Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner
Pediatric neoplasms with a myofibroblastic differentiation are frequent in children, in particular myofibroma. Recently, a novel deep soft tissue myofibroblastic neoplasm has been described with high cellularity, a smooth muscle phenotype and SRF-RELA fusion. We report the case of a 15-year-old boy...
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| Veröffentlicht in: | Virchows Archiv : an international journal of pathology 2021-03, Vol.478 (3), p.597-603 |
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| container_title | Virchows Archiv : an international journal of pathology |
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| creator | Nihous, Hugo Macagno, Nicolas Baud-Massière, Jessica Haffner, Aurélie Jouve, Jean-Luc Gentet, Jean-Claude Touzery, Camille Le Loarer, François Bouvier, Corinne |
| description | Pediatric neoplasms with a myofibroblastic differentiation are frequent in children, in particular myofibroma. Recently, a novel deep soft tissue myofibroblastic neoplasm has been described with high cellularity, a smooth muscle phenotype and
SRF-RELA
fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described
SRF-RELA
group of myofibromas but differing by the presence of calcifications, a novel
SRF-STAT6
fusion transcript and nuclear expression of STAT6. No local recurrence nor distant metastasis was detected at the current follow-up of 29 months. The clinical relevance of this novel fusion requires further investigations. |
| doi_str_mv | 10.1007/s00428-020-02859-9 |
| format | Article |
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SRF-RELA
fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described
SRF-RELA
group of myofibromas but differing by the presence of calcifications, a novel
SRF-STAT6
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SRF-RELA
fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described
SRF-RELA
group of myofibromas but differing by the presence of calcifications, a novel
SRF-STAT6
fusion transcript and nuclear expression of STAT6. No local recurrence nor distant metastasis was detected at the current follow-up of 29 months. The clinical relevance of this novel fusion requires further investigations.</description><subject>Adolescent</subject><subject>Biomarkers, Tumor - analysis</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Brief Report</subject><subject>Cancer</subject><subject>Cell Nucleus - chemistry</subject><subject>Cell Nucleus - genetics</subject><subject>Cell Nucleus - pathology</subject><subject>Children</subject><subject>Cloning</subject><subject>Cytoplasm</subject><subject>Fibroids</subject><subject>Gene Fusion</subject><subject>Gene Rearrangement</subject><subject>Genetic diversity</subject><subject>Genetic variance</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Genotype & phenotype</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metastases</subject><subject>Metastasis</subject><subject>Muscles</subject><subject>Muscular system</subject><subject>Myofibroma - chemistry</subject><subject>Myofibroma - diagnostic imaging</subject><subject>Myofibroma - genetics</subject><subject>Myofibroma - pathology</subject><subject>Neoplasia</subject><subject>Neoplasms</subject><subject>Nuclear fusion</subject><subject>Pathology</subject><subject>Pediatrics</subject><subject>Phenotypes</subject><subject>RelA protein</subject><subject>Sarcoma</subject><subject>Sequence Analysis, RNA</subject><subject>Serum Response Factor - genetics</subject><subject>Smooth muscle</subject><subject>Soft Tissue Neoplasms - chemistry</subject><subject>Soft Tissue Neoplasms - diagnostic imaging</subject><subject>Soft Tissue Neoplasms - genetics</subject><subject>Soft Tissue Neoplasms - pathology</subject><subject>Soft tissues</subject><subject>Stat6 protein</subject><subject>STAT6 Transcription Factor - analysis</subject><subject>STAT6 Transcription Factor - genetics</subject><subject>Transcription</subject><subject>Tumors</subject><subject>Upper 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variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner</title><author>Nihous, Hugo ; Macagno, Nicolas ; Baud-Massière, Jessica ; Haffner, Aurélie ; Jouve, Jean-Luc ; Gentet, Jean-Claude ; Touzery, Camille ; Le Loarer, François ; Bouvier, Corinne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c420t-302eaeebb9ad5780ad44ff4b9808b2368b7d31a017e7a9b66099b80aaa1035813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adolescent</topic><topic>Biomarkers, Tumor - analysis</topic><topic>Biomarkers, Tumor - genetics</topic><topic>Brief Report</topic><topic>Cancer</topic><topic>Cell Nucleus - chemistry</topic><topic>Cell Nucleus - genetics</topic><topic>Cell Nucleus - pathology</topic><topic>Children</topic><topic>Cloning</topic><topic>Cytoplasm</topic><topic>Fibroids</topic><topic>Gene Fusion</topic><topic>Gene 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Tissue Neoplasms - diagnostic imaging</topic><topic>Soft Tissue Neoplasms - genetics</topic><topic>Soft Tissue Neoplasms - pathology</topic><topic>Soft tissues</topic><topic>Stat6 protein</topic><topic>STAT6 Transcription Factor - analysis</topic><topic>STAT6 Transcription Factor - genetics</topic><topic>Transcription</topic><topic>Tumors</topic><topic>Upper Extremity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nihous, Hugo</creatorcontrib><creatorcontrib>Macagno, Nicolas</creatorcontrib><creatorcontrib>Baud-Massière, Jessica</creatorcontrib><creatorcontrib>Haffner, Aurélie</creatorcontrib><creatorcontrib>Jouve, Jean-Luc</creatorcontrib><creatorcontrib>Gentet, Jean-Claude</creatorcontrib><creatorcontrib>Touzery, Camille</creatorcontrib><creatorcontrib>Le Loarer, François</creatorcontrib><creatorcontrib>Bouvier, Corinne</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE 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international journal of pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nihous, Hugo</au><au>Macagno, Nicolas</au><au>Baud-Massière, Jessica</au><au>Haffner, Aurélie</au><au>Jouve, Jean-Luc</au><au>Gentet, Jean-Claude</au><au>Touzery, Camille</au><au>Le Loarer, François</au><au>Bouvier, Corinne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner</atitle><jtitle>Virchows Archiv : an international journal of pathology</jtitle><stitle>Virchows Arch</stitle><addtitle>Virchows Arch</addtitle><date>2021-03-01</date><risdate>2021</risdate><volume>478</volume><issue>3</issue><spage>597</spage><epage>603</epage><pages>597-603</pages><issn>0945-6317</issn><eissn>1432-2307</eissn><abstract>Pediatric neoplasms with a myofibroblastic differentiation are frequent in children, in particular myofibroma. Recently, a novel deep soft tissue myofibroblastic neoplasm has been described with high cellularity, a smooth muscle phenotype and
SRF-RELA
fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described
SRF-RELA
group of myofibromas but differing by the presence of calcifications, a novel
SRF-STAT6
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| ispartof | Virchows Archiv : an international journal of pathology, 2021-03, Vol.478 (3), p.597-603 |
| issn | 0945-6317 1432-2307 |
| language | eng |
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| source | MEDLINE; SpringerLink |
| subjects | Adolescent Biomarkers, Tumor - analysis Biomarkers, Tumor - genetics Brief Report Cancer Cell Nucleus - chemistry Cell Nucleus - genetics Cell Nucleus - pathology Children Cloning Cytoplasm Fibroids Gene Fusion Gene Rearrangement Genetic diversity Genetic variance Genetics Genomes Genotype & phenotype Human health and pathology Humans Immunohistochemistry Life Sciences Male Medicine Medicine & Public Health Metastases Metastasis Muscles Muscular system Myofibroma - chemistry Myofibroma - diagnostic imaging Myofibroma - genetics Myofibroma - pathology Neoplasia Neoplasms Nuclear fusion Pathology Pediatrics Phenotypes RelA protein Sarcoma Sequence Analysis, RNA Serum Response Factor - genetics Smooth muscle Soft Tissue Neoplasms - chemistry Soft Tissue Neoplasms - diagnostic imaging Soft Tissue Neoplasms - genetics Soft Tissue Neoplasms - pathology Soft tissues Stat6 protein STAT6 Transcription Factor - analysis STAT6 Transcription Factor - genetics Transcription Tumors Upper Extremity |
| title | Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner |
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