Novel MEAF6‐SUZ12 fusion in ossifying fibromyxoid tumor with unusual features
Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain differentiation that has the capacity for local recurrence and metastasis. Many OFMTs, including typical, atypical, and malignant tumors, have demonstrated recurrent gene fusions. The fusion partners reported to date shar...
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Veröffentlicht in: | Genes chromosomes & cancer 2021-09, Vol.60 (9), p.631-634 |
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description | Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain differentiation that has the capacity for local recurrence and metastasis. Many OFMTs, including typical, atypical, and malignant tumors, have demonstrated recurrent gene fusions. The fusion partners reported to date share a common core function in that they play either a direct or indirect role in processes influencing histone modification. Herein, we report an OFMT with unusual morphology and non‐specific immunoprofile harboring a novel MEAF6‐SUZ12 fusion. A 34‐year‐old male presented with a slowly growing mass in the right antecubital fossa. Excision demonstrated a 6.9 cm partially encapsulated, tan‐white, lobulated, and calcified lesion. Microscopic evaluation demonstrated cytologically bland spindle to ovoid cells arranged in a haphazard manner within a fibromyxoid background containing dense collagen, often with sclerotic nodules, and randomly distributed ossification. The tumor cells were diffusely positive for CD34 while essentially negative for S100, desmin, MUC4, SOX10, AE1/3, SMA, and EMA. Next‐generation sequencing studies (sarcoma gene fusion next‐generation sequencing panel with subsequent Sanger confirmation) performed on formalin‐fixed paraffin‐embedded tissue detected a fusion product between MEAF6 exon 4 (NM_001270875) and SUZ12 exon 2 (NM_001321207.1). The proposed mechanism of pathogenesis in OFMT, namely epigenetic dysregulation, is reinforced by the fact that both of these partner genes are involved in histone modification. |
doi_str_mv | 10.1002/gcc.22951 |
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Many OFMTs, including typical, atypical, and malignant tumors, have demonstrated recurrent gene fusions. The fusion partners reported to date share a common core function in that they play either a direct or indirect role in processes influencing histone modification. Herein, we report an OFMT with unusual morphology and non‐specific immunoprofile harboring a novel MEAF6‐SUZ12 fusion. A 34‐year‐old male presented with a slowly growing mass in the right antecubital fossa. Excision demonstrated a 6.9 cm partially encapsulated, tan‐white, lobulated, and calcified lesion. Microscopic evaluation demonstrated cytologically bland spindle to ovoid cells arranged in a haphazard manner within a fibromyxoid background containing dense collagen, often with sclerotic nodules, and randomly distributed ossification. The tumor cells were diffusely positive for CD34 while essentially negative for S100, desmin, MUC4, SOX10, AE1/3, SMA, and EMA. Next‐generation sequencing studies (sarcoma gene fusion next‐generation sequencing panel with subsequent Sanger confirmation) performed on formalin‐fixed paraffin‐embedded tissue detected a fusion product between MEAF6 exon 4 (NM_001270875) and SUZ12 exon 2 (NM_001321207.1). The proposed mechanism of pathogenesis in OFMT, namely epigenetic dysregulation, is reinforced by the fact that both of these partner genes are involved in histone modification.