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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.

Identifieur interne : 000B19 ( PubMed/Curation ); précédent : 000B18; suivant : 000B20

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.

Auteurs : Christian P. Kratz [Allemagne] ; Maria Isabel Achatz [États-Unis] ; Laurence Brugières [France] ; Thierry Frebourg [France] ; Judy E. Garber [États-Unis] ; Mary-Louise C. Greer [Canada] ; Jordan R. Hansford [Australie] ; Katherine A. Janeway [États-Unis] ; Wendy K. Kohlmann [États-Unis] ; Rose Mcgee [États-Unis] ; Charles G. Mullighan [États-Unis] ; Kenan Onel [États-Unis] ; Kristian W. Pajtler [Allemagne] ; Stefan M. Pfister [Allemagne] ; Sharon A. Savage [États-Unis] ; Joshua D. Schiffman [États-Unis] ; Katherine A. Schneider [États-Unis] ; Louise C. Strong [États-Unis] ; D Gareth R. Evans [Royaume-Uni] ; Jonathan D. Wasserman [Royaume-Uni] ; Anita Villani [Canada] ; David Malkin [Canada]

Source :

RBID : pubmed:28572266

Abstract

Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become evident that children and adults with LFS benefit from intensive surveillance aimed at early tumor detection. In October 2016, the American Association for Cancer Research held a meeting of international LFS experts to evaluate the current knowledge on LFS and propose consensus surveillance recommendations. Herein, we briefly summarize clinical and genetic aspects of this aggressive cancer predisposition syndrome. In addition, the expert panel concludes that there are sufficient existing data to recommend that all patients with LFS be offered cancer surveillance as soon as the clinical or molecular LFS diagnosis is established. Specifically, the panel recommends adoption of a modified version of the "Toronto protocol" that includes a combination of physical exams, blood tests, and imaging. The panel also recommends that further research be promoted to explore the feasibility and effectiveness of these risk-adapted surveillance and cancer prevention strategies while addressing the psychosocial needs of individuals and families with LFS. Clin Cancer Res; 23(11); e38-e45. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

