Identification of t(17;22)(q22;q13) ( COL1A1/PDGFB ) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays
Summary Dermatofibrosarcoma protuberans is genetically characterized by the translocation t(17;22)(q22;q13) resulting in the PDGFB/COL1A1 fusion gene. Fluorescence in situ hybridization with specific probes enables a rapid detection of this gene. In this study, the presence of the translocation t(17...
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| Veröffentlicht in: | Human pathology 2011-02, Vol.42 (2), p.176-184 |
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| creator | Segura, Sonia, MD Salgado, Rocío, MSc Toll, Agustí, MD Martín-Ezquerra, Gemma, MD Yébenes, Mireia, MD Sáez, Amparo, MD Solé, Francesc, PhD Barranco, Carlos, MD Umbert, Pablo, MD Espinet, Blanca, PhD Pujol, Ramón M., MD |
| description | Summary Dermatofibrosarcoma protuberans is genetically characterized by the translocation t(17;22)(q22;q13) resulting in the PDGFB/COL1A1 fusion gene. Fluorescence in situ hybridization with specific probes enables a rapid detection of this gene. In this study, the presence of the translocation t(17;22)(q22;q13) by fluorescence in situ hybridization in paraffin-embedded tissue microarrays was analyzed. Two tissue microarrays including 40 cases of dermatofibrosarcoma protuberans and 20 dermatofibromas were evaluated. Fluorescence in situ hybridization analyses were performed using a dual-color dual-fusion noncommercial probe. Clinical and histopathologic features were examined, and the association with fluorescence in situ hybridization results was assessed. A total of 29 samples of dermatofibrosarcoma protuberans and 16 of dermatofibromas were successfully evaluated. Twenty-five (86%) dermatofibrosarcoma protuberans samples were positive for the translocation, which was absent in all samples of dermatofibromas. Two of the negative dermatofibrosarcoma protuberans showed unusual, hypercellular areas with marked cytologic atypia, whereas 1 case exhibited overlap features with dermatofibroma. Tumors with fibrosarcomatous areas seemed to have a higher percentage of positive cells and the number of copies of the COL1A1/PDFGB gene. In conclusion, the COL1A1/PDGFB fusion gene was present in most of the dermatofibrosarcoma protuberans tissue samples. The detection of the translocation may be an additional diagnostic tool in cases of dermatofibrosarcoma protuberans showing nonconclusive histologic features. |
| doi_str_mv | 10.1016/j.humpath.2010.07.015 |
| format | Article |
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Fluorescence in situ hybridization with specific probes enables a rapid detection of this gene. In this study, the presence of the translocation t(17;22)(q22;q13) by fluorescence in situ hybridization in paraffin-embedded tissue microarrays was analyzed. Two tissue microarrays including 40 cases of dermatofibrosarcoma protuberans and 20 dermatofibromas were evaluated. Fluorescence in situ hybridization analyses were performed using a dual-color dual-fusion noncommercial probe. Clinical and histopathologic features were examined, and the association with fluorescence in situ hybridization results was assessed. A total of 29 samples of dermatofibrosarcoma protuberans and 16 of dermatofibromas were successfully evaluated. Twenty-five (86%) dermatofibrosarcoma protuberans samples were positive for the translocation, which was absent in all samples of dermatofibromas. Two of the negative dermatofibrosarcoma protuberans showed unusual, hypercellular areas with marked cytologic atypia, whereas 1 case exhibited overlap features with dermatofibroma. Tumors with fibrosarcomatous areas seemed to have a higher percentage of positive cells and the number of copies of the COL1A1/PDFGB gene. In conclusion, the COL1A1/PDGFB fusion gene was present in most of the dermatofibrosarcoma protuberans tissue samples. The detection of the translocation may be an additional diagnostic tool in cases of dermatofibrosarcoma protuberans showing nonconclusive histologic features.