</description><identifier>ISSN: 1045-2257</identifier><identifier>EISSN: 1098-2264</identifier><identifier>DOI: 10.1002/gcc.22951</identifier><identifier>PMID: 33840146</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adult ; CD34 antigen ; Collagen ; Desmin ; epigenetic regulation ; Epigenetics ; Fibroma - genetics ; Fibroma - pathology ; fusion ; Gene fusion ; Genetics & Heredity ; Histone Acetyltransferases - genetics ; histone modification ; Histones ; Humans ; Life Sciences & Biomedicine ; Male ; MEAF6‐SUZ12 ; Metastases ; Neoplasia ; Neoplasm Proteins - genetics ; OFMT ; Oncogene Proteins, Fusion - genetics ; Oncology ; Ossification ; Ossification, Heterotopic - genetics ; Ossification, Heterotopic - pathology ; Paraffin ; Sarcoma ; Science & Technology ; Soft Tissue Neoplasms - genetics ; Soft Tissue Neoplasms - pathology ; Sox10 protein ; Transcription Factors - genetics ; Tumor cells ; Tumors</subject><ispartof>Genes chromosomes & cancer, 2021-09, Vol.60 (9), p.631-634</ispartof><rights>2021 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>4</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000641840600001</woscitedreferencesoriginalsourcerecordid><citedby>FETCH-LOGICAL-c3531-b8cc1373c4f24e7511091df3d33db832965f9a9dc649b18bc61b1b443a7985243</citedby><cites>FETCH-LOGICAL-c3531-b8cc1373c4f24e7511091df3d33db832965f9a9dc649b18bc61b1b443a7985243</cites><orcidid>0000-0001-8051-0657</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fgcc.22951$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fgcc.22951$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27929,27930,39263,45579,45580</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33840146$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Killian, Katherine</creatorcontrib><creatorcontrib>Leckey, Bruce D.</creatorcontrib><creatorcontrib>Naous, Rana</creatorcontrib><creatorcontrib>McGough, Richard L.</creatorcontrib><creatorcontrib>Surrey, Lea F.</creatorcontrib><creatorcontrib>John, Ivy</creatorcontrib><title>Novel MEAF6‐SUZ12 fusion in ossifying fibromyxoid tumor with unusual features</title><title>Genes chromosomes & cancer</title><addtitle>GENE CHROMOSOME CANC</addtitle><addtitle>Genes Chromosomes Cancer</addtitle><description>Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain differentiation that has the capacity for local recurrence and metastasis. Many OFMTs, including typical, atypical, and malignant tumors, have demonstrated recurrent gene fusions. The fusion partners reported to date share a common core function in that they play either a direct or indirect role in processes influencing histone modification. Herein, we report an OFMT with unusual morphology and non‐specific immunoprofile harboring a novel MEAF6‐SUZ12 fusion. A 34‐year‐old male presented with a slowly growing mass in the right antecubital fossa. Excision demonstrated a 6.9 cm partially encapsulated, tan‐white, lobulated, and calcified lesion. Microscopic evaluation demonstrated cytologically bland spindle to ovoid cells arranged in a haphazard manner within a fibromyxoid background containing dense collagen, often with sclerotic nodules, and randomly distributed ossification. The tumor cells were diffusely positive for CD34 while essentially negative for S100, desmin, MUC4, SOX10, AE1/3, SMA, and EMA. Next‐generation sequencing studies (sarcoma gene fusion next‐generation sequencing panel with subsequent Sanger confirmation) performed on formalin‐fixed paraffin‐embedded tissue detected a fusion product between MEAF6 exon 4 (NM_001270875) and SUZ12 exon 2 (NM_001321207.1). The proposed mechanism of pathogenesis in OFMT, namely epigenetic dysregulation, is reinforced by the fact that both of these partner genes are involved in histone modification.