Clonal evidence for the development of neuroblastoma with extensive copy‐neutral loss of heterozygosity arising in a mature teratoma
Mature teratomas are usually benign tumors that rarely undergo malignant transformation. We report an advanced neuroblastoma arising in a mature teratoma of the ovary. Whole‐exome sequencing identified extensive copy‐neutral loss of heterozygosity (LOH) in both neuroblastoma and teratoma elements, s...
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| Veröffentlicht in: | Cancer science 2021-07, Vol.112 (7), p.2921-2927 |
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| creator | Ono, Rintaro Ueno, Hiroo Yoshida, Kenichi Takahashi, Satoko Yoshihara, Hiroki Nozaki, Taiki Suzuki, Koyu Nakazawa, Atsuko Saiki, Ryunosuke Seki, Masafumi Takita, Junko Ogawa, Seishi Manabe, Atsushi Hasegawa, Daisuke |
| description | Mature teratomas are usually benign tumors that rarely undergo malignant transformation. We report an advanced neuroblastoma arising in a mature teratoma of the ovary. Whole‐exome sequencing identified extensive copy‐neutral loss of heterozygosity (LOH) in both neuroblastoma and teratoma elements, suggesting that the neuroblastoma evolved from the teratoma. In addition, several truncating germline heterozygous variants in tumor suppressor genes, including RBL2 and FBXW12, became homozygous as a result of LOH. Collectively, we speculate that extensive LOH in teratoma cells may force heterozygous germline variants to become homozygous, which, in turn, may contribute to the development of neuroblastoma with the acquisition of additional chromosomal changes.
A model of malignant transformation from teratoma to neuroblastoma. |
| doi_str_mv | 10.1111/cas.14931 |
| format | Article |
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A model of malignant transformation from teratoma to neuroblastoma.</description><identifier>ISSN: 1347-9032</identifier><identifier>EISSN: 1349-7006</identifier><identifier>DOI: 10.1111/cas.14931</identifier><identifier>PMID: 33934450</identifier><language>eng</language><publisher>England: John Wiley & Sons, Inc</publisher><subject>Analysis ; cancer genome/genetics ; Case Report ; Chemotherapy ; copy‐neutral loss of heterozygosity ; Genes ; Genomes ; genomic analysis ; Genomics ; Heterozygosity ; Loss of heterozygosity ; Lymphatic system ; malignant transformation ; Mutation ; Neuroblastoma ; Ovaries ; Scintigraphy ; Teratoma ; Transplants & implants ; Tumor suppressor genes ; Tumors ; Vincristine</subject><ispartof>Cancer science, 2021-07, Vol.112 (7), p.2921-2927</ispartof><rights>2021 The Authors. published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.</rights><rights>2021 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.</rights><rights>COPYRIGHT 2021 John Wiley & Sons, Inc.</rights><rights>2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5671-9b574ca40758cf3bf17db14581e1cc46b77cf5a31530a387b920edf2e120c9693</citedby><cites>FETCH-LOGICAL-c5671-9b574ca40758cf3bf17db14581e1cc46b77cf5a31530a387b920edf2e120c9693</cites><orcidid>0000-0001-8847-2528</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253283/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253283/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,723,776,780,860,881,1411,11541,27901,27902,45550,45551,46027,46451,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33934450$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:146473011$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Ono, Rintaro</creatorcontrib><creatorcontrib>Ueno, Hiroo</creatorcontrib><creatorcontrib>Yoshida, Kenichi</creatorcontrib><creatorcontrib>Takahashi, Satoko</creatorcontrib><creatorcontrib>Yoshihara, Hiroki</creatorcontrib><creatorcontrib>Nozaki, Taiki</creatorcontrib><creatorcontrib>Suzuki, Koyu</creatorcontrib><creatorcontrib>Nakazawa, Atsuko</creatorcontrib><creatorcontrib>Saiki, Ryunosuke</creatorcontrib><creatorcontrib>Seki, Masafumi</creatorcontrib><creatorcontrib>Takita, Junko</creatorcontrib><creatorcontrib>Ogawa, Seishi</creatorcontrib><creatorcontrib>Manabe, Atsushi</creatorcontrib><creatorcontrib>Hasegawa, Daisuke</creatorcontrib><title>Clonal evidence for the development of neuroblastoma with extensive copy‐neutral loss of heterozygosity arising in a mature teratoma</title><title>Cancer science</title><addtitle>Cancer Sci</addtitle><description>Mature teratomas are usually benign tumors that rarely undergo malignant transformation. We report an advanced neuroblastoma arising in a mature teratoma of the ovary. Whole‐exome sequencing identified extensive copy‐neutral loss of heterozygosity (LOH) in both neuroblastoma and teratoma elements, suggesting that the neuroblastoma evolved from the teratoma. In addition, several truncating germline heterozygous variants in tumor suppressor genes, including RBL2 and FBXW12, became homozygous as a result of LOH. Collectively, we speculate that extensive LOH in teratoma cells may force heterozygous germline variants to become homozygous, which, in turn, may contribute to the development of neuroblastoma with the acquisition of additional chromosomal changes.
