Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression
Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in
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| Veröffentlicht in: | Human pathology 2017-04, Vol.62, p.170-174 |
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| container_title | Human pathology |
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| creator | Zreik, Riyam T., MD Littrell, Laurel A., MD Jin, Long, MD Oliveira, Andre M., MD Fritchie, Karen J., MD |
| description | Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in |
| doi_str_mv | 10.1016/j.humpath.2016.09.030 |
| format | Article |
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We report a case of a large proximal femur mass arising in a 45-year-old man. The biopsy revealed a high-grade pleomorphic malignancy that focally expressed multiple keratins. Based on the presence of keratin immunoreactivity, the morphologic differential diagnosis included metastatic sarcomatoid carcinoma. However, review of the clinical information revealed a history of polyostotic FD, and imaging findings were compatible with malignant transformation of FD. The resected neoplasm was biphasic and composed of areas of conventional FD admixed with a high grade pleomorphic malignancy. Activating GNAS (guanine nucleotide–binding protein/ [alpha]-subunit) mutations were identified in both components. To the best of our knowledge, this is the first description of keratin expression in malignant transformation of fibrous dysplasia.</description><identifier>ISSN: 0046-8177</identifier><identifier>EISSN: 1532-8392</identifier><identifier>DOI: 10.1016/j.humpath.2016.09.030</identifier><identifier>PMID: 27771377</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Biomarkers, Tumor - analysis ; Biomarkers, Tumor - genetics ; Biopsy ; Bone cancer ; Bones ; Cell Transformation, Neoplastic - chemistry ; Cell Transformation, Neoplastic - genetics ; Cell Transformation, Neoplastic - pathology ; Chromogranins - genetics ; DNA Mutational Analysis ; Femoral Neoplasms - chemistry ; Femoral Neoplasms - genetics ; Femoral Neoplasms - pathology ; Femoral Neoplasms - surgery ; Fibrous dysplasia ; Fibrous Dysplasia, Polyostotic - pathology ; GNAS ; GTP-Binding Protein alpha Subunits, Gs - genetics ; Hip joint ; Humans ; Immunohistochemistry ; Keratin ; Keratins - analysis ; Male ; Malignant transformation ; Medical imaging ; Metastasis ; Middle Aged ; Mutation ; NMR ; Nuclear magnetic resonance ; Osteotomy ; Pain ; Pathology ; Polymerase chain reaction ; Polyostotic ; Tumors</subject><ispartof>Human pathology, 2017-04, Vol.62, p.170-174</ispartof><rights>2017 Elsevier Inc.</rights><rights>Copyright © 2017 Elsevier Inc. All rights reserved.</rights><rights>Copyright Elsevier Limited Apr 1, 2017</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c448t-acb16f9365daf93dc5df2f4c3db30b60436b3b4892a0d88a5d1cb2fa3177c13b3</citedby><cites>FETCH-LOGICAL-c448t-acb16f9365daf93dc5df2f4c3db30b60436b3b4892a0d88a5d1cb2fa3177c13b3</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.2016.09.030$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27771377$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zreik, Riyam T., MD</creatorcontrib><creatorcontrib>Littrell, Laurel A., MD</creatorcontrib><creatorcontrib>Jin, Long, MD</creatorcontrib><creatorcontrib>Oliveira, Andre M., MD</creatorcontrib><creatorcontrib>Fritchie, Karen J., MD</creatorcontrib><title>Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression</title><title>Human pathology</title><addtitle>Hum Pathol</addtitle><description>Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in <1% of all FD cases, and has been described in both monostotic and polyostotic forms of this entity. We report a case of a large proximal femur mass arising in a 45-year-old man. The biopsy revealed a high-grade pleomorphic malignancy that focally expressed multiple keratins. Based on the presence of keratin immunoreactivity, the morphologic differential diagnosis included metastatic sarcomatoid carcinoma. However, review of the clinical information revealed a history of polyostotic FD, and imaging findings were compatible with malignant transformation of FD. The resected neoplasm was biphasic and composed of areas of conventional FD admixed with a high grade pleomorphic malignancy. Activating GNAS (guanine nucleotide–binding protein/ [alpha]-subunit) mutations were identified in both components. To the best of our knowledge, this is the first description of keratin expression in malignant transformation of fibrous dysplasia.</description><subject>Biomarkers, Tumor - analysis</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Biopsy</subject><subject>Bone cancer</subject><subject>Bones</subject><subject>Cell Transformation, Neoplastic - chemistry</subject><subject>Cell Transformation, Neoplastic - genetics</subject><subject>Cell Transformation, Neoplastic - pathology</subject><subject>Chromogranins - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Femoral Neoplasms - chemistry</subject><subject>Femoral Neoplasms - genetics</subject><subject>Femoral Neoplasms - pathology</subject><subject>Femoral Neoplasms - surgery</subject><subject>Fibrous dysplasia</subject><subject>Fibrous Dysplasia, Polyostotic - pathology</subject><subject>GNAS</subject><subject>GTP-Binding Protein alpha Subunits, Gs - genetics</subject><subject>Hip joint</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Keratin</subject><subject>Keratins - analysis</subject><subject>Male</subject><subject>Malignant transformation</subject><subject>Medical imaging</subject><subject>Metastasis</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><subject>Osteotomy</subject><subject>Pain</subject><subject>Pathology</subject><subject>Polymerase