Publication

Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome.

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Urologia2017PMID 28256701stubpubmedPublished

Abstract

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Linked entities

Linked entities (2)

How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.

Validated 2

geneVHLcivic_curation1.00
variantVHL Exon 3 Deletioncivic_curation1.00

Curated evidence

Evidence citing this paper (2)

civicCuratedShowing 1–2 of 2 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL Exon 3 Deletion2
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	N/A N/A	2	accepted	EID6223 A 33Y male presented with multiple bilateral renal masses, epididymis cyst, pancreatic cysts and renal cysts. The patient previously underwent resections of medullary hemangioblastoma and endolymphati… (full text at CIViC) PMID 28256701 · Allasia et al., 2017 · Open in CIViC	civic
(diagnostic)	Von Hippel-Lindau DiseaseUNRESOLVED	Diagnostic	C	Supports Positive	3	rejected	EID7132 A 33 year old man confirmed with a germline VHL mutation (exon 3 deletion) presented with bilateral multiple renal masses, renal cyst, pancreatic cyst, epididymal cyst, endolymphatic sac tumour, and h… (full text at CIViC) PMID 28256701 · Allasia et al., 2017 · Open in CIViC	civic