibrosarcoma protuberans with multiple breakpoints of a COL1A1-PDGFB fusion gene
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Shinya Kashiwagi, Sumiyuki Mii, Ayami Haruki, Saori Iwakawa, Yasuyuki Amoh, Mamiko Masuzawa, and Yuko Hamada
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Breakpoint ,COL1A1/PDGFB Fusion Gene ,Cancer research ,Dermatofibrosarcoma protuberans ,medicine ,General Medicine ,Biology ,medicine.disease - Published
- 2019
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5. Case of two lesions of dermatofibrosarcoma protuberans revealing identical COL1A1-PDGFB fusion gene: Skin metastasis or multicentric lesions?
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Chihiro Takemori, Tamotsu Sudo, Makoto Kunisada, Daisuke Yokoyama, Chikako Nishigori, Korefumi Nakamura, and Syoko Tajima
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Pathology ,medicine.medical_specialty ,business.industry ,COL1A1/PDGFB Fusion Gene ,Dermatofibrosarcoma protuberans ,Medicine ,Dermatology ,General Medicine ,business ,Skin metastasis ,medicine.disease - Published
- 2019
6. Retrospective study of COL1A1‐PDGFB fusion gene‐positive dermatofibrosarcoma protuberans in Kumamoto University
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Jun Aoi, K. Makino, Takamitsu Makino, Hisashi Kanemaru, Saki Otsuka-Maeda, Satoshi Fukushima, I. Kajihara, Hironobu Ihn, and Soichiro Sawamura
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Adult ,Male ,Oncology ,medicine.medical_specialty ,Skin Neoplasms ,Oncogene Proteins, Fusion ,Universities ,Dermatology ,Collagen Type I ,Chromosome Breakpoints ,Japan ,Internal medicine ,medicine ,Dermatofibrosarcoma protuberans ,Humans ,Aged ,Retrospective Studies ,Platelet-Derived Growth Factor ,business.industry ,Dermatofibrosarcoma ,Retrospective cohort study ,Exons ,Middle Aged ,medicine.disease ,Collagen Type I, alpha 1 Chain ,COL1A1/PDGFB Fusion Gene ,Female ,business - Published
- 2020
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7. 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
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Felix Haglund, Fredrik Mertens, Linda Magnusson, Jan Köster, Nils Mandahl, Björn Viklund, Anders Isaksson, Jakob Hofvander, Henrik C. F. Bauer, and Elsa Arbajian
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Adult ,G2 Phase ,Male ,Cancer Research ,Skin Neoplasms ,Adolescent ,Oncogene Proteins, Fusion ,Chromosomes, Human, Pair 22 ,Ring chromosome ,Chromosomal translocation ,Biology ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Translocation mechanisms ,Genetics ,Dermatofibrosarcoma protuberans ,medicine ,Humans ,Child ,Fusion ,Molecular Biology ,Aged ,Skin ,Medicinsk genetik ,Cancer och onkologi ,medicine.diagnostic_test ,Gene Expression Profiling ,Dermatofibrosarcoma ,Infant ,Chromosome ,Karyotype ,Genomics ,Middle Aged ,medicine.disease ,Gene Expression Regulation, Neoplastic ,SNP-array ,Child, Preschool ,030220 oncology & carcinogenesis ,Cancer and Oncology ,COL1A1/PDGFB Fusion Gene ,Female ,RNA-seq ,Medical Genetics ,Chromosomes, Human, Pair 17 ,SNP array ,Fluorescence in situ hybridization - Abstract
The dermatofibrosarcoma protuberans family of tumors (DPFT) comprises cutaneous soft tissue neoplasms associated with aberrant PDGFBR signaling, typically through a COL1A1-PDGFB fusion. The aim of the present study was to obtain a better understanding of the chromosomal origin of this fusion and to assess the spectrum of secondary mutations at the chromosome and nucleotide levels. We thus investigated 42 tumor samples from 35 patients using chromosome banding, fluorescence in situ hybridization, single nucleotide polymorphism arrays, and/or massively parallel sequencing (gene panel, whole exome and transcriptome sequencing) methods. We confirmed the age-associated differences in the origin of the COL1A1-PDGFB fusion and could show that it in most cases must arise after DNA synthesis, i.e., in the S or G2 phase of the cell cycle. Whereas there was a non-random pattern of secondary chromosomal rearrangements, single nucleotide variants seem to have little impact on tumor progression. No clear genomic differences between low-grade and high-grade DPFT were found, but the number of chromosomes and chromosomal imbalances as well as the frequency of 9p deletions all tended to be greater among the latter. Gene expression profiling of tumors with COL1A1-PDGFB fusions associated with unbalanced translocations or ring chromosomes identified several transcriptionally up-regulated genes in the amplified regions of chromosomes 17 and 22, including TBX2, PRKCA, MSI2, SOX9, SOX10, and PRAME. more...
