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Recurrent Fusions B...
Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma
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- Puls, Florian (author)
- Sahlgrenska University Hospital
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- Agaimy, Abbas (author)
- University Hospital Erlangen
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- Flucke, Uta (author)
- University Hospital Erlangen
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Mentzel, Thomas (author)
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- Sumathi, Vaiyapuri P (author)
- Royal Orthopaedic Hospital
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- Ploegmakers, Marieke (author)
- Radboud University Medical Center
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- Stoehr, Robert (author)
- University Hospital Erlangen
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- Kindblom, Lars-Gunnar (author)
- Sahlgrenska University Hospital
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- Hansson, Magnus (author)
- University of Florence,Sahlgrenska University Hospital
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- Sydow, Saskia (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Arbajian, Elsa (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/lungcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,The genetics of soft tissue tumors,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/lungcancer,Section I,Department of Clinical Sciences, Lund
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- Mertens, Fredrik (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,The genetics of soft tissue tumors,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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(creator_code:org_t)
- 2020
- 2020
- English 13 s.
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In: American Journal of Surgical Pathology. - 1532-0979. ; 44:5, s. 594-606
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Abstract
Subject headings
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- Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive soft tissue sarcoma. In the majority of cases, there is overexpression of MUC4, and most cases show EWSR1-CREB3L1 gene fusions. A subset of SEF displays composite histologic features of SEF and low-grade fibromyxoid sarcoma (LGFMS). These "hybrid" tumors are more likely to harbor the FUS-CREB3L2 fusion, which is also seen in most LGFMS. We, here, characterize a series of 8 soft tissue neoplasms with morphologic features highly overlapping with LGFMS and SEF but lacking MUC4 expression and EWSR1/FUS-CREB3L gene fusions. Seven tumors showed fusions of the YAP1 and KMT2A genes, and 1 had a fusion of PRRX1 and KMT2D; all but 1 case displayed reciprocal gene fusions. At gene expression profiling, YAP1 and KMT2A/PRRX1 and KMT2D tumors were distinct from LGFMS/SEF. The patients were 4 female individuals and 4 male individuals aged 11 to 91 years. Tumors with known locations were in the lower extremity (5), trunk (2), and upper extremity (1); 3 originated in acral locations. Tumor size ranged from 2.5 to 13 cm. Proportions of SEF-like and LGFMS-like areas varied considerably among tumors. All tumors that showed infiltrative growth and mitotic figures per 10 HPFs ranged from 0 to 18. Tumor necrosis was present in 1 case. Follow-up was available for 5 patients (11 to 321 mo), 2 of whom developed local recurrences, and 1 died of metastatic disease. The clinical behavior of these soft tissue sarcomas remains to be further delineated in larger series with extended follow-up; however, our limited clinical data indicate that they are potentially aggressive.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Läkemedelskemi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medicinal Chemistry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Adaptor Proteins, Signal Transducing/genetics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Biomarkers, Tumor/genetics
- Child
- Diagnosis, Differential
- Disease Progression
- Epithelioid Cells/pathology
- Europe
- Female
- Fibrosarcoma/genetics
- Gene Fusion
- Genetic Predisposition to Disease
- Histone-Lysine N-Methyltransferase/genetics
- Homeodomain Proteins/genetics
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Middle Aged
- Myeloid-Lymphoid Leukemia Protein/genetics
- Neoplasm Grading
- Neoplasm Recurrence, Local
- Phenotype
- Predictive Value of Tests
- RNA-Seq
- Sclerosis
- Soft Tissue Neoplasms/genetics
- Transcription Factors/genetics
- Treatment Outcome
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Puls, Florian
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Agaimy, Abbas
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Flucke, Uta
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Mentzel, Thomas
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Sumathi, Vaiyapu ...
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Ploegmakers, Mar ...
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show more...
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Stoehr, Robert
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Kindblom, Lars-G ...
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Hansson, Magnus
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Sydow, Saskia
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Arbajian, Elsa
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Mertens, Fredrik
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medicinal Chemis ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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American Journal ...
- By the university
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Lund University