</description><identifier>ISSN: 0046-8177</identifier><identifier>EISSN: 1532-8392</identifier><identifier>DOI: 10.1016/j.humpath.2010.07.015</identifier><identifier>PMID: 21111450</identifier><identifier>CODEN: HPCQA4</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Chromosomes ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 22 ; Collagen Type I - genetics ; Collagen Type I - metabolism ; Deoxyribonucleic acid ; Dermatofibrosarcoma - genetics ; Dermatofibrosarcoma - metabolism ; Dermatofibrosarcoma - pathology ; Dermatofibrosarcoma protuberans ; Dermatology ; Dermatopathology ; DNA ; Evolution ; Female ; Fluorescence in situ hybridization ; Genes ; Histiocytoma, Benign Fibrous - genetics ; Histiocytoma, Benign Fibrous - metabolism ; Histiocytoma, Benign Fibrous - pathology ; Humans ; Hybridization ; In Situ Hybridization, Fluorescence ; Investigative techniques, diagnostic techniques (general aspects) ; Male ; Medical sciences ; Middle Aged ; Oncogene Proteins, Fusion - genetics ; Oncogene Proteins, Fusion - metabolism ; Paraffin Embedding ; Pathology ; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques ; Proto-Oncogene Proteins c-sis - genetics ; Proto-Oncogene Proteins c-sis - metabolism ; Tissue Array Analysis ; Tissue microarrays ; Translocation, Genetic ; Tumors of the skin and soft tissue. Premalignant lesions ; Young Adult</subject><ispartof>Human pathology, 2011-02, Vol.42 (2), p.176-184</ispartof><rights>Elsevier Inc.</rights><rights>2011 Elsevier Inc.</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c509t-a63d7a6571d451bef921897790af12e135207355a3cf5700f3fd3da5cef8cca13</citedby><cites>FETCH-LOGICAL-c509t-a63d7a6571d451bef921897790af12e135207355a3cf5700f3fd3da5cef8cca13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.humpath.2010.07.015$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27907,27908,45978</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23870378$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21111450$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Segura, Sonia, MD</creatorcontrib><creatorcontrib>Salgado, Rocío, MSc</creatorcontrib><creatorcontrib>Toll, Agustí, MD</creatorcontrib><creatorcontrib>Martín-Ezquerra, Gemma, MD</creatorcontrib><creatorcontrib>Yébenes, Mireia, MD</creatorcontrib><creatorcontrib>Sáez, Amparo, MD</creatorcontrib><creatorcontrib>Solé, Francesc, PhD</creatorcontrib><creatorcontrib>Barranco, Carlos, MD</creatorcontrib><creatorcontrib>Umbert, Pablo, MD</creatorcontrib><creatorcontrib>Espinet, Blanca, PhD</creatorcontrib><creatorcontrib>Pujol, Ramón M., MD</creatorcontrib><title>Identification of t(17;22)(q22;q13) ( COL1A1/PDGFB ) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays</title><title>Human pathology</title><addtitle>Hum Pathol</addtitle><description>Summary Dermatofibrosarcoma protuberans is genetically characterized by the translocation t(17;22)(q22;q13) resulting in the PDGFB/COL1A1 fusion gene. Fluorescence in situ hybridization with specific probes enables a rapid detection of this gene. In this study, the presence of the translocation t(17;22)(q22;q13) by fluorescence in situ hybridization in paraffin-embedded tissue microarrays was analyzed. Two tissue microarrays including 40 cases of dermatofibrosarcoma protuberans and 20 dermatofibromas were evaluated. Fluorescence in situ hybridization analyses were performed using a dual-color dual-fusion noncommercial probe. Clinical and histopathologic features were examined, and the association with fluorescence in situ hybridization results was assessed. A total of 29 samples of dermatofibrosarcoma protuberans and 16 of dermatofibromas were successfully evaluated. Twenty-five (86%) dermatofibrosarcoma protuberans samples were positive for the translocation, which was absent in all samples of dermatofibromas. Two of the negative dermatofibrosarcoma protuberans showed unusual, hypercellular areas with marked cytologic atypia, whereas 1 case exhibited overlap features with dermatofibroma. Tumors with fibrosarcomatous areas seemed to have a higher percentage of positive cells and the number of copies of the COL1A1/PDFGB gene. In conclusion, the COL1A1/PDGFB fusion gene was present in most of the dermatofibrosarcoma protuberans tissue samples. The detection of the translocation may be an additional diagnostic tool in cases of dermatofibrosarcoma protuberans showing nonconclusive histologic features.