Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Revista da Associação Médica Brasileira (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302015000300282 |
Resumo: | Summary Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.R337H, is present in 1 in 300 newborns in Southern and Southeast Brazil. In addition, a significant percentage of children with LFS/LFL spectrum tumors in the region have a family history compatible with LFS/LFL. Objective: to review clinical relevant aspects of LFS/LFL by our multidisciplinary team with focus on pediatric cancer. Methods: the NCBI (PubMed) and SciELO databases were consulted using the keywords Li-Fraumeni syndrome, Li-Fraumeni-like syndrome and pediatric cancer; and all manuscripts published between 1990 and 2014 using these keywords were retrieved and reviewed. Conclusion: although LFS/LFL is considered a rare disease, it appears to be substantially more common in certain geographic regions. Recognition of population- specific risks for the syndrome is important for adequate management of hereditary cancer patients and families. In Southern and Southeastern Brazil, LFS/ LFL should be considered in the differential diagnosis of children with cancer, especially if within the spectrum of the syndrome. Due to the complexities of these syndromes, a multidisciplinary approach should be sought for the counseling, diagnosis and management of patients and families affected by these disorders. Pediatricians and pediatric oncologists in areas with high prevalence of hereditary cancer syndromes have a central role in the recognition and proper referral of patients and families to genetic cancer risk evaluation and management programs. |
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Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatricianLi-Fraumeni syndromeneoplasmsgenesp53genetic counselingTP53Summary Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.R337H, is present in 1 in 300 newborns in Southern and Southeast Brazil. In addition, a significant percentage of children with LFS/LFL spectrum tumors in the region have a family history compatible with LFS/LFL. Objective: to review clinical relevant aspects of LFS/LFL by our multidisciplinary team with focus on pediatric cancer. Methods: the NCBI (PubMed) and SciELO databases were consulted using the keywords Li-Fraumeni syndrome, Li-Fraumeni-like syndrome and pediatric cancer; and all manuscripts published between 1990 and 2014 using these keywords were retrieved and reviewed. Conclusion: although LFS/LFL is considered a rare disease, it appears to be substantially more common in certain geographic regions. Recognition of population- specific risks for the syndrome is important for adequate management of hereditary cancer patients and families. In Southern and Southeastern Brazil, LFS/ LFL should be considered in the differential diagnosis of children with cancer, especially if within the spectrum of the syndrome. Due to the complexities of these syndromes, a multidisciplinary approach should be sought for the counseling, diagnosis and management of patients and families affected by these disorders. Pediatricians and pediatric oncologists in areas with high prevalence of hereditary cancer syndromes have a central role in the recognition and proper referral of patients and families to genetic cancer risk evaluation and management programs. Associação Médica Brasileira2015-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302015000300282Revista da Associação Médica Brasileira v.61 n.3 2015reponame:Revista da Associação Médica Brasileira (Online)instname:Associação Médica Brasileira (AMB)instacron:AMB10.1590/1806-9282.61.03.282info:eu-repo/semantics/openAccessGiacomazzi,Cristina RossiGiacomazzi,JulianaNetto,Cristina B.O.Santos-Silva,PatriciaSelistre,Simone GeigerMaia,Ana LuizaOliveira,Viviane Ziebell deCamey,Suzi AlvesGoldim,José RobertoAshton-Prolla,Patriciaeng2015-07-27T00:00:00Zoai:scielo:S0104-42302015000300282Revistahttps://ramb.amb.org.br/ultimas-edicoes/#https://old.scielo.br/oai/scielo-oai.php||ramb@amb.org.br1806-92820104-4230opendoar:2015-07-27T00:00Revista da Associação Médica Brasileira (Online) - Associação Médica Brasileira (AMB)false |
dc.title.none.fl_str_mv |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
title |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
spellingShingle |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician Giacomazzi,Cristina Rossi Li-Fraumeni syndrome neoplasms genes p53 genetic counseling TP53 |
title_short |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
title_full |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
title_fullStr |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
title_full_unstemmed |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
title_sort |
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician |
author |
Giacomazzi,Cristina Rossi |
author_facet |
Giacomazzi,Cristina Rossi Giacomazzi,Juliana Netto,Cristina B.O. Santos-Silva,Patricia Selistre,Simone Geiger Maia,Ana Luiza Oliveira,Viviane Ziebell de Camey,Suzi Alves Goldim,José Roberto Ashton-Prolla,Patricia |
author_role |
author |
author2 |
Giacomazzi,Juliana Netto,Cristina B.O. Santos-Silva,Patricia Selistre,Simone Geiger Maia,Ana Luiza Oliveira,Viviane Ziebell de Camey,Suzi Alves Goldim,José Roberto Ashton-Prolla,Patricia |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Giacomazzi,Cristina Rossi Giacomazzi,Juliana Netto,Cristina B.O. Santos-Silva,Patricia Selistre,Simone Geiger Maia,Ana Luiza Oliveira,Viviane Ziebell de Camey,Suzi Alves Goldim,José Roberto Ashton-Prolla,Patricia |
dc.subject.por.fl_str_mv |
Li-Fraumeni syndrome neoplasms genes p53 genetic counseling TP53 |
topic |
Li-Fraumeni syndrome neoplasms genes p53 genetic counseling TP53 |
description |
Summary Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.R337H, is present in 1 in 300 newborns in Southern and Southeast Brazil. In addition, a significant percentage of children with LFS/LFL spectrum tumors in the region have a family history compatible with LFS/LFL. Objective: to review clinical relevant aspects of LFS/LFL by our multidisciplinary team with focus on pediatric cancer. Methods: the NCBI (PubMed) and SciELO databases were consulted using the keywords Li-Fraumeni syndrome, Li-Fraumeni-like syndrome and pediatric cancer; and all manuscripts published between 1990 and 2014 using these keywords were retrieved and reviewed. Conclusion: although LFS/LFL is considered a rare disease, it appears to be substantially more common in certain geographic regions. Recognition of population- specific risks for the syndrome is important for adequate management of hereditary cancer patients and families. In Southern and Southeastern Brazil, LFS/ LFL should be considered in the differential diagnosis of children with cancer, especially if within the spectrum of the syndrome. Due to the complexities of these syndromes, a multidisciplinary approach should be sought for the counseling, diagnosis and management of patients and families affected by these disorders. Pediatricians and pediatric oncologists in areas with high prevalence of hereditary cancer syndromes have a central role in the recognition and proper referral of patients and families to genetic cancer risk evaluation and management programs. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302015000300282 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302015000300282 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1806-9282.61.03.282 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Médica Brasileira |
publisher.none.fl_str_mv |
Associação Médica Brasileira |
dc.source.none.fl_str_mv |
Revista da Associação Médica Brasileira v.61 n.3 2015 reponame:Revista da Associação Médica Brasileira (Online) instname:Associação Médica Brasileira (AMB) instacron:AMB |
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Associação Médica Brasileira (AMB) |
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AMB |
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AMB |
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Revista da Associação Médica Brasileira (Online) |
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Revista da Associação Médica Brasileira (Online) |
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Revista da Associação Médica Brasileira (Online) - Associação Médica Brasileira (AMB) |
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