DOI: 10.1158/1078-0432.CCR-17-0408
PubMed: 28572266

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<name sortKey="Schneider, Katherine A" sort="Schneider, Katherine A" uniqKey="Schneider K" first="Katherine A" last="Schneider">Katherine A. Schneider</name>
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<name sortKey="Strong, Louise C" sort="Strong, Louise C" uniqKey="Strong L" first="Louise C" last="Strong">Louise C. Strong</name>
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<region type="state">Texas</region>
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<name sortKey="Evans, D Gareth R" sort="Evans, D Gareth R" uniqKey="Evans D" first="D Gareth R" last="Evans">D Gareth R. Evans</name>
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<name sortKey="Kratz, Christian P" sort="Kratz, Christian P" uniqKey="Kratz C" first="Christian P" last="Kratz">Christian P. Kratz</name>
<affiliation wicri:level="1">
<nlm:affiliation>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Pediatric Hematology and Oncology, Hannover Medical School, Hannover</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Achatz, Maria Isabel" sort="Achatz, Maria Isabel" uniqKey="Achatz M" first="Maria Isabel" last="Achatz">Maria Isabel Achatz</name>
<affiliation wicri:level="2">
<nlm:affiliation>Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Clinical Genetics Branch, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
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<name sortKey="Brugieres, Laurence" sort="Brugieres, Laurence" uniqKey="Brugieres L" first="Laurence" last="Brugières">Laurence Brugières</name>
<affiliation wicri:level="1">
<nlm:affiliation>Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name>
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<nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, Rouen University Hospital, Rouen</wicri:regionArea>
</affiliation>
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<name sortKey="Garber, Judy E" sort="Garber, Judy E" uniqKey="Garber J" first="Judy E" last="Garber">Judy E. Garber</name>
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<nlm:affiliation>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts.</nlm:affiliation>
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<placeName>
<region type="state">Massachusetts</region>
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<wicri:cityArea>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston</wicri:cityArea>
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<name sortKey="Greer, Mary Louise C" sort="Greer, Mary Louise C" uniqKey="Greer M" first="Mary-Louise C" last="Greer">Mary-Louise C. Greer</name>
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<nlm:affiliation>Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, Ontario</wicri:regionArea>
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<name sortKey="Hansford, Jordan R" sort="Hansford, Jordan R" uniqKey="Hansford J" first="Jordan R" last="Hansford">Jordan R. Hansford</name>
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<nlm:affiliation>Children's Cancer Centre, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.</nlm:affiliation>
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<wicri:regionArea>Children's Cancer Centre, Royal Children's Hospital, University of Melbourne, Melbourne</wicri:regionArea>
</affiliation>
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<name sortKey="Janeway, Katherine A" sort="Janeway, Katherine A" uniqKey="Janeway K" first="Katherine A" last="Janeway">Katherine A. Janeway</name>
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<nlm:affiliation>Harvard Medical School, Pediatric Solid Tumor Center, Dana-Farber Cancer Institute, Boston Children's Hospital Cancer Center, Boston, Massachusetts.</nlm:affiliation>
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<placeName>
<region type="state">Massachusetts</region>
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<name sortKey="Kohlmann, Wendy K" sort="Kohlmann, Wendy K" uniqKey="Kohlmann W" first="Wendy K" last="Kohlmann">Wendy K. Kohlmann</name>
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<nlm:affiliation>Huntsman Cancer Institute, Salt Lake City, Utah.</nlm:affiliation>
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<region type="state">Utah</region>
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<name sortKey="Mcgee, Rose" sort="Mcgee, Rose" uniqKey="Mcgee R" first="Rose" last="Mcgee">Rose Mcgee</name>
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<nlm:affiliation>Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
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<region type="state">Tennessee</region>
</placeName>
<wicri:cityArea>Department of Oncology, St. Jude Children's Research Hospital, Memphis</wicri:cityArea>
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<name sortKey="Mullighan, Charles G" sort="Mullighan, Charles G" uniqKey="Mullighan C" first="Charles G" last="Mullighan">Charles G. Mullighan</name>
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<nlm:affiliation>Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
<wicri:cityArea>Department of Pathology, St. Jude Children's Research Hospital, Memphis</wicri:cityArea>
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<name sortKey="Onel, Kenan" sort="Onel, Kenan" uniqKey="Onel K" first="Kenan" last="Onel">Kenan Onel</name>
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<nlm:affiliation>Hofstra Northwell School of Medicine, Cohen Children's Medical Center, Northwell Health, Manhasset, New York.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Hofstra Northwell School of Medicine, Cohen Children's Medical Center, Northwell Health, Manhasset</wicri:cityArea>
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<name sortKey="Pajtler, Kristian W" sort="Pajtler, Kristian W" uniqKey="Pajtler K" first="Kristian W" last="Pajtler">Kristian W. Pajtler</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pediatric Oncology, Hematology & Immunology, Heidelberg University Hospital, Heidelberg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Oncology, Hematology & Immunology, Heidelberg University Hospital, Heidelberg</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Pfister, Stefan M" sort="Pfister, Stefan M" uniqKey="Pfister S" first="Stefan M" last="Pfister">Stefan M. Pfister</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pediatric Oncology, Hematology & Immunology, Heidelberg University Hospital, Heidelberg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Oncology, Hematology & Immunology, Heidelberg University Hospital, Heidelberg</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Savage, Sharon A" sort="Savage, Sharon A" uniqKey="Savage S" first="Sharon A" last="Savage">Sharon A. Savage</name>
<affiliation wicri:level="2">
<nlm:affiliation>Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Clinical Genetics Branch, National Cancer Institute, Bethesda</wicri:cityArea>
</affiliation>
</author>
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<name sortKey="Schiffman, Joshua D" sort="Schiffman, Joshua D" uniqKey="Schiffman J" first="Joshua D" last="Schiffman">Joshua D. Schiffman</name>
<affiliation wicri:level="2">
<nlm:affiliation>Department of Pediatrics and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Utah</region>
</placeName>
<wicri:cityArea>Department of Pediatrics and Huntsman Cancer Institute, University of Utah, Salt Lake City</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Schneider, Katherine A" sort="Schneider, Katherine A" uniqKey="Schneider K" first="Katherine A" last="Schneider">Katherine A. Schneider</name>
<affiliation wicri:level="2">
<nlm:affiliation>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston</wicri:cityArea>
</affiliation>
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<name sortKey="Strong, Louise C" sort="Strong, Louise C" uniqKey="Strong L" first="Louise C" last="Strong">Louise C. Strong</name>
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<name sortKey="Evans, D Gareth R" sort="Evans, D Gareth R" uniqKey="Evans D" first="D Gareth R" last="Evans">D Gareth R. Evans</name>
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<title level="j">Clinical cancer research : an official journal of the American Association for Cancer Research</title>
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<div type="abstract" xml:lang="en">Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become evident that children and adults with LFS benefit from intensive surveillance aimed at early tumor detection. In October 2016, the American Association for Cancer Research held a meeting of international LFS experts to evaluate the current knowledge on LFS and propose consensus surveillance recommendations. Herein, we briefly summarize clinical and genetic aspects of this aggressive cancer predisposition syndrome. In addition, the expert panel concludes that there are sufficient existing data to recommend that all patients with LFS be offered cancer surveillance as soon as the clinical or molecular LFS diagnosis is established. Specifically, the panel recommends adoption of a modified version of the "Toronto protocol" that includes a combination of physical exams, blood tests, and imaging. The panel also recommends that further research be promoted to explore the feasibility and effectiveness of these risk-adapted surveillance and cancer prevention strategies while addressing the psychosocial needs of individuals and families with LFS. Clin Cancer Res; 23(11); e38-e45. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.</div>
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<AbstractText>Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become evident that children and adults with LFS benefit from intensive surveillance aimed at early tumor detection. In October 2016, the American Association for Cancer Research held a meeting of international LFS experts to evaluate the current knowledge on LFS and propose consensus surveillance recommendations. Herein, we briefly summarize clinical and genetic aspects of this aggressive cancer predisposition syndrome. In addition, the expert panel concludes that there are sufficient existing data to recommend that all patients with LFS be offered cancer surveillance as soon as the clinical or molecular LFS diagnosis is established. Specifically, the panel recommends adoption of a modified version of the "Toronto protocol" that includes a combination of physical exams, blood tests, and imaging. The panel also recommends that further research be promoted to explore the feasibility and effectiveness of these risk-adapted surveillance and cancer prevention strategies while addressing the psychosocial needs of individuals and families with LFS. Clin Cancer Res; 23(11); e38-e45. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.</AbstractText>
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