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Chromosomes, Human, Pair 22</subject><subject>Collagen Type I - genetics</subject><subject>Collagen Type I - metabolism</subject><subject>Deoxyribonucleic acid</subject><subject>Dermatofibrosarcoma - genetics</subject><subject>Dermatofibrosarcoma - metabolism</subject><subject>Dermatofibrosarcoma - pathology</subject><subject>Dermatofibrosarcoma protuberans</subject><subject>Dermatology</subject><subject>Dermatopathology</subject><subject>DNA</subject><subject>Evolution</subject><subject>Female</subject><subject>Fluorescence in situ hybridization</subject><subject>Genes</subject><subject>Histiocytoma, Benign Fibrous - genetics</subject><subject>Histiocytoma, Benign Fibrous - metabolism</subject><subject>Histiocytoma, Benign Fibrous - pathology</subject><subject>Humans</subject><subject>Hybridization</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Oncogene Proteins, Fusion - genetics</subject><subject>Oncogene Proteins, Fusion - metabolism</subject><subject>Paraffin Embedding</subject><subject>Pathology</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</subject><subject>Proto-Oncogene Proteins c-sis - genetics</subject><subject>Proto-Oncogene Proteins c-sis - metabolism</subject><subject>Tissue Array Analysis</subject><subject>Tissue microarrays</subject><subject>Translocation, Genetic</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><subject>Young Adult</subject><issn>0046-8177</issn><issn>1532-8392</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkl9rFDEQwBdRbK1-BCUgxbuHvU6SzWaXglJPWwsHFdTnkM0fLufu5i7ZFc7v4_c0y50W-tK8BIbfTGbymyx7jWGBAZcXm8V67LZyWC8IpBjwBWD2JDvFjJK8ojV5mp0CFGVeYc5PshcxbgAwZgV7np0QnE7B4DT7c6tNPzjrlByc75G3aJhhfknIfLYj5HKH6RzN0PJuha_wxddPN9cf0Ry5HmkTOjl465rgowzKdxJtgx_GxgTZR9TskW1HH0xUpldmSoluGNF63wSn3e_Dcym6lUFa6_rcdI3R2mg0uBhHgzqngpchyH18mT2zso3m1fE-y35cf_6-_JKv7m5ul1erXDGoh1yWVHNZMo51wXBjbE1wVXNeg7SYGEwZAU4Zk1RZxgEstZpqyZSxlVIS07Ps3aFummQ3mjiIzqX-21b2xo9RVLwuOMUFPE4WtMCEsjKRbx-QGz-GPo0hMNCiqqHkdaLYgUozxxiMFdvgOhn2CRKTcLERR-FiEi6AiyQ85b05Vh-bzuj_Wf8MJ-D8CMioZGuTHOXiPUcrDpRXiftw4Ez631_OBBGVm8xpF4wahPbu0VbeP6igWtenxWp_mr2J91OLSASIb9N2TsuJAYBUScxf72nfWA</recordid><startdate>20110201</startdate><enddate>20110201</enddate><creator>Segura, Sonia, MD</creator><creator>Salgado, Rocío, MSc</creator><creator>Toll, Agustí, MD</creator><creator>Martín-Ezquerra, Gemma, MD</creator><creator>Yébenes, Mireia, MD</creator><creator>Sáez, Amparo, MD</creator><creator>Solé, Francesc, PhD</creator><creator>Barranco, Carlos, MD</creator><creator>Umbert, Pablo, MD</creator><creator>Espinet, Blanca, PhD</creator><creator>Pujol, Ramón M., MD</creator><general>Elsevier Inc</general><general>Elsevier</general><general>Elsevier Limited</general><scope>IQODW</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>K9.</scope><scope>7X8</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope></search><sort><creationdate>20110201</creationdate><title>Identification of t(17;22)(q22;q13) ( COL1A1/PDGFB ) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays</title><author>Segura, Sonia, MD ; Salgado, Rocío, MSc ; Toll, Agustí, MD ; Martín-Ezquerra, Gemma, MD ; Yébenes, Mireia, MD ; Sáez, Amparo, MD ; Solé, Francesc, PhD ; Barranco, Carlos, MD ; Umbert, Pablo, MD ; Espinet, Blanca, PhD ; Pujol, Ramón M., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c509t-a63d7a6571d451bef921897790af12e135207355a3cf5700f3fd3da5cef8cca13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Chromosomes, Human, Pair 22</topic><topic>Collagen Type I - genetics</topic><topic>Collagen Type I - metabolism</topic><topic>Deoxyribonucleic acid</topic><topic>Dermatofibrosarcoma - genetics</topic><topic>Dermatofibrosarcoma - metabolism</topic><topic>Dermatofibrosarcoma - pathology</topic><topic>Dermatofibrosarcoma protuberans</topic><topic>Dermatology</topic><topic>Dermatopathology</topic><topic>DNA</topic><topic>Evolution</topic><topic>Female</topic><topic>Fluorescence in situ hybridization</topic><topic>Genes</topic><topic>Histiocytoma, Benign Fibrous - genetics</topic><topic>Histiocytoma, Benign Fibrous - metabolism</topic><topic>Histiocytoma, Benign Fibrous - pathology</topic><topic>Humans</topic><topic>Hybridization</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Oncogene Proteins, Fusion - genetics</topic><topic>Oncogene Proteins, Fusion - metabolism</topic><topic>Paraffin Embedding</topic><topic>Pathology</topic><topic>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</topic><topic>Proto-Oncogene Proteins c-sis - genetics</topic><topic>Proto-Oncogene Proteins c-sis - metabolism</topic><topic>Tissue Array Analysis</topic><topic>Tissue