HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800003 |
Resumo: | It is still debatable which is the best management to familial forms of hyperparathyroidism. Conservative, minimally invasive or aggressive surgical approaches have been proposed from different groups around the world. Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP). Clinical and biochemical data, direct sequencing of the HRPT2 gene, analysis of parafibromin expression using RT-PCR, and immunohistochemistry were done. A nonsense mutation was found in exon 1 (c.96G>A)(p.Trp32X) in all affected members studied. Using RT-PCR, mRNA transcription was altered with complete absence of both transcripts in tumor tissue. Immunohistochemical analysis of tumors showed loss of parafibromin immunoreactivity. In this kindred there was a high prevalence of recurrence (75%), or persistence after less than subtotal parathyroidectomy that led us to consider a more aggressive surgical approach should be discussed among the affected family members, once surgical criteria was met. We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment. |
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HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?HRPT2ParafibrominParathyroidJaw tumorFIHPSurgeryIt is still debatable which is the best management to familial forms of hyperparathyroidism. Conservative, minimally invasive or aggressive surgical approaches have been proposed from different groups around the world. Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP). Clinical and biochemical data, direct sequencing of the HRPT2 gene, analysis of parafibromin expression using RT-PCR, and immunohistochemistry were done. A nonsense mutation was found in exon 1 (c.96G>A)(p.Trp32X) in all affected members studied. Using RT-PCR, mRNA transcription was altered with complete absence of both transcripts in tumor tissue. Immunohistochemical analysis of tumors showed loss of parafibromin immunoreactivity. In this kindred there was a high prevalence of recurrence (75%), or persistence after less than subtotal parathyroidectomy that led us to consider a more aggressive surgical approach should be discussed among the affected family members, once surgical criteria was met. We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment.Sociedade Brasileira de Endocrinologia e Metabologia2008-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800003Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302008000800003info:eu-repo/semantics/openAccessSilveira,Leticia G.Dias,Eduardo P.Marinho,Bruna C. G.Gomez,Ricardo S.De Marco,LuizSarquis,Marta S.eng2009-01-16T00:00:00Zoai:scielo:S0004-27302008000800003Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2009-01-16T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
title |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
spellingShingle |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? Silveira,Leticia G. HRPT2 Parafibromin Parathyroid Jaw tumor FIHP Surgery |
title_short |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
title_full |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
title_fullStr |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
title_full_unstemmed |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
title_sort |
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? |
author |
Silveira,Leticia G. |
author_facet |
Silveira,Leticia G. Dias,Eduardo P. Marinho,Bruna C. G. Gomez,Ricardo S. De Marco,Luiz Sarquis,Marta S. |
author_role |
author |
author2 |
Dias,Eduardo P. Marinho,Bruna C. G. Gomez,Ricardo S. De Marco,Luiz Sarquis,Marta S. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Silveira,Leticia G. Dias,Eduardo P. Marinho,Bruna C. G. Gomez,Ricardo S. De Marco,Luiz Sarquis,Marta S. |
dc.subject.por.fl_str_mv |
HRPT2 Parafibromin Parathyroid Jaw tumor FIHP Surgery |
topic |
HRPT2 Parafibromin Parathyroid Jaw tumor FIHP Surgery |
description |
It is still debatable which is the best management to familial forms of hyperparathyroidism. Conservative, minimally invasive or aggressive surgical approaches have been proposed from different groups around the world. Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP). Clinical and biochemical data, direct sequencing of the HRPT2 gene, analysis of parafibromin expression using RT-PCR, and immunohistochemistry were done. A nonsense mutation was found in exon 1 (c.96G>A)(p.Trp32X) in all affected members studied. Using RT-PCR, mRNA transcription was altered with complete absence of both transcripts in tumor tissue. Immunohistochemical analysis of tumors showed loss of parafibromin immunoreactivity. In this kindred there was a high prevalence of recurrence (75%), or persistence after less than subtotal parathyroidectomy that led us to consider a more aggressive surgical approach should be discussed among the affected family members, once surgical criteria was met. We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-11-01 |
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=S0004-27302008000800003 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800003 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-27302008000800003 |
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 |
Sociedade Brasileira de Endocrinologia e Metabologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
dc.source.none.fl_str_mv |
Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008 reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
collection |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
repository.name.fl_str_mv |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||abem-editoria@endocrino.org.br |
_version_ |
1754734810106953728 |