Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome
Summary Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DI...
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| Veröffentlicht in: | Human pathology 2015-06, Vol.46 (6), p.917-922 |
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| creator | de Kock, Leanne, B-Tech Druker, Harriet, MSc Weber, Evan, BSc Hamel, Nancy, MSc Traubici, Jeffrey, MD Malkin, David, MD, FRCPC Arseneau, Jocelyne, MD Stewart, Colin J.R., MBChB, FRCPath, FRCPA Bouron-Dal Soglio, Dorothée, MD, PhD Priest, John R., MD Foulkes, William D., MBBS, PhD |
| description | Summary Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1 -associated tumor types. These “hotspot” mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1 -associated tumors. |
| doi_str_mv | 10.1016/j.humpath.2015.02.008 |
| format | Article |
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Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1 -associated tumor types. These “hotspot” mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1 -associated tumors.</description><identifier>ISSN: 0046-8177</identifier><identifier>EISSN: 1532-8392</identifier><identifier>DOI: 10.1016/j.humpath.2015.02.008</identifier><identifier>PMID: 25836323</identifier><language>eng</language><publisher>United States: Elsevier Limited</publisher><subject>Abdomen ; Age ; Child ; DEAD-box RNA Helicases - genetics ; DEAD-box RNA Helicases - metabolism ; Female ; Humans ; Medical research ; MicroRNAs - genetics ; Mutation ; Mutation - genetics ; Ovarian Neoplasms - diagnosis ; Ovarian Neoplasms - genetics ; Ovarian Neoplasms - pathology ; Pathology ; Phenotype ; Proteins ; Rhabdomyosarcoma, Embryonal - diagnosis ; Rhabdomyosarcoma, Embryonal - genetics ; Rhabdomyosarcoma, Embryonal - pathology ; Ribonuclease III - genetics ; Ribonuclease III - metabolism ; Tumorigenesis ; Tumors</subject><ispartof>Human pathology, 2015-06, Vol.46 (6), p.917-922</ispartof><rights>Elsevier Inc.</rights><rights>Copyright © 2015 Elsevier Inc. All rights reserved.</rights><rights>Copyright Elsevier Limited Jun 2015</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c509t-b98920da43bfd4897e362a765e8ec969f37f62008d8193937905a558bdd7a01e3</citedby><cites>FETCH-LOGICAL-c509t-b98920da43bfd4897e362a765e8ec969f37f62008d8193937905a558bdd7a01e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25836323$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de Kock, Leanne, B-Tech</creatorcontrib><creatorcontrib>Druker, Harriet, MSc</creatorcontrib><creatorcontrib>Weber, Evan, BSc</creatorcontrib><creatorcontrib>Hamel, Nancy, MSc</creatorcontrib><creatorcontrib>Traubici, Jeffrey, MD</creatorcontrib><creatorcontrib>Malkin, David, MD, FRCPC</creatorcontrib><creatorcontrib>Arseneau, Jocelyne, MD</creatorcontrib><creatorcontrib>Stewart, Colin J.R., MBChB, FRCPath, FRCPA</creatorcontrib><creatorcontrib>Bouron-Dal Soglio, Dorothée, MD, PhD</creatorcontrib><creatorcontrib>Priest, John R., MD</creatorcontrib><creatorcontrib>Foulkes, William D., MBBS, PhD</creatorcontrib><title>Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome</title><title>Human pathology</title><addtitle>Hum Pathol</addtitle><description>Summary Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1 -associated tumor types. These “hotspot” mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1 -associated tumors.</description><subject>Abdomen</subject><subject>Age</subject><subject>Child</subject><subject>DEAD-box RNA Helicases - genetics</subject><subject>DEAD-box RNA Helicases - metabolism</subject><subject>Female</subject><subject>Humans</subject><subject>Medical research</subject><subject>MicroRNAs - genetics</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Ovarian Neoplasms - diagnosis</subject><subject>Ovarian Neoplasms - genetics</subject><subject>Ovarian Neoplasms - pathology</subject><subject>Pathology</subject><subject>Phenotype</subject><subject>Proteins</subject><subject>Rhabdomyosarcoma, Embryonal - diagnosis</subject><subject>Rhabdomyosarcoma, Embryonal - genetics</subject><subject>Rhabdomyosarcoma, Embryonal - pathology</subject><subject>Ribonuclease III - genetics</subject><subject>Ribonuclease III - metabolism</subject><subject>Tumorigenesis</subject><subject>Tumors</subject><issn>0046-8177</issn><issn>1532-8392</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU2L1EAQhhtR3NnVn6A0ePGSWN2d_roIMq7rwsLiF3hrKkmHyZikx-5kIf_eHmdU8FSXp17eeoqQFwxKBky92Ze7ZTzgvCs5MFkCLwHMI7JhUvDCCMsfkw1ApQrDtL4glyntARiTlXxKLrg0QgkuNuTT_QPGHifqxzquYcKBxh3WbRjXkDA2YUTaJ4o0YvR0xKnvfJpx7sNEQ0fnnafvb7fXnxlN69TGMPpn5EmHQ_LPz_OKfPtw_XX7sbi7v7ndvrsrGgl2LmprLIcWK1F3bWWs9kJx1Ep64xurbCd0p3i-qTXMCiu0BYlSmrptNQLz4oq8PuUeYvi55FJu7FPjhwEnH5bkmDLAjKi0yeir_9B9WGK-9TfFlKwMqEzJE9XEkFL0nTvEfsS4Ogbu6Nzt3dm5Ozp3wF3ul_dentOXevTt360_kjPw9gT4rOOh99E1Qz_1DQ4__OrTvy4u5UT35fi249eYBABdfRe_AELhkuE</recordid><startdate>20150601</startdate><enddate>20150601</enddate><creator>de Kock, Leanne, B-Tech</creator><creator>Druker, Harriet, MSc</creator><creator>Weber, Evan, BSc</creator><creator>Hamel, Nancy, MSc</creator><creator>Traubici, Jeffrey, MD</creator><creator>Malkin, David, MD, FRCPC</creator><creator>Arseneau, Jocelyne, MD</creator><creator>Stewart, Colin J.R., MBChB, FRCPath, FRCPA</creator><creator>Bouron-Dal Soglio, Dorothée, MD, PhD</creator><creator>Priest, John R., MD</creator><creator>Foulkes, William D., MBBS, PhD</creator><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>20150601</creationdate><title>Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome</title><author>de Kock, Leanne, B-Tech ; Druker, Harriet, MSc ; Weber, Evan, BSc ; Hamel, Nancy, MSc ; Traubici, Jeffrey, MD ; Malkin, David, MD, FRCPC ; Arseneau, Jocelyne, MD ; Stewart, Colin J.R., MBChB, FRCPath, FRCPA ; Bouron-Dal Soglio, Dorothée, MD, PhD ; Priest, John R., MD ; Foulkes, William D., MBBS, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c509t-b98920da43bfd4897e362a765e8ec969f37f62008d8193937905a558bdd7a01e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Abdomen</topic><topic>Age</topic><topic>Child</topic><topic>DEAD-box RNA Helicases - genetics</topic><topic>DEAD-box RNA Helicases - metabolism</topic><topic>Female</topic><topic>Humans</topic><topic>Medical research</topic><topic>MicroRNAs - genetics</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Ovarian Neoplasms - diagnosis</topic><topic>Ovarian Neoplasms - genetics</topic><topic>Ovarian Neoplasms - pathology</topic><topic>Pathology</topic><topic>Phenotype</topic><topic>Proteins</topic><topic>Rhabdomyosarcoma, Embryonal - diagnosis</topic><topic>Rhabdomyosarcoma, Embryonal - genetics</topic><topic>Rhabdomyosarcoma, Embryonal - pathology</topic><topic>Ribonuclease III - genetics</topic><topic>Ribonuclease III - metabolism</topic><topic>Tumorigenesis</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Kock, Leanne, B-Tech</creatorcontrib><creatorcontrib>Druker, Harriet, MSc</creatorcontrib><creatorcontrib>Weber, Evan, BSc</creatorcontrib><creatorcontrib>Hamel, Nancy, MSc</creatorcontrib><creatorcontrib>Traubici, Jeffrey, MD</creatorcontrib><creatorcontrib>Malkin, David, MD, FRCPC</creatorcontrib><creatorcontrib>Arseneau, Jocelyne, MD</creatorcontrib><creatorcontrib>Stewart, Colin J.R., MBChB, FRCPath, FRCPA</creatorcontrib><creatorcontrib>Bouron-Dal Soglio, Dorothée, MD, PhD</creatorcontrib><creatorcontrib>Priest, John R., MD</creatorcontrib><creatorcontrib>Foulkes, William D., MBBS, PhD</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>de Kock, Leanne, B-Tech</au><au>Druker, Harriet, MSc</au><au>Weber, Evan, BSc</au><au>Hamel, Nancy, MSc</au><au>Traubici, Jeffrey, MD</au><au>Malkin, David, MD, FRCPC</au><au>Arseneau, Jocelyne, MD</au><au>Stewart, Colin J.R., MBChB, FRCPath, FRCPA</au><au>Bouron-Dal Soglio, Dorothée, MD, PhD</au><au>Priest, John R., MD</au><au>Foulkes, William D., MBBS, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome</atitle><jtitle>Human pathology</jtitle><addtitle>Hum Pathol</addtitle><date>2015-06-01</date><risdate>2015</risdate><volume>46</volume><issue>6</issue><spage>917</spage><epage>922</epage><pages>917-922</pages><issn>0046-8177</issn><eissn>1532-8392</eissn><abstract>Summary Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1 -associated tumor types. These “hotspot” mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1 -associated tumors.</abstract><cop>United States</cop><pub>Elsevier Limited</pub><pmid>25836323</pmid><doi>10.1016/j.humpath.2015.02.008</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abdomen Age Child DEAD-box RNA Helicases - genetics DEAD-box RNA Helicases - metabolism Female Humans Medical research MicroRNAs - genetics Mutation Mutation - genetics Ovarian Neoplasms - diagnosis Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Pathology Phenotype Proteins Rhabdomyosarcoma, Embryonal - diagnosis Rhabdomyosarcoma, Embryonal - genetics Rhabdomyosarcoma, Embryonal - pathology Ribonuclease III - genetics Ribonuclease III - metabolism Tumorigenesis Tumors |
| title | Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome |
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