</description><subject>Adult</subject><subject>CD34 antigen</subject><subject>Collagen</subject><subject>Desmin</subject><subject>epigenetic regulation</subject><subject>Epigenetics</subject><subject>Fibroma - genetics</subject><subject>Fibroma - pathology</subject><subject>fusion</subject><subject>Gene fusion</subject><subject>Genetics & Heredity</subject><subject>Histone Acetyltransferases - genetics</subject><subject>histone modification</subject><subject>Histones</subject><subject>Humans</subject><subject>Life Sciences & Biomedicine</subject><subject>Male</subject><subject>MEAF6‐SUZ12</subject><subject>Metastases</subject><subject>Neoplasia</subject><subject>Neoplasm Proteins - genetics</subject><subject>OFMT</subject><subject>Oncogene Proteins, Fusion - genetics</subject><subject>Oncology</subject><subject>Ossification</subject><subject>Ossification, Heterotopic - genetics</subject><subject>Ossification, Heterotopic - pathology</subject><subject>Paraffin</subject><subject>Sarcoma</subject><subject>Science & Technology</subject><subject>Soft Tissue Neoplasms - genetics</subject><subject>Soft Tissue Neoplasms - pathology</subject><subject>Sox10 protein</subject><subject>Transcription Factors - genetics</subject><subject>Tumor cells</subject><subject>Tumors</subject><issn>1045-2257</issn><issn>1098-2264</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>HGBXW</sourceid><sourceid>EIF</sourceid><recordid>eNqNkc9OFTEUxhujEQQXvoBp4gZDLvT0z0y7JBP-mKAshI2bybTTYsnMFNupeHc8As_Ik9DrvbIwMXF1vsXvfPnOdxB6B-QACKGH18YcUKoEvEDbQJRcUFrxlyvNRdGi3kJvUrohhFRMiddoizHJCfBqG118CT_tgD8fH51Uj_cPX6--AcUuJx8m7CccUvJu6adr7LyOYVz-Cr7Hcx5DxHd-_o7zlFPuBuxsN-do0y565boh2bebuYOuTo4vm7PF-cXpp-bofGGYYLDQ0hhgNTPcUW5rASU29I71jPVaMqoq4VSnelNxpUFqU4EGzTnraiUF5WwH7a19b2P4kW2a29EnY4ehm2zIqaXFUhECsi7oh7_Qm5DjVNIVikvFJQhZqI9rysRydLSuvY1-7OKyBdKuWm5Ly-3vlgv7fuOY9Wj7Z_JPrQXYXwN3VgeXjLeTsc_Y6g8cCloVRVZ28v_pxs_dXL7ThDzNZfVws-oHu_x35Pa0adbZnwA5nqVZ</recordid><startdate>202109</startdate><enddate>202109</enddate><creator>Killian, Katherine</creator><creator>Leckey, Bruce D.</creator><creator>Naous, Rana</creator><creator>McGough, Richard L.</creator><creator>Surrey, Lea F.</creator><creator>John, Ivy</creator><general>John Wiley & Sons, Inc</general><general>Wiley</general><general>Wiley Subscription Services, Inc</general><scope>BLEPL</scope><scope>DTL</scope><scope>HGBXW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TM</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-8051-0657</orcidid></search><sort><creationdate>202109</creationdate><title>Novel MEAF6‐SUZ12 fusion in ossifying fibromyxoid tumor with unusual features</title><author>Killian, Katherine ; Leckey, Bruce D. ; Naous, Rana ; McGough, Richard L. ; Surrey, Lea F. ; John, Ivy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3531-b8cc1373c4f24e7511091df3d33db832965f9a9dc649b18bc61b1b443a7985243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adult</topic><topic>CD34 antigen</topic><topic>Collagen</topic><topic>Desmin</topic><topic>epigenetic regulation</topic><topic>Epigenetics</topic><topic>Fibroma - genetics</topic><topic>Fibroma - pathology</topic><topic>fusion</topic><topic>Gene fusion</topic><topic>Genetics & Heredity</topic><topic>Histone Acetyltransferases - genetics</topic><topic>histone modification</topic><topic>Histones</topic><topic>Humans</topic><topic>Life Sciences & Biomedicine</topic><topic>Male</topic><topic>MEAF6‐SUZ12</topic><topic>Metastases</topic><topic>Neoplasia</topic><topic>Neoplasm Proteins - genetics</topic><topic>OFMT</topic><topic>Oncogene Proteins, Fusion - genetics</topic><topic>Oncology</topic><topic>Ossification</topic><topic>Ossification, Heterotopic - genetics</topic><topic>Ossification, Heterotopic - pathology</topic><topic>Paraffin</topic><topic>Sarcoma</topic><topic>Science & Technology</topic><topic>Soft Tissue Neoplasms - genetics</topic><topic>Soft Tissue Neoplasms - pathology</topic><topic>Sox10 protein</topic><topic>Transcription Factors - genetics</topic><topic>Tumor cells</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Killian, Katherine</creatorcontrib><creatorcontrib>Leckey, Bruce D.