Publicação
Tumoral predisposition in type 1 neurofibromatosis : a case report
| datacite.subject.fos | Ciências Médicas | |
| datacite.subject.sdg | 03:Saúde de Qualidade | |
| dc.contributor.author | Sequeira, Maria Luísa | |
| dc.contributor.author | Salgado, Inês | |
| dc.contributor.author | Rosa, Claúdia Pereira | |
| dc.contributor.author | Gomes, Pedro | |
| dc.contributor.author | Zagalo, Carlos | |
| dc.date.accessioned | 2025-10-16T11:39:19Z | |
| dc.date.available | 2025-10-16T11:39:19Z | |
| dc.date.issued | 2021-12 | |
| dc.description.abstract | Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that predisposes to a variety of primary neoplasias, having a wide presentation spectrum. Studies have suggested that the risk of developing benign and malignant tumors in NF1 patients could be approximately 2 to 5-fold higher than what is expected in the general population. We present the case of a 52-year-old caucasian man with NF1, recently diagnosed with a retroperitoneal Gastrointestinal Stromal Tumor (GIST). The patient had already been diagnosed with a Pheochromocytoma (PHEO) and a Papillary Thyroid Carcinoma (PTC) in the past. Here we discuss the rare concomitance of these three neoplasms in a NF1 patient, as well as the clinical presentation and proposed oncological pathways linking NF1 to each of the neoplasms presented by the patient. To the best of our knowledge a similar set of tumors in a NF1 patient has never been described in literature. | eng |
| dc.identifier.citation | Maria Luísa Sequeir, Inês Salgado, Cláudia Pereira Rosa, Pedro Gomes, Carlos Zagalo. Tumoral Predisposition in type 1 Neurofibromatosis: A Case Report. Journal of Surgery and Research 4 (2021): 694-701. | |
| dc.identifier.doi | 10.26502/jsr.10020183 | |
| dc.identifier.issn | 2640-1002 | |
| dc.identifier.uri | http://hdl.handle.net/10400.26/59229 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.publisher | Fortune Journals | |
| dc.relation.hasversion | https://www.doi.org/10.26502/jsr.10020183 | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Neurofibromatosis type 1 | |
| dc.subject | Pheochromocytoma | |
| dc.subject | Gastrointestinal stromal tumor | |
| dc.subject | Papillary thyroid carcinoma | |
| dc.subject | Case report | |
| dc.title | Tumoral predisposition in type 1 neurofibromatosis : a case report | eng |
| dc.type | contribution to journal | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 701 | |
| oaire.citation.startPage | 694 | |
| oaire.citation.title | Journal of Surgery and Research | |
| oaire.citation.volume | 4 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |