FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2730794633> ?p ?o ?g. }

• W2730794633 abstract "Multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau (VHL) are autosomal-dominant diseases caused by germline mutations in tumor-suppressor genes. A patient with a germline MEN1 mutation and a somatic VHL mutation in the tumor has not been reported. Herein, we report on a patient with MEN1 and a metastatic nonfunctioning pancreatic neuroendocrine tumor (PNET) with a somatic VHL mutation. This patient underwent a pancreaticoduodenectomy for a grade 2 PNET obstructing her pancreatic duct. The patient developed liver and regional lymph node metastases as well as growth of a PNET in the remnant pancreas. As part of a clinical trial for mutation-targeted therapy, a biopsy of the metastatic tumor was obtained. The clinical diagnosis, confirmed by OncoVAR-NET and molecular profiling analysis, revealed MEN1 with a germline deletion in exon 2 and a c.402 deletion C, p.Phe134LeufsX51. In addition, a somatic mutation in the VHL gene-a nonsense mutation, c.529A>T, p.Arg177Ter-was identified by hybrid capture sequencing. The mutations were confirmed by Sanger sequencing. Comparative genomic hybridization showed loss of heterozygosity in both the MEN1 and VHL genes. The patient was treated with sunitinib and had a partial response to treatment. This case illustrates not only that a second hit occurs in tumor suppressor genes but that somatic mutations are also possible in additional tumor suppressor genes. This suggests that targeted therapy selection should include analysis of somatic mutations even when the susceptibility gene is known." @default.
• W2730794633 created "2017-07-14" @default.
• W2730794633 creator A5003828453 @default.
• W2730794633 creator A5004487218 @default.
• W2730794633 creator A5005193665 @default.
• W2730794633 creator A5023012274 @default.
• W2730794633 creator A5065550926 @default.
• W2730794633 creator A5067459859 @default.
• W2730794633 creator A5074641733 @default.
• W2730794633 creator A5076916905 @default.
• W2730794633 creator A5079138231 @default.
• W2730794633 creator A5080209137 @default.
• W2730794633 creator A5082550776 @default.
• W2730794633 creator A5087518693 @default.
• W2730794633 date "2017-07-07" @default.
• W2730794633 modified "2023-09-25" @default.
• W2730794633 title "Somatic VHL Mutation in a Patient With MEN1-Associated Metastatic Pancreatic Neuroendocrine Tumor Responding to Sunitinib Treatment: A Case Report" @default.
• W2730794633 cites W1929903460 @default.
• W2730794633 cites W1966422976 @default.
• W2730794633 cites W1974192919 @default.
• W2730794633 cites W1977494495 @default.
• W2730794633 cites W2005250386 @default.
• W2730794633 cites W2022033224 @default.
• W2730794633 cites W2030588438 @default.
• W2730794633 cites W2036418044 @default.
• W2730794633 cites W2065494273 @default.
• W2730794633 cites W2072771293 @default.
• W2730794633 cites W2074158445 @default.
• W2730794633 cites W2075975440 @default.
• W2730794633 cites W2086923046 @default.
• W2730794633 cites W2099895396 @default.
• W2730794633 cites W2106821496 @default.
• W2730794633 cites W2116642110 @default.
• W2730794633 cites W2118266070 @default.
• W2730794633 cites W2128267006 @default.
• W2730794633 cites W2150620185 @default.
• W2730794633 cites W2158474413 @default.
• W2730794633 cites W2159454581 @default.
• W2730794633 cites W2315235427 @default.
• W2730794633 doi "https://doi.org/10.1210/js.2017-00156" @default.
• W2730794633 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5686673" @default.
• W2730794633 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29264567" @default.
• W2730794633 hasPublicationYear "2017" @default.
• W2730794633 type Work @default.
• W2730794633 sameAs 2730794633 @default.
• W2730794633 citedByCount "4" @default.
• W2730794633 countsByYear W27307946332018 @default.
• W2730794633 countsByYear W27307946332019 @default.
• W2730794633 countsByYear W27307946332022 @default.
• W2730794633 crossrefType "journal-article" @default.
• W2730794633 hasAuthorship W2730794633A5003828453 @default.
• W2730794633 hasAuthorship W2730794633A5004487218 @default.
• W2730794633 hasAuthorship W2730794633A5005193665 @default.
• W2730794633 hasAuthorship W2730794633A5023012274 @default.
• W2730794633 hasAuthorship W2730794633A5065550926 @default.
• W2730794633 hasAuthorship W2730794633A5067459859 @default.
• W2730794633 hasAuthorship W2730794633A5074641733 @default.
• W2730794633 hasAuthorship W2730794633A5076916905 @default.
• W2730794633 hasAuthorship W2730794633A5079138231 @default.
• W2730794633 hasAuthorship W2730794633A5080209137 @default.
• W2730794633 hasAuthorship W2730794633A5082550776 @default.
• W2730794633 hasAuthorship W2730794633A5087518693 @default.
• W2730794633 hasBestOaLocation W27307946331 @default.
• W2730794633 hasConcept C104317684 @default.
• W2730794633 hasConcept C109825262 @default.
• W2730794633 hasConcept C121608353 @default.
• W2730794633 hasConcept C126322002 @default.
• W2730794633 hasConcept C134305767 @default.
• W2730794633 hasConcept C13514818 @default.
• W2730794633 hasConcept C143589142 @default.
• W2730794633 hasConcept C180754005 @default.
• W2730794633 hasConcept C2779066768 @default.
• W2730794633 hasConcept C2779469564 @default.
• W2730794633 hasConcept C2779490328 @default.
• W2730794633 hasConcept C2780103800 @default.
• W2730794633 hasConcept C501734568 @default.
• W2730794633 hasConcept C502942594 @default.
• W2730794633 hasConcept C54355233 @default.
• W2730794633 hasConcept C71924100 @default.
• W2730794633 hasConcept C86803240 @default.
• W2730794633 hasConceptScore W2730794633C104317684 @default.
• W2730794633 hasConceptScore W2730794633C109825262 @default.
• W2730794633 hasConceptScore W2730794633C121608353 @default.
• W2730794633 hasConceptScore W2730794633C126322002 @default.
• W2730794633 hasConceptScore W2730794633C134305767 @default.
• W2730794633 hasConceptScore W2730794633C13514818 @default.
• W2730794633 hasConceptScore W2730794633C143589142 @default.
• W2730794633 hasConceptScore W2730794633C180754005 @default.
• W2730794633 hasConceptScore W2730794633C2779066768 @default.
• W2730794633 hasConceptScore W2730794633C2779469564 @default.
• W2730794633 hasConceptScore W2730794633C2779490328 @default.
• W2730794633 hasConceptScore W2730794633C2780103800 @default.
• W2730794633 hasConceptScore W2730794633C501734568 @default.
• W2730794633 hasConceptScore W2730794633C502942594 @default.
• W2730794633 hasConceptScore W2730794633C54355233 @default.
• W2730794633 hasConceptScore W2730794633C71924100 @default.
• W2730794633 hasConceptScore W2730794633C86803240 @default.
• W2730794633 hasLocation W27307946331 @default.
• W2730794633 hasLocation W27307946332 @default.
• W2730794633 hasLocation W27307946333 @default.

• next