microarrays</topic><topic>Translocation, Genetic</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Segura, Sonia, MD</creatorcontrib><creatorcontrib>Salgado, Rocío, MSc</creatorcontrib><creatorcontrib>Toll, Agustí, MD</creatorcontrib><creatorcontrib>Martín-Ezquerra, Gemma, MD</creatorcontrib><creatorcontrib>Yébenes, Mireia, MD</creatorcontrib><creatorcontrib>Sáez, Amparo, MD</creatorcontrib><creatorcontrib>Solé, Francesc, PhD</creatorcontrib><creatorcontrib>Barranco, Carlos, MD</creatorcontrib><creatorcontrib>Umbert, Pablo, MD</creatorcontrib><creatorcontrib>Espinet, Blanca, PhD</creatorcontrib><creatorcontrib>Pujol, Ramón M., MD</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><jtitle>Human pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Segura, Sonia, MD</au><au>Salgado, Rocío, MSc</au><au>Toll, Agustí, MD</au><au>Martín-Ezquerra, Gemma, MD</au><au>Yébenes, Mireia, MD</au><au>Sáez, Amparo, MD</au><au>Solé, Francesc, PhD</au><au>Barranco, Carlos, MD</au><au>Umbert, Pablo, MD</au><au>Espinet, Blanca, PhD</au><au>Pujol, Ramón M., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of t(17;22)(q22;q13) ( COL1A1/PDGFB ) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays</atitle><jtitle>Human pathology</jtitle><addtitle>Hum Pathol</addtitle><date>2011-02-01</date><risdate>2011</risdate><volume>42</volume><issue>2</issue><spage>176</spage><epage>184</epage><pages>176-184</pages><issn>0046-8177</issn><eissn>1532-8392</eissn><coden>HPCQA4</coden><abstract>Summary Dermatofibrosarcoma protuberans is genetically characterized by the translocation t(17;22)(q22;q13) resulting in the PDGFB/COL1A1 fusion gene. Fluorescence in situ hybridization with specific probes enables a rapid detection of this gene. In this study, the presence of the translocation t(17;22)(q22;q13) by fluorescence in situ hybridization in paraffin-embedded tissue microarrays was analyzed. Two tissue microarrays including 40 cases of dermatofibrosarcoma protuberans and 20 dermatofibromas were evaluated. Fluorescence in situ hybridization analyses were performed using a dual-color dual-fusion noncommercial probe. Clinical and histopathologic features were examined, and the association with fluorescence in situ hybridization results was assessed. A total of 29 samples of dermatofibrosarcoma protuberans and 16 of dermatofibromas were successfully evaluated. Twenty-five (86%) dermatofibrosarcoma protuberans samples were positive for the translocation, which was absent in all samples of dermatofibromas. Two of the negative dermatofibrosarcoma protuberans showed unusual, hypercellular areas with marked cytologic atypia, whereas 1 case exhibited overlap features with dermatofibroma. Tumors with fibrosarcomatous areas seemed to have a higher percentage of positive cells and the number of copies of the COL1A1/PDFGB gene. In conclusion, the COL1A1/PDGFB fusion gene was present in most of the dermatofibrosarcoma protuberans tissue samples. The detection of the translocation may be an additional diagnostic tool in cases of dermatofibrosarcoma protuberans showing nonconclusive histologic features.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>21111450</pmid><doi>10.1016/j.humpath.2010.07.015</doi><tpages>9</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Chromosomes Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 22 Collagen Type I - genetics Collagen Type I - metabolism Deoxyribonucleic acid Dermatofibrosarcoma - genetics Dermatofibrosarcoma - metabolism Dermatofibrosarcoma - pathology Dermatofibrosarcoma protuberans Dermatology Dermatopathology DNA Evolution Female Fluorescence in situ hybridization Genes Histiocytoma, Benign Fibrous - genetics Histiocytoma, Benign Fibrous - metabolism Histiocytoma, Benign Fibrous - pathology Humans Hybridization In Situ Hybridization, Fluorescence Investigative techniques, diagnostic techniques (general aspects) Male Medical sciences Middle Aged Oncogene Proteins, Fusion - genetics Oncogene Proteins, Fusion - metabolism Paraffin Embedding Pathology Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Proto-Oncogene Proteins c-sis - genetics Proto-Oncogene Proteins c-sis - metabolism Tissue Array Analysis Tissue microarrays Translocation, Genetic Tumors of the skin and soft tissue. Premalignant lesions Young Adult |
| title | Identification of t(17;22)(q22;q13) ( COL1A1/PDGFB ) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays |
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