Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
Resumo: | Abstract A 36-year-old female patient seeks her primary care physician for a 2-year history of right back pain associated with diminished strength in her left arm. The patient is referred to our hospital following the findings of a computed tomography scan which shows a nodular, oval-shaped, soft tissue density mass located in the upper third of the right thoracic wall in intimate relation with the intercostal muscles. Above it, in close proximity with the right pulmonary apex and located in the thoracic inlet, there is another mass with the same tomographic characteristics. Surgical resection is conducted and final pathology results are consistent with multicentric, low grade fusocellular neoplasia. Later genetic testing by Sanger sequencing detects the mutation S45F in the CTNNB1 gene, confirming the diagnosis of multifocal extra-abdominal desmoid fibromatosis. |
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Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare DiagnosisMultifocalExtra-abdominalDesmoidFibromatosisS45F mutationCTNNB1 gene.Abstract A 36-year-old female patient seeks her primary care physician for a 2-year history of right back pain associated with diminished strength in her left arm. The patient is referred to our hospital following the findings of a computed tomography scan which shows a nodular, oval-shaped, soft tissue density mass located in the upper third of the right thoracic wall in intimate relation with the intercostal muscles. Above it, in close proximity with the right pulmonary apex and located in the thoracic inlet, there is another mass with the same tomographic characteristics. Surgical resection is conducted and final pathology results are consistent with multicentric, low grade fusocellular neoplasia. Later genetic testing by Sanger sequencing detects the mutation S45F in the CTNNB1 gene, confirming the diagnosis of multifocal extra-abdominal desmoid fibromatosis.Sociedade Portuguesa de Radiologia e Medicina Nuclear2023-08-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033Acta Radiológica Portuguesa v.35 n.2 2023reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033Almeida,JoãoFernandes,DiogoMartins,DoraAgostinho,Pedro GilGomes,Idílioinfo:eu-repo/semantics/openAccess2024-02-06T17:29:33Zoai:scielo:S2183-13512023000200033Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:33:26.222803Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
title |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
spellingShingle |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis Almeida,João Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
title_short |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
title_full |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
title_fullStr |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
title_full_unstemmed |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
title_sort |
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
author |
Almeida,João |
author_facet |
Almeida,João Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
author_role |
author |
author2 |
Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Almeida,João Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
dc.subject.por.fl_str_mv |
Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
topic |
Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
description |
Abstract A 36-year-old female patient seeks her primary care physician for a 2-year history of right back pain associated with diminished strength in her left arm. The patient is referred to our hospital following the findings of a computed tomography scan which shows a nodular, oval-shaped, soft tissue density mass located in the upper third of the right thoracic wall in intimate relation with the intercostal muscles. Above it, in close proximity with the right pulmonary apex and located in the thoracic inlet, there is another mass with the same tomographic characteristics. Surgical resection is conducted and final pathology results are consistent with multicentric, low grade fusocellular neoplasia. Later genetic testing by Sanger sequencing detects the mutation S45F in the CTNNB1 gene, confirming the diagnosis of multifocal extra-abdominal desmoid fibromatosis. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-08-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
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 Portuguesa de Radiologia e Medicina Nuclear |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Radiologia e Medicina Nuclear |
dc.source.none.fl_str_mv |
Acta Radiológica Portuguesa v.35 n.2 2023 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799137393466408960 |