Publicação
Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis
| 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. |
|---|---|
| Autores principais: | Almeida,João |
| Outros Autores: | Fernandes,Diogo; Martins,Dora; Agostinho,Pedro Gil; Gomes,Idílio |
| Assunto: | Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| Ano: | 2023 |
| País: | Portugal |
| Tipo de documento: | relatório |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Fundação para a Ciência e Tecnologia |
| Idioma: | inglês |
| Origem: | SciELO Portugal |
| _version_ | 1868441944628133888 |
|---|---|
| author | Almeida,João |
| author2 | Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
| author2_role | author author author author |
| author_facet | Almeida,João Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
| author_role | author |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Almeida,João\"},{\"Person.name\":\"Fernandes,Diogo\"},{\"Person.name\":\"Martins,Dora\"},{\"Person.name\":\"Agostinho,Pedro Gil\"},{\"Person.name\":\"Gomes,Idílio\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Almeida,João Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| datacite.titles.title.fl_str_mv | Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
| dc.creator.none.fl_str_mv | Almeida,João Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Sociedade Portuguesa de Radiologia e Medicina Nuclear |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Acta Radiológica Portuguesa v.35 n.2 2023 |
| dc.subject.none.fl_str_mv | Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| dc.title.fl_str_mv | Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_93fc |
| 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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | report |
| id | scielopt_70764c1903c3ff19f5f03d17a8c86c5f |
| identifier.url.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
| instacron_str | SciELO |
| institution | Fundação para a Ciência e Tecnologia |
| instname_str | Fundação para a Ciência e Tecnologia |
| language | eng |
| network_acronym_str | scielopt |
| network_name_str | SciELO Portugal |
| oai_identifier_str | oai:scielo:S2183-13512023000200033 |
| organization_str_mv | urn:organizationAcronym:scielo |
| person_str_mv | Almeida,João Fernandes,Diogo Martins,Dora Agostinho,Pedro Gil Gomes,Idílio |
| publishDate | 2023 |
| publisher.none.fl_str_mv | Sociedade Portuguesa de Radiologia e Medicina Nuclear |
| reponame_str | SciELO Portugal |
| repository_id_str | urn:repositoryAcronym:scielopt |
| service_str_mv | urn:repositoryAcronym:scielopt |
| spelling | Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare DiagnosisAlmeida,JoãoFernandes,DiogoMartins,DoraAgostinho,Pedro GilGomes,IdílioMultifocalExtra-abdominalDesmoidFibromatosisS45F mutationCTNNB1 gene.open accesshttp://purl.org/coar/access_right/c_abf2http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033URLhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033URLHasVersion2023-08-01Abstract 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 NuclearActa Radiológica Portuguesa v.35 n.2 2023text/htmlengreporthttp://purl.org/coar/resource_type/c_93fcother research product |
| spellingShingle | Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis Almeida,João Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| status | SINGLETON |
| subject.fl_str_mv | Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| title | 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_short | Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
| title_sort | Multifocal Extra-Abdominal Desmoid Fibromatosis: A Rare Diagnosis |
| topic | Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| topic_facet | Multifocal Extra-abdominal Desmoid Fibromatosis S45F mutation CTNNB1 gene. |
| url | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512023000200033 |
| visible | 1 |