Matches in SemOpenAlex for { <https://semopenalex.org/work/W4382776194> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W4382776194 abstract "Abstract Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome caused by pathogenic variants in the MEN1 gene, and most patients with this syndrome initially develop primary hyperparathyroidism (PHPT). Here, we report the case of a family wherein a germline MEN1 variant was detected and multiple pancreatic neuroendocrine tumors (PanNETs) were observed at the initial evaluation. A 40-year-old woman presented with a complaint of abdominal discomfort, and a close examination revealed multiple pancreatic tumors. Distal pancreatectomy with splenectomy was performed, and the diagnosis was nonfunctional PanNETs. Five years later, her 76-year-old mother was referred to the hospital with multiple pancreatic tumors. A genetic test revealed that both patients harbored a previously unreported germline variant in the MEN1 gene. Although it was classified as a variant of uncertain significance, we suspect that it may be associated with the pathogenesis of these lesions. This case report presents a new disease concept—familial isolated pancreatic neuroendocrine tumors, or FIPNETs—in patients harboring a pathogenic variant in the MEN1 gene who experience only pancreatic lesions. We suggest that clinicians consider genetic testing for the MEN1 gene in patients with multiple pancreatic lesions who show no signs of PHPT." @default.
- W4382776194 created "2023-07-02" @default.
- W4382776194 creator A5059152283 @default.
- W4382776194 creator A5059261950 @default.
- W4382776194 creator A5066255641 @default.
- W4382776194 creator A5081309743 @default.
- W4382776194 date "2023-05-01" @default.
- W4382776194 modified "2023-10-07" @default.
- W4382776194 title "A Novel Pathogenic <i>MEN1</i> Gene Variant Identified in a Family With Multiple Pancreatic Neuroendocrine Tumors" @default.
- W4382776194 cites W2086923046 @default.
- W4382776194 cites W2100500987 @default.
- W4382776194 cites W2171395146 @default.
- W4382776194 cites W2215781512 @default.
- W4382776194 cites W2896105190 @default.
- W4382776194 cites W3086142151 @default.
- W4382776194 cites W3088779642 @default.
- W4382776194 cites W3213885184 @default.
- W4382776194 cites W4220658074 @default.
- W4382776194 doi "https://doi.org/10.1210/jcemcr/luad078" @default.
- W4382776194 hasPublicationYear "2023" @default.
- W4382776194 type Work @default.
- W4382776194 citedByCount "0" @default.
- W4382776194 crossrefType "journal-article" @default.
- W4382776194 hasAuthorship W4382776194A5059152283 @default.
- W4382776194 hasAuthorship W4382776194A5059261950 @default.
- W4382776194 hasAuthorship W4382776194A5066255641 @default.
- W4382776194 hasAuthorship W4382776194A5081309743 @default.
- W4382776194 hasBestOaLocation W43827761941 @default.
- W4382776194 hasConcept C104317684 @default.
- W4382776194 hasConcept C109825262 @default.
- W4382776194 hasConcept C126322002 @default.
- W4382776194 hasConcept C13514818 @default.
- W4382776194 hasConcept C142724271 @default.
- W4382776194 hasConcept C2778764654 @default.
- W4382776194 hasConcept C2779053571 @default.
- W4382776194 hasConcept C2779066768 @default.
- W4382776194 hasConcept C2779469564 @default.
- W4382776194 hasConcept C2780053029 @default.
- W4382776194 hasConcept C2780103800 @default.
- W4382776194 hasConcept C2780673598 @default.
- W4382776194 hasConcept C501734568 @default.
- W4382776194 hasConcept C54355233 @default.
- W4382776194 hasConcept C71924100 @default.
- W4382776194 hasConcept C86803240 @default.
- W4382776194 hasConcept C90924648 @default.
- W4382776194 hasConceptScore W4382776194C104317684 @default.
- W4382776194 hasConceptScore W4382776194C109825262 @default.
- W4382776194 hasConceptScore W4382776194C126322002 @default.
- W4382776194 hasConceptScore W4382776194C13514818 @default.
- W4382776194 hasConceptScore W4382776194C142724271 @default.
- W4382776194 hasConceptScore W4382776194C2778764654 @default.
- W4382776194 hasConceptScore W4382776194C2779053571 @default.
- W4382776194 hasConceptScore W4382776194C2779066768 @default.
- W4382776194 hasConceptScore W4382776194C2779469564 @default.
- W4382776194 hasConceptScore W4382776194C2780053029 @default.
- W4382776194 hasConceptScore W4382776194C2780103800 @default.
- W4382776194 hasConceptScore W4382776194C2780673598 @default.
- W4382776194 hasConceptScore W4382776194C501734568 @default.
- W4382776194 hasConceptScore W4382776194C54355233 @default.
- W4382776194 hasConceptScore W4382776194C71924100 @default.
- W4382776194 hasConceptScore W4382776194C86803240 @default.
- W4382776194 hasConceptScore W4382776194C90924648 @default.
- W4382776194 hasIssue "3" @default.
- W4382776194 hasLocation W43827761941 @default.
- W4382776194 hasOpenAccess W4382776194 @default.
- W4382776194 hasPrimaryLocation W43827761941 @default.
- W4382776194 hasRelatedWork W1971417820 @default.
- W4382776194 hasRelatedWork W1973333569 @default.
- W4382776194 hasRelatedWork W1974192919 @default.
- W4382776194 hasRelatedWork W2007235129 @default.
- W4382776194 hasRelatedWork W2022490630 @default.
- W4382776194 hasRelatedWork W2083548413 @default.
- W4382776194 hasRelatedWork W2292450565 @default.
- W4382776194 hasRelatedWork W2620265398 @default.
- W4382776194 hasRelatedWork W2745793308 @default.
- W4382776194 hasRelatedWork W4220786683 @default.
- W4382776194 hasVolume "1" @default.
- W4382776194 isParatext "false" @default.
- W4382776194 isRetracted "false" @default.
- W4382776194 workType "article" @default.