A model of malignant transformation from teratoma to neuroblastoma.</description><subject>Analysis</subject><subject>cancer genome/genetics</subject><subject>Case Report</subject><subject>Chemotherapy</subject><subject>copy‐neutral loss of heterozygosity</subject><subject>Genes</subject><subject>Genomes</subject><subject>genomic analysis</subject><subject>Genomics</subject><subject>Heterozygosity</subject><subject>Loss of heterozygosity</subject><subject>Lymphatic system</subject><subject>malignant transformation</subject><subject>Mutation</subject><subject>Neuroblastoma</subject><subject>Ovaries</subject><subject>Scintigraphy</subject><subject>Teratoma</subject><subject>Transplants & implants</subject><subject>Tumor suppressor genes</subject><subject>Tumors</subject><subject>Vincristine</subject><issn>1347-9032</issn><issn>1349-7006</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>BENPR</sourceid><sourceid>D8T</sourceid><recordid>eNp9ks2O0zAQxyMEYpeFAy-ALHHikK4_4_iCVFV8SStxAM6W40xaL0lc7KQlnDhx5hl5EtxNWagE2AePZn7zH814suwxwQuSzqU1cUG4YuROdk4YV7nEuLh7Y8tcYUbPsgcxXmPMCq74_eyMMcU4F_g8-7ZqfW9aBDtXQ28BNT6gYQOohh20fttBPyDfoB7G4KvWxMF3Bu3dsEHweYA-uh0g67fTj6_fEzOEpNX6GA85Gxgg-C_T2kc3TMgEF12_Rq5HBnVmGAOgBJiD4sPsXmPaCI-O70X24eWL96vX-dXbV29Wy6vcikKSXFVCcms4lqK0DasaIuuKcFESINbyopLSNsIwIhg2rJSVohjqhgKh2KpCsYssn3XjHrZjpbfBdSZM2hunj66PyQLNC8oETfzzmU-RDmqbppE6PEk7jfRuo9d-p0sqGC1ZEnh6FAj-0whx0Nd-DGniUVOhSoZLoYr_U1yKQlEmf1Nr04J2feNTSdu5aPVSEiw5IyVJ1OIvVLo1dM76HhqX_CcJz-YEG9LHBWhu2yNYH_ZLp_3SN_uV2Cd_zuOW_LVQCbicgX2qMv1bSa-W72bJn-Y33LY</recordid><startdate>202107</startdate><enddate>202107</enddate><creator>Ono, Rintaro</creator><creator>Ueno, Hiroo</creator><creator>Yoshida, Kenichi</creator><creator>Takahashi, Satoko</creator><creator>Yoshihara, Hiroki</creator><creator>Nozaki, Taiki</creator><creator>Suzuki, Koyu</creator><creator>Nakazawa, Atsuko</creator><creator>Saiki, Ryunosuke</creator><creator>Seki, Masafumi</creator><creator>Takita, Junko</creator><creator>Ogawa, Seishi</creator><creator>Manabe, Atsushi</creator><creator>Hasegawa, Daisuke</creator><general>John Wiley & Sons, Inc</general><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>5PM</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope><orcidid>https://orcid.org/0000-0001-8847-2528</orcidid></search><sort><creationdate>202107</creationdate><title>Clonal evidence for the development of neuroblastoma with extensive copy‐neutral loss of heterozygosity arising in a mature teratoma</title><author>Ono, Rintaro ; Ueno, Hiroo ; Yoshida, Kenichi ; Takahashi, Satoko ; Yoshihara, Hiroki ; Nozaki, Taiki ; Suzuki, Koyu ; Nakazawa, Atsuko ; Saiki, Ryunosuke ; Seki, Masafumi ; Takita, Junko ; Ogawa, Seishi ; Manabe, Atsushi ; Hasegawa, Daisuke</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5671-9b574ca40758cf3bf17db14581e1cc46b77cf5a31530a387b920edf2e120c9693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Analysis</topic><topic>cancer genome/genetics</topic><topic>Case Report</topic><topic>Chemotherapy</topic><topic>copy‐neutral loss of heterozygosity</topic><topic>Genes</topic><topic>Genomes</topic><topic>genomic analysis</topic><topic>Genomics</topic><topic>Heterozygosity</topic><topic>Loss of heterozygosity</topic><topic>Lymphatic system</topic><topic>malignant transformation</topic><topic>Mutation</topic><topic>Neuroblastoma</topic><topic>Ovaries</topic><topic>Scintigraphy</topic><topic>Teratoma</topic><topic>Transplants & implants</topic><topic>Tumor suppressor genes</topic><topic>Tumors</topic><topic>Vincristine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ono, Rintaro</creatorcontrib><creatorcontrib>Ueno, Hiroo</creatorcontrib><creatorcontrib>Yoshida, Kenichi</creatorcontrib><creatorcontrib>Takahashi, Satoko</creatorcontrib><creatorcontrib>Yoshihara, Hiroki</creatorcontrib><creatorcontrib>Nozaki, Taiki</creatorcontrib><creatorcontrib>Suzuki, Koyu</creatorcontrib><creatorcontrib>Nakazawa, Atsuko</creatorcontrib><creatorcontrib>Saiki, Ryunosuke</creatorcontrib><creatorcontrib>Seki, Masafumi</creatorcontrib><creatorcontrib>Takita, Junko</creatorcontrib><creatorcontrib>Ogawa, Seishi</creatorcontrib><creatorcontrib>Manabe, Atsushi</creatorcontrib><creatorcontrib>Hasegawa, Daisuke</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>PubMed Central (Full Participant titles)</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>Cancer science</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ono, Rintaro</au><au>Ueno, Hiroo</au><au>Yoshida, Kenichi</au><au>Takahashi, Satoko</au><au>Yoshihara, Hiroki</au><au>Nozaki, Taiki</au><au>Suzuki, Koyu</au><au>Nakazawa, Atsuko</au><au>Saiki, Ryunosuke</au><au>Seki, Masafumi</au><au>Takita, Junko</au><au>Ogawa, Seishi</au><au>Manabe, Atsushi</au><au>Hasegawa, Daisuke</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clonal evidence for the development of neuroblastoma with extensive copy‐neutral loss of heterozygosity arising in a mature teratoma</atitle><jtitle>Cancer science</jtitle><addtitle>Cancer Sci</addtitle><date>2021-07</date><risdate>2021</risdate><volume>112</volume><issue>7</issue><spage>2921</spage><epage>2927</epage><pages>2921-2927</pages><issn>1347-9032</issn><eissn>1349-7006</eissn><abstract>Mature teratomas are usually benign tumors that rarely undergo malignant transformation. We report an advanced neuroblastoma arising in a mature teratoma of the ovary. Whole‐exome sequencing identified extensive copy‐neutral loss of heterozygosity (LOH) in both neuroblastoma and teratoma elements, suggesting that the neuroblastoma evolved from the teratoma. In addition, several truncating germline heterozygous variants in tumor suppressor genes, including RBL2 and FBXW12, became homozygous as a result of LOH. Collectively, we speculate that extensive LOH in teratoma cells may force heterozygous germline variants to become homozygous, which, in turn, may contribute to the development of neuroblastoma with the acquisition of additional chromosomal changes.
A model of malignant transformation from teratoma to neuroblastoma.</abstract><cop>England</cop><pub>John Wiley & Sons, Inc</pub><pmid>33934450</pmid><doi>10.1111/cas.14931</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0001-8847-2528</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Analysis cancer genome/genetics Case Report Chemotherapy copy‐neutral loss of heterozygosity Genes Genomes genomic analysis Genomics Heterozygosity Loss of heterozygosity Lymphatic system malignant transformation Mutation Neuroblastoma Ovaries Scintigraphy Teratoma Transplants & implants Tumor suppressor genes Tumors Vincristine |
| title | Clonal evidence for the development of neuroblastoma with extensive copy‐neutral loss of heterozygosity arising in a mature teratoma |
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