Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1 - CAMTA1 breakpoints
Similar to other vascular tumors, epithelioid hemangioendothelioma (EHE) can have multifocal presentation in up to 50% of cases. However, whether multifocal EHE represents an unusual pattern of metastasis or multiple separate primary tumors remains to be elucidated. Our recent identification of a WW...
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| Veröffentlicht in: | Cancer genetics 2012-01, Vol.205 (1), p.12-17 |
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| description | Similar to other vascular tumors, epithelioid hemangioendothelioma (EHE) can have multifocal presentation in up to 50% of cases. However, whether multifocal EHE represents an unusual pattern of metastasis or multiple separate primary tumors remains to be elucidated. Our recent identification of a WWTR1 - CAMTA1 fusion as the genetic hallmark of EHE irrespective of anatomic location was used to clarify this question by comparing the similarity of translocation breakpoints. In our previous study, we found variability of the fusion transcripts of the t(1;3)(p36;q25) translocation among different patients with EHE. Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE. Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1 - CAMTA1 fusion transcript product from different nodules in each patient. Our results confirm that multifocal EHE are monoclonal and thus represent metastatic implants of the same neoplastic clone rather than a “field-effect” or synchronous occurrence of multiple neoplastic clones. |
| doi_str_mv | 10.1016/j.cancergen.2011.10.008 |
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However, whether multifocal EHE represents an unusual pattern of metastasis or multiple separate primary tumors remains to be elucidated. Our recent identification of a WWTR1 - CAMTA1 fusion as the genetic hallmark of EHE irrespective of anatomic location was used to clarify this question by comparing the similarity of translocation breakpoints. In our previous study, we found variability of the fusion transcripts of the t(1;3)(p36;q25) translocation among different patients with EHE. Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE. Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1 - CAMTA1 fusion transcript product from different nodules in each patient. Our results confirm that multifocal EHE are monoclonal and thus represent metastatic implants of the same neoplastic clone rather than a “field-effect” or synchronous occurrence of multiple neoplastic clones.</description><identifier>ISSN: 2210-7762</identifier><identifier>EISSN: 2210-7770</identifier><identifier>EISSN: 2210-7762</identifier><identifier>DOI: 10.1016/j.cancergen.2011.10.008</identifier><identifier>PMID: 22429593</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Base Sequence ; Calcium-Binding Proteins - analysis ; Calcium-Binding Proteins - genetics ; Chromosome Breakpoints ; Clonal Evolution - genetics ; Clonal Evolution - physiology ; Clone Cells - metabolism ; Clone Cells - pathology ; epithelioid hemangioendothelioma ; Female ; Hemangioendothelioma, Epithelioid - genetics ; Hemangioendothelioma, Epithelioid - pathology ; Hematology, Oncology and Palliative Medicine ; Humans ; Intracellular Signaling Peptides and Proteins - analysis ; Intracellular Signaling Peptides and Proteins - genetics ; Liver Neoplasms - genetics ; Liver Neoplasms - pathology ; Male ; Medical Education ; metastasis ; Molecular Sequence Data ; monoclonality ; multifocality ; Neoplasms, Multiple Primary - genetics ; Neoplasms, Multiple Primary - pathology ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Trans-Activators - analysis ; Trans-Activators - genetics ; Vascular tumor ; WWTR1-CAMTA1</subject><ispartof>Cancer genetics, 2012-01, Vol.205 (1), p.12-17</ispartof><rights>Elsevier Inc.</rights><rights>2012 Elsevier Inc.</rights><rights>Copyright © 2012 Elsevier Inc. 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All rights reserved. 