chain reaction</subject><subject>Polyostotic</subject><subject>Tumors</subject><issn>0046-8177</issn><issn>1532-8392</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFksuO1DAQRS0EYpqBTwBFYsMmwY_YTjYgNOIlDWIBbNhYftLuSexgO0D_PY66AWk2rEolnXur6qoAeIxghyBizw_dfp0XWfYdrm0Hxw4SeAfsECW4HciI74IdhD1rB8T5BXiQ8wFChGhP74MLzDlHhPMd-PpBTv5bkKE0JcmQXUyzLD6GJrpmidMx5hKL143zKsU1N-aYl0lmL5ufvuwbqWxKm_rGpqoLjf21JJtzdXgI7jk5ZfvoXC_BlzevP1-9a68_vn1_9eq61X0_lFZqhZgbCaNG1mI0NQ67XhOjCFQM9oQpovphxBKaYZDUIK2wk6TepRFR5BI8O_kuKX5fbS5i9lnbaZLB1o0FGgilGI4YVfTpLfQQ1xTqdpUa-MgZJKRS9ETpFHNO1okl-Vmmo0BQbOGLgziHL7bwBRxFDb_qnpzdVzVb81f1J-0KvDwBtsbxw9sksvY2aGt8sroIE_1_R7y45aAnH7yW04092vzvGpGxgOLT9gHbAyBGIKaUkd93pK8w</recordid><startdate>20170401</startdate><enddate>20170401</enddate><creator>Zreik, Riyam T., MD</creator><creator>Littrell, Laurel A., MD</creator><creator>Jin, Long, MD</creator><creator>Oliveira, Andre M., MD</creator><creator>Fritchie, Karen J., MD</creator><general>Elsevier Inc</general><general>Elsevier Limited</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>K9.</scope><scope>7X8</scope></search><sort><creationdate>20170401</creationdate><title>Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression</title><author>Zreik, Riyam T., MD ; Littrell, Laurel A., MD ; Jin, Long, MD ; Oliveira, Andre M., MD ; Fritchie, Karen J., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c448t-acb16f9365daf93dc5df2f4c3db30b60436b3b4892a0d88a5d1cb2fa3177c13b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Biomarkers, Tumor - analysis</topic><topic>Biomarkers, Tumor - genetics</topic><topic>Biopsy</topic><topic>Bone cancer</topic><topic>Bones</topic><topic>Cell Transformation, Neoplastic - chemistry</topic><topic>Cell Transformation, Neoplastic - genetics</topic><topic>Cell Transformation, Neoplastic - pathology</topic><topic>Chromogranins - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Femoral Neoplasms - chemistry</topic><topic>Femoral Neoplasms - genetics</topic><topic>Femoral Neoplasms - pathology</topic><topic>Femoral Neoplasms - surgery</topic><topic>Fibrous dysplasia</topic><topic>Fibrous Dysplasia, Polyostotic - pathology</topic><topic>GNAS</topic><topic>GTP-Binding Protein alpha Subunits, Gs - genetics</topic><topic>Hip joint</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Keratin</topic><topic>Keratins - analysis</topic><topic>Male</topic><topic>Malignant transformation</topic><topic>Medical imaging</topic><topic>Metastasis</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>NMR</topic><topic>Nuclear magnetic resonance</topic><topic>Osteotomy</topic><topic>Pain</topic><topic>Pathology</topic><topic>Polymerase chain reaction</topic><topic>Polyostotic</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zreik, Riyam T., MD</creatorcontrib><creatorcontrib>Littrell, Laurel A., MD</creatorcontrib><creatorcontrib>Jin, Long, MD</creatorcontrib><creatorcontrib>Oliveira, Andre M., MD</creatorcontrib><creatorcontrib>Fritchie, Karen J., MD</creatorcontrib><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><jtitle>Human pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zreik, Riyam T., MD</au><au>Littrell, Laurel A., MD</au><au>Jin, Long, MD</au><au>Oliveira, Andre M., MD</au><au>Fritchie, Karen J., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression</atitle><jtitle>Human pathology</jtitle><addtitle>Hum Pathol</addtitle><date>2017-04-01</date><risdate>2017</risdate><volume>62</volume><spage>170</spage><epage>174</epage><pages>170-174</pages><issn>0046-8177</issn><eissn>1532-8392</eissn><abstract>Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in <1% of all FD cases, and has been described in both monostotic and polyostotic forms of this entity. We report a case of a large proximal femur mass arising in a 45-year-old man. The biopsy revealed a high-grade pleomorphic malignancy that focally expressed multiple keratins. Based on the presence of keratin immunoreactivity, the morphologic differential diagnosis included metastatic sarcomatoid carcinoma. However, review of the clinical information revealed a history of polyostotic FD, and imaging findings were compatible with malignant transformation of FD. The resected neoplasm was biphasic and composed of areas of conventional FD admixed with a high grade pleomorphic malignancy. Activating GNAS (guanine nucleotide–binding protein/ [alpha]-subunit) mutations were identified in both components. To the best of our knowledge, this is the first description of keratin expression in malignant transformation of fibrous dysplasia.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>27771377</pmid><doi>10.1016/j.humpath.2016.09.030</doi><tpages>5</tpages></addata></record> |
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| subjects | Biomarkers, Tumor - analysis Biomarkers, Tumor - genetics Biopsy Bone cancer Bones Cell Transformation, Neoplastic - chemistry Cell Transformation, Neoplastic - genetics Cell Transformation, Neoplastic - pathology Chromogranins - genetics DNA Mutational Analysis Femoral Neoplasms - chemistry Femoral Neoplasms - genetics Femoral Neoplasms - pathology Femoral Neoplasms - surgery Fibrous dysplasia Fibrous Dysplasia, Polyostotic - pathology GNAS GTP-Binding Protein alpha Subunits, Gs - genetics Hip joint Humans Immunohistochemistry Keratin Keratins - analysis Male Malignant transformation Medical imaging Metastasis Middle Aged Mutation NMR Nuclear magnetic resonance Osteotomy Pain Pathology Polymerase chain reaction Polyostotic Tumors |
| title | Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression |
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