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- 2020
8. Application ofCOL1A1-PDGFBfusion gene detection by fluorescencein situhybridization in biopsy tissue of dermatofibrosarcoma protuberans
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Huijiao Chen, Hongying Zhang, Yiying Wang, Zhang Zhang, Min Chen, and Xin He
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Adult ,Male ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,Oncogene Proteins, Fusion ,Biopsy ,CD34 ,Dermatology ,Collagen Type I ,Translocation, Genetic ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Biomarkers, Tumor ,Dermatofibrosarcoma protuberans ,Humans ,Medicine ,In Situ Hybridization, Fluorescence ,Aged ,Fibrosarcomatous Dermatofibrosarcoma Protuberans ,PDGFB ,medicine.diagnostic_test ,business.industry ,Soft tissue sarcoma ,Dermatofibrosarcoma ,Proto-Oncogene Proteins c-sis ,General Medicine ,Middle Aged ,medicine.disease ,Collagen Type I, alpha 1 Chain ,030104 developmental biology ,030220 oncology & carcinogenesis ,COL1A1/PDGFB Fusion Gene ,Female ,business ,Fluorescence in situ hybridization - Abstract
Several uncommon variants of dermatofibrosarcoma protuberans (DFSP) and the limitations of small biopsies render pathological diagnosis difficult. The aim of this study was to analyze the utility of fluorescence in situ hybridization (FISH) in the detection of the collagen type I-α1/platelet derived growth factor-β (COL1A1-PDGFB) fusion gene in biopsies of DFSP. Twenty-three consecutive biopsy specimens of DFSP were reviewed for clinicopathological features and examined with the COL1A1-PDGFB fusion probe and PDGFB break-apart probe using FISH analysis. The 23 tumor samples consisted of 11 males and 12 females (mean age at diagnosis, 37 years; range, 14-75 years). Eighteen conventional DFSP, one Bednar tumor, two myxoid DFSP and two fibrosarcomatous DFSP samples were included in the group. Strong and extensive CD34 expression was observed in 19 of 23 cases (83%). Twenty-one cases (91%) were positive for both the COL1A1-PDGFB fusion signal and the PDGFB break-apart signal. This is one of the few studies to demonstrate the value of FISH analysis of the COL1A1-PDGFB gene, which could validate complicated and suspected diagnoses in the routine biopsy of DFSP. more...
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- 2017
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9. Biphasic dermatofibrosarcoma protuberans with a labyrinthine plexiform high‐grade fibrosarcomatous transformation
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Carlos Monteagudo, Onofre Sanmartín, José Antonio López-Guerrero, Beatriz Llombart, Silvia Calabuig, Luis Rubio, and Octavio Burgues
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Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Histology ,Oncogene Proteins, Fusion ,Fibrosarcoma ,CD34 ,Dermatology ,Biology ,Pathology and Forensic Medicine ,medicine ,Dermatofibrosarcoma protuberans ,Humans ,In Situ Hybridization, Fluorescence ,PDGFB ,medicine.diagnostic_test ,Dermatofibrosarcoma ,Middle Aged ,Prognosis ,medicine.disease ,Immunohistochemistry ,Cell Transformation, Neoplastic ,COL1A1/PDGFB Fusion Gene ,Sarcoma ,Immunostaining ,Fluorescence in situ hybridization - Abstract
Several variants of dermatofibrosarcoma protuberans, a low-grade superficial sarcoma, are well recognized. The most prognostically important is the fibrosarcomatous variant. We report a case of biphasic dermatofibrosarcoma protuberans in which the high-grade component exhibited a previously undescribed plexiform pattern. A clinicopathological study complemented with immunohistochemical, ultrastructural, reverse transcription polymerase chain reaction and fluorescence in situ hybridization analyses of this unique case. Histopathologically, a conventional low-grade dermatofibrosarcoma protuberans was admixed with intratumoral high-grade areas showing a striking labyrinthine plexiform pattern characterized by a higher cellularity of larger and slightly atypical tumor cells. CD34 expression was present in both components, while Ki-67 immunostaining was significantly higher in the plexiform high-grade areas. Focal epithelial membrane antigen and claudin-1 immunostaining was present at the interphase between high- and low-grade areas. COL1A1-PDGFB fusion transcripts, with breakpoints at exon 25 of COL1A1 and exon 2 of PDGFB, were present in both components, being more numerous, as the extra copies of both genes, in the high-grade areas. A previously undescribed histopathologic pattern of high-grade sarcomatous transformation of dermatofibrosarcoma protuberans is reported: a biphasic tumor with a labyrinthine plexiform high-grade component. more...