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c628t-dee1e1298f2c50265cfda886247cbe9f072bf287b99ad13e2e2d42dcb7ac59763</citedby><cites>FETCH-LOGICAL-c628t-dee1e1298f2c50265cfda886247cbe9f072bf287b99ad13e2e2d42dcb7ac59763</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S2210776211003012$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22429593$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Errani, Costantino</creatorcontrib><creatorcontrib>Sung, Yun Shao</creatorcontrib><creatorcontrib>Zhang, Lei</creatorcontrib><creatorcontrib>Healey, John H</creatorcontrib><creatorcontrib>Antonescu, Cristina R</creatorcontrib><title>Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1 - CAMTA1 breakpoints</title><title>Cancer genetics</title><addtitle>Cancer Genet</addtitle><description>Similar to other vascular tumors, epithelioid hemangioendothelioma (EHE) can have multifocal presentation in up to 50% of cases. However, whether multifocal EHE represents an unusual pattern of metastasis or multiple separate primary tumors remains to be elucidated. Our recent identification of a WWTR1 - CAMTA1 fusion as the genetic hallmark of EHE irrespective of anatomic location was used to clarify this question by comparing the similarity of translocation breakpoints. In our previous study, we found variability of the fusion transcripts of the t(1;3)(p36;q25) translocation among different patients with EHE. Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE. Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1 - CAMTA1 fusion transcript product from different nodules in each patient. Our results confirm that multifocal EHE are monoclonal and thus represent metastatic implants of the same neoplastic clone rather than a “field-effect” or synchronous occurrence of multiple neoplastic clones.</description><subject>Adult</subject><subject>Base Sequence</subject><subject>Calcium-Binding Proteins - analysis</subject><subject>Calcium-Binding Proteins - genetics</subject><subject>Chromosome Breakpoints</subject><subject>Clonal Evolution - genetics</subject><subject>Clonal Evolution - physiology</subject><subject>Clone Cells - metabolism</subject><subject>Clone Cells - pathology</subject><subject>epithelioid hemangioendothelioma</subject><subject>Female</subject><subject>Hemangioendothelioma, Epithelioid - genetics</subject><subject>Hemangioendothelioma, Epithelioid - pathology</subject><subject>Hematology, Oncology and Palliative Medicine</subject><subject>Humans</subject><subject>Intracellular Signaling Peptides and Proteins - analysis</subject><subject>Intracellular Signaling Peptides and Proteins - genetics</subject><subject>Liver Neoplasms - genetics</subject><subject>Liver Neoplasms - pathology</subject><subject>Male</subject><subject>Medical Education</subject><subject>metastasis</subject><subject>Molecular Sequence Data</subject><subject>monoclonality</subject><subject>multifocality</subject><subject>Neoplasms, Multiple Primary - genetics</subject><subject>Neoplasms, Multiple Primary - pathology</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>Sequence Analysis, DNA</subject><subject>Trans-Activators - analysis</subject><subject>Trans-Activators - genetics</subject><subject>Vascular tumor</subject><subject>WWTR1-CAMTA1</subject><issn>2210-7762</issn><issn>2210-7770</issn><issn>2210-7762</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNUk2P0zAQjRCIXS37F8A3uLTYkw8nl5WqavmQdoUERXu0HHvSuuvYxU4q5d_jqEsFHBC-eDTvzbNn3mTZG0aXjLLq_X6ppFMYtuiWQBlL2SWl9bPsEoDRBeecPj_HFVxk1zHuaTpFSWuev8wuAApoyia_zOK9d15Z76Q1w0R8R_rRDqbzSlqCBzPs0BpvNNlhL93WeHTan5K9nOkpJtYcMZB2IjLJTNHEGXh42HxlZEHWq_vNipE2oHw8eOOG-Cp70Ukb8frpvsq-f7jdrD8t7r58_Lxe3S1UBfWw0IgMGTR1B6qkUJWq07KuKyi4arHpKIe2g5q3TSM1yxEQdAFatVyqsuFVfpXdnHQPY9ujVuiGIK04BNPLMAkvjfgTcWYntv4o8rxiDc2TwNsngeB_jBgH0Zuo0Frp0I9RNGmINDlQJua7fzJZ8qcugFazKD9RVfAxBuzOH2JUzP6KvTj7K2Z_ZyDVp8rXv_dzrvvlZiKsTgRMUz0aDCIqg0lKm4BqENqb_3jk5i8NZY0zaR0eccK492NIJqeORARBxbd5zeYtY6nFnDLIfwIzRtGN</recordid><startdate>20120101</startdate><enddate>20120101</enddate><creator>Errani, Costantino</creator><creator>Sung, Yun Shao</creator><creator>Zhang, Lei</creator><creator>Healey, John H</creator><creator>Antonescu, Cristina R</creator><general>Elsevier Inc</general><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>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20120101</creationdate><title>Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1 - CAMTA1 breakpoints</title><author>Errani, Costantino ; Sung, Yun Shao ; Zhang, Lei ; Healey, John H ; Antonescu, Cristina R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c628t-dee1e1298f2c50265cfda886247cbe9f072bf287b99ad13e2e2d42dcb7ac59763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Base Sequence</topic><topic>Calcium-Binding