FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3157282660> ?p ?o ?g. }

• W3157282660 abstract "Abstract Background: Carney triad is a rare multiple-neoplasia syndrome presenting as an association of paragangliomas (PGL), gastrointestinal stromal tumors (GIST), and pulmonary chondromas (CHO). Succinate dehydrogenase deficiency has been associated with several neoplasias, including Carney triad, renal cell carcinoma (RCC) and those associated with hereditary PGL/ pheochromocytoma (PHEO) syndromes. Clinical Case: A 57-year-old male diagnosed with hypertension at age 49, presented with a gradual increase in blood pressure over a period of 12 months. For seven years following his diagnosis of hypertension, the patient experienced episodic increases in blood pressure, to a systolic pressure greater than 180 mmHg associated with a tight band sensation around his forehead lasting half a day. Abdominal computed tomography (CT) revealed a left adrenal adenoma, a 5.1 cm para-aortic mass, and a right renal superior pole lesion measuring 2.5 cm, which was suspicious for a carcinoma. 123I-metaiodobenzylguanidine (123I-MIBG) and 18F-fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) scans were performed, which suggested the para-aortic mass to be consistent with a PGL. Additionally, 18F-FDG uptake was noted in the gastroesophageal region and was suspicious for a GIST. The left adrenal mass was not associated with 123I-MIBG or 18F-FDG activity. Chest CT demonstrated a right middle lobe lung lesion suggestive of a CHO, although no biopsy was performed. A diagnosis of Carney triad was made. The patient underwent surgical resection of the PGL and GIST, as well as a partial right nephrectomy. The PGL and GIST were positive for SDHA and negative for SDHB by immunohistochemical (IHC) staining. Pathology from the renal lesion was consistent with a 2.3 cm conventional clear cell renal carcinoma, with positive staining for SDHA and SDHB by IHC. The patient was found to harbor a germline heterozygous pathogenic variant (c.91 C&gt;T, p.R31X) in SDHA which has been previously reported and results in loss of function of SDHA. SHDC hypermethylation was not detected in the PGL, GIST, or RCC. Additionally, DNA sequencing of the RCC did not indicate loss of heterozygosity at the variant region of interest. Although the SDHA disease-causing variant is responsible for the patients Carney triad phenotype, it is unclear if this variant is causative of the RCC. Conclusion: This is a novel presentation of a germline inactivating SDHA pathogenic variant in a patient with Carney triad complicated by RCC. However, an SDHA disease-causing variant was previously reported in a patient with comorbid GIST and RCC. This case provides further support to the increasing evidence that SDHx pathogenic variants may predispose patients to develop renal neoplasms." @default.
• W3157282660 created "2021-05-10" @default.
• W3157282660 creator A5009302353 @default.
• W3157282660 creator A5010409217 @default.
• W3157282660 creator A5013192467 @default.
• W3157282660 creator A5013942288 @default.
• W3157282660 creator A5028135050 @default.
• W3157282660 creator A5031897654 @default.
• W3157282660 creator A5036180093 @default.
• W3157282660 creator A5038356661 @default.
• W3157282660 creator A5076156629 @default.
• W3157282660 creator A5083013593 @default.
• W3157282660 date "2021-05-01" @default.
• W3157282660 modified "2023-10-12" @default.
• W3157282660 title "A Case of Carney Triad Complicated by Renal Cell Carcinoma and a Germline SDHA Pathogenic Variant" @default.
• W3157282660 doi "https://doi.org/10.1210/jendso/bvab048.2015" @default.
• W3157282660 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8089212" @default.
• W3157282660 hasPublicationYear "2021" @default.
• W3157282660 type Work @default.
• W3157282660 sameAs 3157282660 @default.
• W3157282660 citedByCount "0" @default.
• W3157282660 crossrefType "journal-article" @default.
• W3157282660 hasAuthorship W3157282660A5009302353 @default.
• W3157282660 hasAuthorship W3157282660A5010409217 @default.
• W3157282660 hasAuthorship W3157282660A5013192467 @default.
• W3157282660 hasAuthorship W3157282660A5013942288 @default.
• W3157282660 hasAuthorship W3157282660A5028135050 @default.
• W3157282660 hasAuthorship W3157282660A5031897654 @default.
• W3157282660 hasAuthorship W3157282660A5036180093 @default.
• W3157282660 hasAuthorship W3157282660A5038356661 @default.
• W3157282660 hasAuthorship W3157282660A5076156629 @default.
• W3157282660 hasAuthorship W3157282660A5083013593 @default.
• W3157282660 hasBestOaLocation W31572826601 @default.
• W3157282660 hasConcept C126322002 @default.
• W3157282660 hasConcept C126838900 @default.
• W3157282660 hasConcept C142724271 @default.
• W3157282660 hasConcept C16930146 @default.
• W3157282660 hasConcept C2775922572 @default.
• W3157282660 hasConcept C2776734335 @default.
• W3157282660 hasConcept C2777472916 @default.
• W3157282660 hasConcept C71924100 @default.
• W3157282660 hasConcept C84393581 @default.
• W3157282660 hasConceptScore W3157282660C126322002 @default.
• W3157282660 hasConceptScore W3157282660C126838900 @default.
• W3157282660 hasConceptScore W3157282660C142724271 @default.
• W3157282660 hasConceptScore W3157282660C16930146 @default.
• W3157282660 hasConceptScore W3157282660C2775922572 @default.
• W3157282660 hasConceptScore W3157282660C2776734335 @default.
• W3157282660 hasConceptScore W3157282660C2777472916 @default.
• W3157282660 hasConceptScore W3157282660C71924100 @default.
• W3157282660 hasConceptScore W3157282660C84393581 @default.
• W3157282660 hasLocation W31572826601 @default.
• W3157282660 hasLocation W31572826602 @default.
• W3157282660 hasOpenAccess W3157282660 @default.
• W3157282660 hasPrimaryLocation W31572826601 @default.
• W3157282660 hasRelatedWork W10879881 @default.
• W3157282660 hasRelatedWork W12788751 @default.
• W3157282660 hasRelatedWork W13322795 @default.
• W3157282660 hasRelatedWork W1869792 @default.
• W3157282660 hasRelatedWork W2439652 @default.
• W3157282660 hasRelatedWork W2785252 @default.
• W3157282660 hasRelatedWork W3542841 @default.
• W3157282660 hasRelatedWork W4396758 @default.
• W3157282660 hasRelatedWork W4730387 @default.
• W3157282660 hasRelatedWork W8849114 @default.
• W3157282660 isParatext "false" @default.
• W3157282660 isRetracted "false" @default.
• W3157282660 magId "3157282660" @default.
• W3157282660 workType "article" @default.