Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor
We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemot...
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| Veröffentlicht in: | Pathology international 2021-02, Vol.71 (2), p.155-160 |
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| creator | Fukushima, Hiroko Yamasaki, Kai Sakaida, Miho Tsujio, Nozomi Okuno, Takahiro Ishii, Naomi Okada, Keiko Fujisaki, Hiroyuki Matsusaka, Yasuhiro Sakamoto, Hiroaki Yoneda, Akihiro Hara, Junichi Inoue, Takeshi |
| description | We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney. |
| doi_str_mv | 10.1111/pin.13056 |
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A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney.</description><identifier>ISSN: 1320-5463</identifier><identifier>EISSN: 1440-1827</identifier><identifier>DOI: 10.1111/pin.13056</identifier><identifier>PMID: 33378586</identifier><language>eng</language><publisher>Australia: Wiley Subscription Services, Inc</publisher><subject>atypical teratoid/rhabdoid tumor (AT/RT) ; Brain ; Brain cancer ; Brain tumors ; Case reports ; Chemotherapy ; favorable outcome ; Gene deletion ; Genetic screening ; Kidneys ; late onset ; Nephrectomy ; Peripheral blood ; Radiation therapy ; rhabdoid tumor of the kidney (RTK) ; rhabdoid tumor predisposition syndrome (RTPS) ; SMARCB1 ; Tumor cells ; Tumors ; Ventricle ; Ventricles (cerebral)</subject><ispartof>Pathology international, 2021-02, Vol.71 (2), p.155-160</ispartof><rights>2020 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd</rights><rights>2020 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.</rights><rights>2021 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3446-38b3347332cf43bef2b7cb208b3f78d0b274c3a3ec048fc63ce75447dd5d092b3</citedby><cites>FETCH-LOGICAL-c3446-38b3347332cf43bef2b7cb208b3f78d0b274c3a3ec048fc63ce75447dd5d092b3</cites><orcidid>0000-0001-9206-6696 ; 0000-0002-0985-1501 ; 0000-0002-5701-8813</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpin.13056$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpin.13056$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33378586$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fukushima, Hiroko</creatorcontrib><creatorcontrib>Yamasaki, Kai</creatorcontrib><creatorcontrib>Sakaida, Miho</creatorcontrib><creatorcontrib>Tsujio, Nozomi</creatorcontrib><creatorcontrib>Okuno, Takahiro</creatorcontrib><creatorcontrib>Ishii, Naomi</creatorcontrib><creatorcontrib>Okada, Keiko</creatorcontrib><creatorcontrib>Fujisaki, Hiroyuki</creatorcontrib><creatorcontrib>Matsusaka, Yasuhiro</creatorcontrib><creatorcontrib>Sakamoto, Hiroaki</creatorcontrib><creatorcontrib>Yoneda, Akihiro</creatorcontrib><creatorcontrib>Hara, Junichi</creatorcontrib><creatorcontrib>Inoue, Takeshi</creatorcontrib><title>Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor</title><title>Pathology international</title><addtitle>Pathol Int</addtitle><description>We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney.</description><subject>atypical teratoid/rhabdoid tumor (AT/RT)</subject><subject>Brain</subject><subject>Brain cancer</subject><subject>Brain tumors</subject><subject>Case reports</subject><subject>Chemotherapy</subject><subject>favorable outcome</subject><subject>Gene deletion</subject><subject>Genetic screening</subject><subject>Kidneys</subject><subject>late onset</subject><subject>Nephrectomy</subject><subject>Peripheral blood</subject><subject>Radiation therapy</subject><subject>rhabdoid tumor of the kidney (RTK)</subject><subject>rhabdoid tumor predisposition syndrome (RTPS)</subject><subject>SMARCB1</subject><subject>Tumor cells</subject><subject>Tumors</subject><subject>Ventricle</subject><subject>Ventricles (cerebral)</subject><issn>1320-5463</issn><issn>1440-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp1kE1Lw0AQhhdRbK0e_AOy4MlD2s3OJrs9SvGjUFSKnsN-hW5psnE3peTfG0315lxmmHl4GF6ErlMyTfuaNa6epkCy_ASNU8ZIkgrKT_sZKEkylsMIXcS4JSTlkJNzNAIALjKRj9F6vZHKeGdwu698wE2wxsXGR9c6X-PY1Sb4yuKDazc42FrujmBKcGdliFiWrQ1YBenq4XSJzkq5i_bq2Cfo4_HhffGcrF6flov7VaKBsTwBoQAYB6C6ZKBsSRXXipJ-XXJhiKKcaZBgNWGi1DloyzPGuDGZIXOqYIJuB28T_OfexrbY-n3oP4wFZUIQkud83lN3A6WDjzHYsmiCq2ToipQU3-kVfXrFT3o9e3M07lVlzR_5G1cPzAbg4Ha2-99UvC1fBuUXV4t5Hg</recordid><startdate>202102</startdate><enddate>202102</enddate><creator>Fukushima, Hiroko</creator><creator>Yamasaki, Kai</creator><creator>Sakaida, Miho</creator><creator>Tsujio, Nozomi</creator><creator>Okuno, Takahiro</creator><creator>Ishii, Naomi</creator><creator>Okada, Keiko</creator><creator>Fujisaki, Hiroyuki</creator><creator>Matsusaka, Yasuhiro</creator><creator>Sakamoto, Hiroaki</creator><creator>Yoneda, Akihiro</creator><creator>Hara, Junichi</creator><creator>Inoue, Takeshi</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>7T5</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><orcidid>https://orcid.org/0000-0001-9206-6696</orcidid><orcidid>https://orcid.org/0000-0002-0985-1501</orcidid><orcidid>https://orcid.org/0000-0002-5701-8813</orcidid></search><sort><creationdate>202102</creationdate><title>Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor</title><author>Fukushima, Hiroko ; Yamasaki, Kai ; Sakaida, Miho ; Tsujio, Nozomi ; Okuno, Takahiro ; Ishii, Naomi ; Okada, Keiko ; Fujisaki, Hiroyuki ; Matsusaka, Yasuhiro ; Sakamoto, Hiroaki ; Yoneda, Akihiro ; Hara, Junichi ; Inoue, Takeshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3446-38b3347332cf43bef2b7cb208b3f78d0b274c3a3ec048fc63ce75447dd5d092b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>atypical teratoid/rhabdoid tumor (AT/RT)</topic><topic>Brain</topic><topic>Brain cancer</topic><topic>Brain tumors</topic><topic>Case reports</topic><topic>Chemotherapy</topic><topic>favorable outcome</topic><topic>Gene deletion</topic><topic>Genetic screening</topic><topic>Kidneys</topic><topic>late onset</topic><topic>Nephrectomy</topic><topic>Peripheral blood</topic><topic>Radiation therapy</topic><topic>rhabdoid tumor of the kidney (RTK)</topic><topic>rhabdoid tumor predisposition syndrome (RTPS)</topic><topic>SMARCB1</topic><topic>Tumor cells</topic><topic>Tumors</topic><topic>Ventricle</topic><topic>Ventricles (cerebral)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fukushima, Hiroko</creatorcontrib><creatorcontrib>Yamasaki, Kai</creatorcontrib><creatorcontrib>Sakaida, Miho</creatorcontrib><creatorcontrib>Tsujio, Nozomi</creatorcontrib><creatorcontrib>Okuno, Takahiro</creatorcontrib><creatorcontrib>Ishii, Naomi</creatorcontrib><creatorcontrib>Okada, Keiko</creatorcontrib><creatorcontrib>Fujisaki, Hiroyuki</creatorcontrib><creatorcontrib>Matsusaka, Yasuhiro</creatorcontrib><creatorcontrib>Sakamoto, Hiroaki</creatorcontrib><creatorcontrib>Yoneda, Akihiro</creatorcontrib><creatorcontrib>Hara, Junichi</creatorcontrib><creatorcontrib>Inoue, Takeshi</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Immunology Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS 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><jtitle>Pathology international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fukushima, Hiroko</au><au>Yamasaki, Kai</au><au>Sakaida, Miho</au><au>Tsujio, Nozomi</au><au>Okuno, Takahiro</au><au>Ishii, Naomi</au><au>Okada, Keiko</au><au>Fujisaki, Hiroyuki</au><au>Matsusaka, Yasuhiro</au><au>Sakamoto, Hiroaki</au><au>Yoneda, Akihiro</au><au>Hara, Junichi</au><au>Inoue, Takeshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor</atitle><jtitle>Pathology international</jtitle><addtitle>Pathol Int</addtitle><date>2021-02</date><risdate>2021</risdate><volume>71</volume><issue>2</issue><spage>155</spage><epage>160</epage><pages>155-160</pages><issn>1320-5463</issn><eissn>1440-1827</eissn><abstract>We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney.</abstract><cop>Australia</cop><pub>Wiley Subscription Services, Inc</pub><pmid>33378586</pmid><doi>10.1111/pin.13056</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0001-9206-6696</orcidid><orcidid>https://orcid.org/0000-0002-0985-1501</orcidid><orcidid>https://orcid.org/0000-0002-5701-8813</orcidid></addata></record> |
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| subjects | atypical teratoid/rhabdoid tumor (AT/RT) Brain Brain cancer Brain tumors Case reports Chemotherapy favorable outcome Gene deletion Genetic screening Kidneys late onset Nephrectomy Peripheral blood Radiation therapy rhabdoid tumor of the kidney (RTK) rhabdoid tumor predisposition syndrome (RTPS) SMARCB1 Tumor cells Tumors Ventricle Ventricles (cerebral) |
| title | Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor |
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