Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800007 |
Resumo: | We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1. |
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Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1.Sociedade Brasileira de Endocrinologia e Metabologia2010-11-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800007Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.8 2010reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302010000800007info:eu-repo/semantics/openAccessBoguszewski,Cesar LuizBianchet,Leila CarolineRaskin,SalmoNomura,Luiz M.Borba,Luis AlencarCavalcanti,Teresa Cristina Santoseng2011-02-02T00:00:00Zoai:scielo:S0004-27302010000800007Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2011-02-02T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
title |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
spellingShingle |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 Boguszewski,Cesar Luiz |
title_short |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
title_full |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
title_fullStr |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
title_full_unstemmed |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
title_sort |
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1 |
author |
Boguszewski,Cesar Luiz |
author_facet |
Boguszewski,Cesar Luiz Bianchet,Leila Caroline Raskin,Salmo Nomura,Luiz M. Borba,Luis Alencar Cavalcanti,Teresa Cristina Santos |
author_role |
author |
author2 |
Bianchet,Leila Caroline Raskin,Salmo Nomura,Luiz M. Borba,Luis Alencar Cavalcanti,Teresa Cristina Santos |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Boguszewski,Cesar Luiz Bianchet,Leila Caroline Raskin,Salmo Nomura,Luiz M. Borba,Luis Alencar Cavalcanti,Teresa Cristina Santos |
description |
We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip. Parathyroid scintigraphy showed tracer uptake in the inferior region of the left thyroid lobe, and cervical ultrasound showed a heterogeneous nodule in the same area, suggestive of a parathyroid adenoma (PA). Genetic testing detected mutation in the MEN 1 gene and total parathyroidectomy with the implantation of a fragment of one gland in the forearm was performed. Pathology showed a PA and 3 normal parathyroid glands, without hyperplasia, despite the diagnosis of MEN 1. This case illustrates the role of genetic testing in defining the therapeutic approach for sporadic MEN 1. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-11-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800007 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800007 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-27302010000800007 |
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.54 n.8 2010 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_ |
1754734811289747456 |