Proteins - analysis</topic><topic>Calcium-Binding Proteins - genetics</topic><topic>Chromosome Breakpoints</topic><topic>Clonal Evolution - genetics</topic><topic>Clonal Evolution - physiology</topic><topic>Clone Cells - metabolism</topic><topic>Clone Cells - pathology</topic><topic>epithelioid hemangioendothelioma</topic><topic>Female</topic><topic>Hemangioendothelioma, Epithelioid - genetics</topic><topic>Hemangioendothelioma, Epithelioid - pathology</topic><topic>Hematology, Oncology and Palliative Medicine</topic><topic>Humans</topic><topic>Intracellular Signaling Peptides and Proteins - analysis</topic><topic>Intracellular Signaling Peptides and Proteins - genetics</topic><topic>Liver Neoplasms - genetics</topic><topic>Liver Neoplasms - pathology</topic><topic>Male</topic><topic>Medical Education</topic><topic>metastasis</topic><topic>Molecular Sequence Data</topic><topic>monoclonality</topic><topic>multifocality</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Neoplasms, Multiple Primary - pathology</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>Sequence Analysis, DNA</topic><topic>Trans-Activators - analysis</topic><topic>Trans-Activators - genetics</topic><topic>Vascular tumor</topic><topic>WWTR1-CAMTA1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Errani, Costantino</creatorcontrib><creatorcontrib>Sung, Yun Shao</creatorcontrib><creatorcontrib>Zhang, Lei</creatorcontrib><creatorcontrib>Healey, John H</creatorcontrib><creatorcontrib>Antonescu, Cristina R</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</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>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cancer genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Errani, Costantino</au><au>Sung, Yun Shao</au><au>Zhang, Lei</au><au>Healey, John H</au><au>Antonescu, Cristina R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1 - CAMTA1 breakpoints</atitle><jtitle>Cancer genetics</jtitle><addtitle>Cancer Genet</addtitle><date>2012-01-01</date><risdate>2012</risdate><volume>205</volume><issue>1</issue><spage>12</spage><epage>17</epage><pages>12-17</pages><issn>2210-7762</issn><eissn>2210-7770</eissn><eissn>2210-7762</eissn><abstract>Similar to other vascular tumors, epithelioid hemangioendothelioma (EHE) can have multifocal presentation in up to 50% of cases. However, whether multifocal EHE represents an unusual pattern of metastasis or multiple separate primary tumors remains to be elucidated. Our recent identification of a WWTR1 - CAMTA1 fusion as the genetic hallmark of EHE irrespective of anatomic location was used to clarify this question by comparing the similarity of translocation breakpoints. In our previous study, we found variability of the fusion transcripts of the t(1;3)(p36;q25) translocation among different patients with EHE. Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE. Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1 - CAMTA1 fusion transcript product from different nodules in each patient. Our results confirm that multifocal EHE are monoclonal and thus represent metastatic implants of the same neoplastic clone rather than a “field-effect” or synchronous occurrence of multiple neoplastic clones.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>22429593</pmid><doi>10.1016/j.cancergen.2011.10.008</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Base Sequence Calcium-Binding Proteins - analysis Calcium-Binding Proteins - genetics Chromosome Breakpoints Clonal Evolution - genetics Clonal Evolution - physiology Clone Cells - metabolism Clone Cells - pathology epithelioid hemangioendothelioma Female Hemangioendothelioma, Epithelioid - genetics Hemangioendothelioma, Epithelioid - pathology Hematology, Oncology and Palliative Medicine Humans Intracellular Signaling Peptides and Proteins - analysis Intracellular Signaling Peptides and Proteins - genetics Liver Neoplasms - genetics Liver Neoplasms - pathology Male Medical Education metastasis Molecular Sequence Data monoclonality multifocality Neoplasms, Multiple Primary - genetics Neoplasms, Multiple Primary - pathology Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Trans-Activators - analysis Trans-Activators - genetics Vascular tumor WWTR1-CAMTA1 |
| title | Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1 - CAMTA1 breakpoints |
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