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- 2014
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10. Dermatofibrosarcoma Protuberans: A Case Report and Review of Surgical Management
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Shauna Trinh, Paul Hanna, Kevin Petersen, and Osama Elsawy
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medicine.medical_specialty ,SHOULDER MASS ,business.industry ,medicine.disease ,Malignancy ,Dermatology ,Surgery ,COL1A1/PDGFB Fusion Gene ,medicine ,Local infiltration ,Dermatofibrosarcoma protuberans ,Etiology ,Right posterior ,Intermediate Grade ,business - Abstract
Dermatofibrosarcoma protuberans (DFSP) is an uncommon cutaneous neoplasm with low to intermediate grade malignancy. While it rarely metastasizes, it is characterized by aggressive local infiltration and high recurrence. The etiology of DFSP remains unknown, but current research has shown that DFSP has specific histologic, immunohistochemical, and cytogenetic findings. We report a unique case of a 29-year-old female who presented with a dry, shallow ulcerated right posterior shoulder mass diagnosed as DFSP, and describe our surgical management. J Curr Surg. 2016;6(2):57-59 doi: http://dx.doi.org/10.14740/jcs302w more...
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- 2016
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11. A case of pulmonary metastasis from dermatofibrosarcoma protuberans of fibrosarcomatous variant diagnosed by molecular detection of COL1A1-PDGFB fusion gene transcripts
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Masayuki Haniuda, Motoya Tanaka, Masayuki Yamaji, Nobutaka Kobayashi, Hiroki Numanami, and Junko Kitamura
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business.industry ,COL1A1/PDGFB Fusion Gene ,Cancer research ,Dermatofibrosarcoma protuberans ,Medicine ,Pulmonary metastasis ,business ,medicine.disease - Published
- 2014
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12. Feasibility ofCOL1A1-PDGFBfusion gene detection to evaluate surgical margins in dermatofibrosarcoma protuberans
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Toshihiro Tanaka, Norikazu Fujii, Gen Nakanishi, Masae Shirai, and Toshiaki Uenishi
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Adult ,medicine.medical_specialty ,Pathology ,Base Sequence ,Oncogene Proteins, Fusion ,Reverse Transcriptase Polymerase Chain Reaction ,business.industry ,Dermatofibrosarcoma ,Dermatology ,General Medicine ,medicine.disease ,COL1A1/PDGFB Fusion Gene ,medicine ,Dermatofibrosarcoma protuberans ,Humans ,Female ,Oncogene Fusion ,business ,DNA Primers - Published
- 2009
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13. Skin metastasis of dermatofibrosarcoma protuberans with distinct morphological features, confirmed by COL1A1-PDGFB fusion gene analysis
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Masaaki Ito, Tomotaka Tsujimoto, Kaoru Ito, Hiroshi Fujiwara, Hiroto Kobayashi, Takenori Kabumoto, and Naoyuki Kariya
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Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Oncogene Proteins, Fusion ,Dermatology ,Collagen Type I ,Fusion gene ,medicine ,Dermatofibrosarcoma protuberans ,Humans ,Fibrosarcomatous Dermatofibrosarcoma Protuberans ,business.industry ,Dermatofibrosarcoma ,Cancer ,Occiput ,Proto-Oncogene Proteins c-sis ,Middle Aged ,medicine.disease ,Collagen Type I, alpha 1 Chain ,medicine.anatomical_structure ,Head and Neck Neoplasms ,COL1A1/PDGFB Fusion Gene ,Forehead ,Sarcoma ,business - Abstract
We discuss a metastatic dermatofibrosarcoma protuberans on the occiput of a 53-year-old man whose initial tumor appeared on his forehead 23 years previously. The pathology of the tumor that recurred at the initial site was fibrosarcomatous dermatofibrosarcoma protuberans, whereas the metastatic tumor was a pigmented dermatofibrosarcoma protuberans, the so-called Bednar tumor. Because both tumors possessed the identical chimeric COL1A1-PDGFB fusion gene, the metastatic nature of the occipital tumor was confirmed. more...
