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Gestational choriocarcinoma associated with a germline TP53 mutation
Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms leading to this transformation remain to be characterized. We report here the first case of a female germline TP53 mutation carrier who develop...
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| Published in: | Familial cancer 2018, Vol.17 (1), p.113-117 |
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| creator | Brehin, Anne-Claire Patrier-Sallebert, Sophie Bougeard, Gaëlle Side-Pfennig, Gwendoline Llamas Gutierrez, Francisco Lamy, Aude Colasse, Elodie Kandel-Aznar, Christine Delnatte, Capucine Vuillemin, Eric Sadot-Lebouvier, Sophie Odent, Sylvie Sabourin, Jean-Christophe Golfier, François Frebourg, Thierry |
| description | Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms leading to this transformation remain to be characterized. We report here the first case of a female germline
TP53
mutation carrier who developed, as a first tumour, a lung choriocarcinoma, 6 months after a normal delivery. Molecular analyses established the gestational origin of the choriocarcinoma and showed, within the tumour, the presence of the germline mutant
TP53
allele and loss of the wild-type allele. Resistance to methotrexate chemotherapy led to perform a surgical resection of the tumour. In agreement with the permissive role of
TP53
mutations to oncogenic events, this report strongly suggests that
TP53
mutations may promote malignant transformation of proliferating trophoblastic cells. Therefore, female
TP53
mutation carriers may have an increased risk of developing gestational choriocarcinoma and might benefit from β-hCG level monitoring after pregnancy. |
| doi_str_mv | 10.1007/s10689-017-9996-7 |
| format | article |
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TP53
mutation carrier who developed, as a first tumour, a lung choriocarcinoma, 6 months after a normal delivery. Molecular analyses established the gestational origin of the choriocarcinoma and showed, within the tumour, the presence of the germline mutant
TP53
allele and loss of the wild-type allele. Resistance to methotrexate chemotherapy led to perform a surgical resection of the tumour. In agreement with the permissive role of
TP53
mutations to oncogenic events, this report strongly suggests that
TP53
mutations may promote malignant transformation of proliferating trophoblastic cells. Therefore, female
TP53
mutation carriers may have an increased risk of developing gestational choriocarcinoma and might benefit from β-hCG level monitoring after pregnancy.</description><identifier>ISSN: 1389-9600</identifier><identifier>EISSN: 1573-7292</identifier><identifier>DOI: 10.1007/s10689-017-9996-7</identifier><identifier>PMID: 28477316</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Alleles ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Chemotherapy ; Choriocarcinoma ; Choriocarcinoma - diagnosis ; Choriocarcinoma - genetics ; Choriocarcinoma - pathology ; Choriocarcinoma - surgery ; Chorionic Gonadotropin, beta Subunit, Human - blood ; Chorionic Gonadotropin, beta Subunit, Human - metabolism ; Epidemiology ; Female ; Genetic transformation ; Genetics ; Germ-Line Mutation ; Human Genetics ; Humans ; Life Sciences ; Lung - pathology ; Lung - surgery ; Lung Neoplasms - diagnosis ; Lung Neoplasms - genetics ; Lung Neoplasms - pathology ; Lung Neoplasms - surgery ; Male ; Methotrexate ; Molecular modelling ; Mutation ; p53 Protein ; Pneumonectomy - methods ; Pregnancy ; Short Communication ; Tumor Suppressor Protein p53 - genetics ; Tumors</subject><ispartof>Familial cancer, 2018, Vol.17 (1), p.113-117</ispartof><rights>Springer Science+Business Media Dordrecht 2017</rights><rights>Familial Cancer is a copyright of Springer, (2017). All Rights Reserved.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c406t-6bb0bb18fcc9719b432a00885cda4cbbeec970da7ad8ac3922c238a5c7fd63463</citedby><cites>FETCH-LOGICAL-c406t-6bb0bb18fcc9719b432a00885cda4cbbeec970da7ad8ac3922c238a5c7fd63463</cites><orcidid>0000-0002-1475-0254 ; 0000-0003-0399-4007</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28477316$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-02356003$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Brehin, Anne-Claire</creatorcontrib><creatorcontrib>Patrier-Sallebert, Sophie</creatorcontrib><creatorcontrib>Bougeard, Gaëlle</creatorcontrib><creatorcontrib>Side-Pfennig, Gwendoline</creatorcontrib><creatorcontrib>Llamas Gutierrez, Francisco</creatorcontrib><creatorcontrib>Lamy, Aude</creatorcontrib><creatorcontrib>Colasse, Elodie</creatorcontrib><creatorcontrib>Kandel-Aznar, Christine</creatorcontrib><creatorcontrib>Delnatte, Capucine</creatorcontrib><creatorcontrib>Vuillemin, Eric</creatorcontrib><creatorcontrib>Sadot-Lebouvier, Sophie</creatorcontrib><creatorcontrib>Odent, Sylvie</creatorcontrib><creatorcontrib>Sabourin, Jean-Christophe</creatorcontrib><creatorcontrib>Golfier, François</creatorcontrib><creatorcontrib>Frebourg, Thierry</creatorcontrib><title>Gestational choriocarcinoma associated with a germline TP53 mutation</title><title>Familial cancer</title><addtitle>Familial Cancer</addtitle><addtitle>Fam Cancer</addtitle><description>Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms leading to this transformation remain to be characterized. We report here the first case of a female germline
