Article

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation

2021-04-06

Abstract excerpt

Routine examination of an asymptomatic 40-year-old female patient revealed a right unilateral and unifocal renal mass. The patient underwent a partial nephrectomy, and the renal specimen was sent for histopathologic examination. Molecular testing revealed a heterozygous variant NM_003000.3:c.412G>T, p.(Asp138Tyr), in SDHB gene.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: dda185c6-9769-5fa3-b58e-6c868d7c2067
DOI: 10.22541/au.161773712.21685995/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutationDOI 10.22541/au.161773712.21685995/v1Read

A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic ProfilingSemantic proximity Read

Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma.Semantic proximity Read

New Insights Into Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: A Comprehensive Analysis of a Case Series With Novel Mutation Sites.Semantic proximity Read

A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.Semantic proximity Read

SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy responseSemantic proximity Read

Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects.Semantic proximity Read

Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma.Semantic proximity Read

Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in CancerSemantic proximity Read

Succinate Dehydrogenase-Deficient Renal Cancer Featuring Fructose-1, 6-Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI / SNF Chromatin Remodeling Complex Aberrations: A Rare Case ReportSemantic proximity Read

Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinomaSemantic proximity Read

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.Semantic proximity Read

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.Semantic proximity Read