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- 2009
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14. Sarcomas
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Lee J. Helman
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Oncology ,medicine.medical_specialty ,Hematology ,GiST ,Sunitinib ,business.industry ,Chromosomal translocation ,Imatinib ,medicine.disease ,Molecular oncology ,Internal medicine ,COL1A1/PDGFB Fusion Gene ,medicine ,Cancer research ,Gastrointestinal stromal tumors (GISTs) ,business ,medicine.drug - Published
- 2013
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15. No Correlation between the Molecular Subtype of COL1A1-PDGFB Fusion Gene and the Clinico-Histopathological Features of Dermatofibrosarcoma Protuberans
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Jean Michel Coindre, Nathalie Ebran, Philippe Terrier, Georges Maire, Bernard Guillot, Philippe Saiag, Jean-Philippe Lacour, Philippe Celerier, Agnès Carlotti, Paulo Nuin, Eric Estève, Frédéric Berthier, Sylvie Fraitag, Florence Pedeutour, Damien Giacchero, Dominique Ranchère-Vince, Laboratory of Solid Tumors Genetics, Nice University Hospital, Institut de signalisation, biologie du développement et cancer (ISBDC), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Dpt of Pathology and Molecular Medicine, Queen's University [Kingston, Canada], Département d'Informatique Médicale, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital Cimiez [Nice] (CHU), Canaux calciques , fonctions et pathologies, Université Joseph Fourier - Grenoble 1 (UJF)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biochimie - Ingénierie des protéines, Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Service d'anatomie pathologique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department de Dermatologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Lyon, Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Service de dermatologie, centre hospitalier universitaire Ambroise-Pare, Ministère de la santé, Institut de signalisation, biologie du développement et cancer ( ISBDC ), Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Centre National de la Recherche Scientifique ( CNRS ), Queen's University, CHU Nice-Hôpital Cimiez [Nice] ( CHU ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Institut Gustave Roussy ( IGR ), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), and Centre National de la Recherche Scientifique (CNRS)-Université de la Méditerranée - Aix-Marseille 2 more...
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Male ,Skin Neoplasms ,Oncogene Proteins ,Oncogene Proteins, Fusion ,MESH : Male ,Dermatology ,Biology ,MESH : Oncogene Proteins, Fusion ,Biochemistry ,MESH: Dermatofibrosarcoma ,MESH: DNA Breaks ,03 medical and health sciences ,0302 clinical medicine ,Dermatofibrosarcoma protuberans ,medicine ,Humans ,MESH : Female ,[ SDV.BDD ] Life Sciences [q-bio]/Development Biology ,Molecular Biology ,[SDV.BDD]Life Sciences [q-bio]/Development Biology ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,0303 health sciences ,MESH: Humans ,MESH: Skin Neoplasms ,MESH : Humans ,MESH : Skin Neoplasms ,DNA Breaks ,Dermatofibrosarcoma ,Cell Biology ,medicine.disease ,MESH: Male ,MESH : DNA Breaks ,MESH : Dermatofibrosarcoma ,030220 oncology & carcinogenesis ,Dna breaks ,COL1A1/PDGFB Fusion Gene ,Cancer research ,Female ,MESH: Female ,MESH: Oncogene Proteins, Fusion - Abstract
International audience
- Published
- 2010
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16. Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications
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Carlos Monteagudo, Beatriz Llombart, Onofre Sanmartín, Celia Requena, Juan Luis Vistós, Carlos Serra, Carlos Guillén, Antonio Llombart-Bosch, Sergio Almenar, Andres Poveda, and Jose Antonio López-Guerrero more...
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Histology ,Skin Neoplasms ,Adolescent ,CD34 ,Antineoplastic Agents ,Biology ,Collagen Type I ,Piperazines ,Pathology and Forensic Medicine ,Young Adult ,Dermatofibrosarcoma protuberans ,medicine ,Humans ,Aged ,DNA Primers ,Aged, 80 and over ,PDGFB ,Base Sequence ,Dermatofibrosarcoma ,General Medicine ,Giant-cell fibroblastoma ,Middle Aged ,medicine.disease ,Mohs Surgery ,Collagen Type I, alpha 1 Chain ,Imatinib mesylate ,Pyrimidines ,Fusion transcript ,COL1A1/PDGFB Fusion Gene ,Benzamides ,Imatinib Mesylate ,Female ,Gene Fusion ,Genes, sis - Abstract
Aims: To analyse the presence of collagen type I alpha 1–platelet-derived growth factor beta (COL1A1–PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. Methods and results: Multiplex reverse transcriptase-polymerase chain reaction was carried out using frozen tissue. Our series contained 14 men and six women. Histologically, most cases were of conventional type (n = 9), followed by fibrosarcoma (n = 4), Bednar tumour (n = 2), sclerosing (n = 2), myoid (n = 1) and atrophic (n = 1) DFSP, and giant cell fibroblastoma (n = 1). Immunohistochemistry revealed CD34 expression in 90% of cases. COL1A1–PDGFB fusion transcripts were present in 89% of cases (exons 18, 19, 20, 25, 26, 31, 33/34, 39, 40, 46, 47 and 48 of COL1A1 with exon 2 of PDGFB). There was no recurrence of DFSP in any of the 19 patients treated by Mohs surgery. A partial response was obtained in the two patients treated with imatinib. Conclusions: The COL1A1–PDGFB fusion was present in all histological subtypes of DFSP, but not all cases expressed the fusion transcript. No association was observed between different COL1A1 breakpoints and clinicopathological parameters. Imatinib mesylate can be useful in locally advanced tumours and metastases. more...