</creatorcontrib><creatorcontrib>Naous, Rana</creatorcontrib><creatorcontrib>McGough, Richard L.</creatorcontrib><creatorcontrib>Surrey, Lea F.</creatorcontrib><creatorcontrib>John, Ivy</creatorcontrib><collection>Web of Science Core Collection</collection><collection>Science Citation Index Expanded</collection><collection>Web of Science - Science Citation Index Expanded - 2021</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes chromosomes & cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Killian, Katherine</au><au>Leckey, Bruce D.</au><au>Naous, Rana</au><au>McGough, Richard L.</au><au>Surrey, Lea F.</au><au>John, Ivy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel MEAF6‐SUZ12 fusion in ossifying fibromyxoid tumor with unusual features</atitle><jtitle>Genes chromosomes & cancer</jtitle><stitle>GENE CHROMOSOME CANC</stitle><addtitle>Genes Chromosomes Cancer</addtitle><date>2021-09</date><risdate>2021</risdate><volume>60</volume><issue>9</issue><spage>631</spage><epage>634</epage><pages>631-634</pages><issn>1045-2257</issn><eissn>1098-2264</eissn><abstract>Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain differentiation that has the capacity for local recurrence and metastasis. Many OFMTs, including typical, atypical, and malignant tumors, have demonstrated recurrent gene fusions. The fusion partners reported to date share a common core function in that they play either a direct or indirect role in processes influencing histone modification. Herein, we report an OFMT with unusual morphology and non‐specific immunoprofile harboring a novel MEAF6‐SUZ12 fusion. A 34‐year‐old male presented with a slowly growing mass in the right antecubital fossa. Excision demonstrated a 6.9 cm partially encapsulated, tan‐white, lobulated, and calcified lesion. Microscopic evaluation demonstrated cytologically bland spindle to ovoid cells arranged in a haphazard manner within a fibromyxoid background containing dense collagen, often with sclerotic nodules, and randomly distributed ossification. The tumor cells were diffusely positive for CD34 while essentially negative for S100, desmin, MUC4, SOX10, AE1/3, SMA, and EMA. Next‐generation sequencing studies (sarcoma gene fusion next‐generation sequencing panel with subsequent Sanger confirmation) performed on formalin‐fixed paraffin‐embedded tissue detected a fusion product between MEAF6 exon 4 (NM_001270875) and SUZ12 exon 2 (NM_001321207.1). The proposed mechanism of pathogenesis in OFMT, namely epigenetic dysregulation, is reinforced by the fact that both of these partner genes are involved in histone modification.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>33840146</pmid><doi>10.1002/gcc.22951</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0001-8051-0657</orcidid></addata></record> |
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subjects | Adult CD34 antigen Collagen Desmin epigenetic regulation Epigenetics Fibroma - genetics Fibroma - pathology fusion Gene fusion Genetics & Heredity Histone Acetyltransferases - genetics histone modification Histones Humans Life Sciences & Biomedicine Male MEAF6‐SUZ12 Metastases Neoplasia Neoplasm Proteins - genetics OFMT Oncogene Proteins, Fusion - genetics Oncology Ossification Ossification, Heterotopic - genetics Ossification, Heterotopic - pathology Paraffin Sarcoma Science & Technology Soft Tissue Neoplasms - genetics Soft Tissue Neoplasms - pathology Sox10 protein Transcription Factors - genetics Tumor cells Tumors |
title | Novel MEAF6‐SUZ12 fusion in ossifying fibromyxoid tumor with unusual features |
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