TP53
mutation carrier who developed, as a first tumour, a lung choriocarcinoma, 6 months after a normal delivery. Molecular analyses established the gestational origin of the choriocarcinoma and showed, within the tumour, the presence of the germline mutant
TP53
allele and loss of the wild-type allele. Resistance to methotrexate chemotherapy led to perform a surgical resection of the tumour. In agreement with the permissive role of
TP53
mutations to oncogenic events, this report strongly suggests that
TP53
mutations may promote malignant transformation of proliferating trophoblastic cells. Therefore, female
TP53
mutation carriers may have an increased risk of developing gestational choriocarcinoma and might benefit from β-hCG level monitoring after pregnancy.</description><subject>Adult</subject><subject>Alleles</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Chemotherapy</subject><subject>Choriocarcinoma</subject><subject>Choriocarcinoma - diagnosis</subject><subject>Choriocarcinoma - genetics</subject><subject>Choriocarcinoma - pathology</subject><subject>Choriocarcinoma - surgery</subject><subject>Chorionic Gonadotropin, beta Subunit, Human - blood</subject><subject>Chorionic Gonadotropin, beta Subunit, Human - metabolism</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Genetic transformation</subject><subject>Genetics</subject><subject>Germ-Line Mutation</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Lung - pathology</subject><subject>Lung - surgery</subject><subject>Lung Neoplasms - diagnosis</subject><subject>Lung Neoplasms - genetics</subject><subject>Lung Neoplasms - pathology</subject><subject>Lung Neoplasms - surgery</subject><subject>Male</subject><subject>Methotrexate</subject><subject>Molecular modelling</subject><subject>Mutation</subject><subject>p53 Protein</subject><subject>Pneumonectomy - methods</subject><subject>Pregnancy</subject><subject>Short Communication</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><subject>Tumors</subject><issn>1389-9600</issn><issn>1573-7292</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNp1kUtLxDAUhYMoOj5-gBspuNFFNY82j-UwPmFAF7oOt2nGydA2mrSK_94M1UEEVwn3fvck9xyEjgm-IBiLy0gwlyrHRORKKZ6LLTQhpWC5oIpupztLXcUx3kP7Ma4wppgysYv2qCyEYIRP0NWtjT30znfQZGbpg_MGgnGdbyGDGL1x0Ns6-3D9MoPsxYa2cZ3Nnh5LlrXDOHqIdhbQRHv0fR6g55vrp9ldPn-4vZ9N57kpMO9zXlW4qohcGKMEUVXBKGAsZWlqKExVWZvquAYBtQTDFKWGMgmlEYuas4KzA3Q-6i6h0a_BtRA-tQen76Zzva6l9cq0LnsniT0b2dfg34a0pG5dNLZpoLN-iJrIZAzjnJYJPf2DrvwQkiGJUopKLgu-FiQjZYKPMdjF5gcE63UceoxDpzj0Og4t0szJt_JQtbbeTPz4nwA6AjG1uuTur6f_Vf0C2B2UBg</recordid><startdate>2018</startdate><enddate>2018</enddate><creator>Brehin, Anne-Claire</creator><creator>Patrier-Sallebert, Sophie</creator><creator>Bougeard, Gaëlle</creator><creator>Side-Pfennig, Gwendoline</creator><creator>Llamas Gutierrez, Francisco</creator><creator>Lamy, Aude</creator><creator>Colasse, Elodie</creator><creator>Kandel-Aznar, Christine</creator><creator>Delnatte, Capucine</creator><creator>Vuillemin, Eric</creator><creator>Sadot-Lebouvier, Sophie</creator><creator>Odent, Sylvie</creator><creator>Sabourin, Jean-Christophe</creator><creator>Golfier, François</creator><creator>Frebourg, Thierry</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><general>Springer Verlag (Germany)</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0002-1475-0254</orcidid><orcidid>https://orcid.org/0000-0003-0399-4007</orcidid></search><sort><creationdate>2018</creationdate><title>Gestational choriocarcinoma associated with a germline TP53 mutation</title><author>Brehin, Anne-Claire ; Patrier-Sallebert, Sophie ; Bougeard, Gaëlle ; Side-Pfennig, Gwendoline ; Llamas Gutierrez, Francisco ; Lamy, Aude ; Colasse, Elodie ; Kandel-Aznar, Christine ; Delnatte, Capucine ; Vuillemin, Eric ; Sadot-Lebouvier, Sophie ; Odent, Sylvie ; Sabourin, Jean-Christophe ; Golfier, François ; Frebourg, Thierry</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c406t-6bb0bb18fcc9719b432a00885cda4cbbeec970da7ad8ac3922c238a5c7fd63463</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Chemotherapy</topic><topic>Choriocarcinoma</topic><topic>Choriocarcinoma - diagnosis</topic><topic>Choriocarcinoma - genetics</topic><topic>Choriocarcinoma - pathology</topic><topic>Choriocarcinoma - surgery</topic><topic>Chorionic Gonadotropin, beta Subunit, Human - blood</topic><topic>Chorionic Gonadotropin, beta Subunit, Human - metabolism</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Genetic transformation</topic><topic>Genetics</topic><topic>Germ-Line Mutation</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Lung - pathology</topic><topic>Lung - surgery</topic><topic>Lung Neoplasms - diagnosis</topic><topic>Lung Neoplasms - genetics</topic><topic>Lung Neoplasms - pathology</topic><topic>Lung Neoplasms - surgery</topic><topic>Male</topic><topic>Methotrexate</topic><topic>Molecular modelling</topic><topic>Mutation</topic><topic>p53 Protein</topic><topic>Pneumonectomy - methods</topic><topic>Pregnancy</topic><topic>Short Communication</topic><topic>Tumor Suppressor Protein p53 - genetics</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brehin, Anne-Claire</creatorcontrib><creatorcontrib>Patrier-Sallebert, Sophie</creatorcontrib><creatorcontrib>Bougeard, Gaëlle</creatorcontrib><creatorcontrib>Side-Pfennig, Gwendoline</creatorcontrib><creatorcontrib>Llamas Gutierrez, Francisco</creatorcontrib><creatorcontrib>Lamy, Aude</creatorcontrib><creatorcontrib>Colasse, Elodie</creatorcontrib><creatorcontrib>Kandel-Aznar, Christine</creatorcontrib><creatorcontrib>Delnatte, Capucine</creatorcontrib><creatorcontrib>Vuillemin, Eric</creatorcontrib><creatorcontrib>Sadot-Lebouvier, Sophie</creatorcontrib><creatorcontrib>Odent, Sylvie</creatorcontrib><creatorcontrib>Sabourin, Jean-Christophe</creatorcontrib><creatorcontrib>Golfier, François</creatorcontrib><creatorcontrib>Frebourg, Thierry</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 Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</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>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Familial cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brehin, Anne-Claire</au><au>Patrier-Sallebert, Sophie</au><au>Bougeard, Gaëlle</au><au>Side-Pfennig, Gwendoline</au><au>Llamas Gutierrez, Francisco</au><au>Lamy, Aude</au><au>Colasse, Elodie</au><au>Kandel-Aznar, Christine</au><au>Delnatte, Capucine</au><au>Vuillemin, Eric</au><au>Sadot-Lebouvier, Sophie</au><au>Odent, Sylvie</au><au>Sabourin, Jean-Christophe</au><au>Golfier, François</au><au>Frebourg, Thierry</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gestational choriocarcinoma associated with a germline TP53 mutation</atitle><jtitle>Familial cancer</jtitle><stitle>Familial Cancer</stitle><addtitle>Fam Cancer</addtitle><date>2018</date><risdate>2018</risdate><volume>17</volume><issue>1</issue><spage>113</spage><epage>117</epage><pages>113-117</pages><issn>1389-9600</issn><eissn>1573-7292</eissn><abstract>Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms leading to this transformation remain to be characterized. We report here the first case of a female germline
TP53
mutation carrier who developed, as a first tumour, a lung choriocarcinoma, 6 months after a normal delivery. Molecular analyses established the gestational origin of the choriocarcinoma and showed, within the tumour, the presence of the germline mutant
TP53
allele and loss of the wild-type allele. Resistance to methotrexate chemotherapy led to perform a surgical resection of the tumour. In agreement with the permissive role of
TP53
mutations to oncogenic events, this report strongly suggests that
TP53
mutations may promote malignant transformation of proliferating trophoblastic cells. Therefore, female
TP53
mutation carriers may have an increased risk of developing gestational choriocarcinoma and might benefit from β-hCG level monitoring after pregnancy.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>28477316</pmid><doi>10.1007/s10689-017-9996-7</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-1475-0254</orcidid><orcidid>https://orcid.org/0000-0003-0399-4007</orcidid></addata></record> |
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| subjects | Adult Alleles Biomedical and Life Sciences Biomedicine Cancer Research Chemotherapy Choriocarcinoma Choriocarcinoma - diagnosis Choriocarcinoma - genetics Choriocarcinoma - pathology Choriocarcinoma - surgery Chorionic Gonadotropin, beta Subunit, Human - blood Chorionic Gonadotropin, beta Subunit, Human - metabolism Epidemiology Female Genetic transformation Genetics Germ-Line Mutation Human Genetics Humans Life Sciences Lung - pathology Lung - surgery Lung Neoplasms - diagnosis Lung Neoplasms - genetics Lung Neoplasms - pathology Lung Neoplasms - surgery Male Methotrexate Molecular modelling Mutation p53 Protein Pneumonectomy - methods Pregnancy Short Communication Tumor Suppressor Protein p53 - genetics Tumors |
| title | Gestational choriocarcinoma associated with a germline TP53 mutation |
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