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- 2009
17. 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
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Alexander J. Lazar, Vivian S. Hernandez, Lynne V. Abruzzo, Kayuri U. Patel, Dolores López-Terrada, Victor G. Prieto, and Sara Szabo
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Adult ,Male ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,Oncogene Proteins, Fusion ,Molecular Sequence Data ,Biology ,Pathology and Forensic Medicine ,Exon ,Multiplex polymerase chain reaction ,Dermatofibrosarcoma protuberans ,medicine ,Humans ,Child ,In Situ Hybridization, Fluorescence ,Aged ,Gene Rearrangement ,PDGFB ,medicine.diagnostic_test ,Base Sequence ,Reverse Transcriptase Polymerase Chain Reaction ,Dermatofibrosarcoma ,Cytogenetics ,Chromosome Mapping ,Infant ,DNA, Neoplasm ,Middle Aged ,medicine.disease ,Molecular biology ,Reverse transcription polymerase chain reaction ,Child, Preschool ,COL1A1/PDGFB Fusion Gene ,Female ,Fluorescence in situ hybridization - Abstract
Dermatofibrosarcoma protuberans (DFSP) is a cutaneous, locally aggressive spindle cell tumor of intermediate malignancy. Tumor cells are reactive for CD34 and characterized by a t(17;22) translocation or a supernumerary ring chromosome that results in the fusion of exon 2 of PDGFB to various exons of the COL1A1 gene. We developed a multiplex reverse transcription polymerase chain reaction (RT-PCR) assay to detect fusion transcripts for all possible COL1A1 breakpoints. Twenty-seven formalin-fixed, paraffin-embedded DFSP cases were analyzed using 18 COL1A1 forward primers and 1 exon 2 PDGFB reverse primer. Sequence analysis was performed to definitively characterize breakpoints. Results were correlated with histology, immunohistochemistry, PDGFB break-apart fluorescence in situ hybridization analysis, and cytogenetics when available. Fusion transcripts were detected by RT-PCR in all but one DFSP case. Sequencing revealed a PDGFB exon 2 breakpoint in all cases. COL1A1 breakpoints were in exons 7 (1 patient), 10 (1), 29 (2), 40 (1), 46 (3), and 49 (2), and intronic between exons 13:14 (1), 26:27 (2), 30:31 (1) 33:34 (1), 43:44 (7), 45:46 (1), and 46:47 (1). Three novel COL1A1 breakpoints were identified, intronic between exons 13:14 (1), 30:31 (1) and in exon 49 (2). There was no correlation found between breakpoints and age, sex, or histologic variants. Using this sensitive multiplex RT-PCR assay in combination with fluorescence in situ hybridization, we found COL1A1-PDGFB rearrangements appear more prevalent in DFSP than previously reported. Its detection may be particularly helpful in the differential diagnosis of atypical, fibrosarcomatous, and metastatic DFSP. more...
- Published
- 2007
18. Absence of correlation between the molecular subtype of COL1A1-PDGFB fusion gene and the clinico-histopathological features of dermatofibrosarcoma protuberans: Analysis of 35 novel cases and review of 137 cases from the literature
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Florence Pedeutour, Damien Giacchero, G. Maire, Jean-Philippe Lacour, Paulo Nuin, and Jean Michel Coindre
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musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Cancer Research ,integumentary system ,business.industry ,Chromosomal translocation ,macromolecular substances ,medicine.disease ,Fusion gene ,Oncology ,COL1A1/PDGFB Fusion Gene ,Cancer research ,Dermatofibrosarcoma protuberans ,Medicine ,skin and connective tissue diseases ,business - Abstract
10071 Background: The translocation t(17;22) resulting in COL1A1-PDGFB fusion gene is found in dermatofibrosarcoma protuberans (DFSP) and its clinico-pathological variants. The chimeric COL1A1-PDGF... more...
- Published
- 2010
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