Evidence map›Paper›PMID 36625343›Full record

ArticleMolecular genetics & genomic medicine2023

Comprehensive characterization and building of National Registry of von Hippel-Lindau disease in Brazil.

Tabatha Nakakogue Dallagnol, Eduardo Da Cás, Odery Ramos Junior, José Cláudio Casali-da-Rocha

Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07167329 (The BELIEVE-VHL Trial), which is not on this map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07167329 phase2recruitingnot on this mapstarted 2024, after this paper: background citation

The BELIEVE-VHL Trial: A Real-world Longitudinal Study on Belzutifan's Effectiveness, Pharmacogenetics, and Pharmacoeconomics in Von Hippel-Lindau (VHL) Syndrome Using the HIF2α Inhibitor Belzutifan

TypeinterventionalSponsorJosé Claudio Casali da RochaRan2024 to 2030Enrolled100ConditionsVon Hippel Lindau, Von Hippel Lindau Disease, Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma, Hemangioblastoma (HB) of the Central Nervous System (CNS)ArmsBelzutifan
3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 4 institutions in 1 country.

Tabatha Nakakogue DallagnolDepartment of Medical Oncology, Hospital Erasto Gaertner, Curitiba, Brazil.ORCID 0000-0001-9616-7064
Eduardo Da CásFaculty of Medicine, Universidade Positivo, Curitiba, Brazil.ORCID 0000-0001-5884-8707
Odery Ramos JuniorDepartment of Internal Medicine, Hospital de Clínicas - Universidade Federal do Paraná, Curitiba, Brazil.ORCID 0000-0002-9730-6860
José Cláudio Casali-da-RochaDepartment of Oncogenetics, Hospital do Câncer A.C. Camargo, São Paulo, Brazil.ORCID 0000-0002-1838-2153
AC Camargo Hospital · BRHospital de Clínicas Universidade Federal do Paraná · BRHospital Erasto Gaertner · BRUniversidade Positivo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVon Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromocytoma (PHEO); clear cell renal cell carcinoma (ccRCC); pancreatic and renal cysts (PRC) and pancreatic neuroendocrine neoplasm (PNEN).

methodsThe first characterization of VHL in Brazil was published in 2003 and included 20 families with a history of VHL. The aim of this study was to expand the previous Brazilian cohort to include more families, as well as to collect prospectively both clinical and molecular characteristics of patients with VHL to build the VHL Brazilian Registry (VHLBR). Patients with VHL were selected through review of data from medical records of experts and from social networks of support for families with VHL in Brazil.

resultsA total of 142 subjects representing 62 unrelated Brazilian families with VHL were registered. The mean age of VHL onset was 28.78 years old and 128 individuals (90.1%) had at least one VHL-related lesion. CNS HB was the most common manifestation occurring in 91 (71%) patients, followed by multiple PRC (48.4%), RH (39.8%), ccRCC (28.9%), PHEO (12.5%) and PNEN (7.8%). Of the 97 subjects whose presence of VHL variants was confirmed, 51 (52.6%) had missense variants, 22 (22.7%) large deletions, 10 (10.3%) frameshift, 7 (7.2%) splice site, 4 (4.1%) nonsense and 3 (3.1%) in-frame deletions. Regarding surveillance, 115 (81%) participants had at least one physician responsible for their outpatient follow-up; however, 69 (60%) of them did not report a regular frequency of tests.

conclusionWe built the largest prospective VHLBR with organized collections of clinical and genetic data from families with VHL, which will be helpful to guide policies for VHL care and oncogenetics in Brazil. Although there have been improvements in diagnosis and clinical screening methods, VHL care in Brazil is still deficient, especially regarding surveillance and regular medical appointments with experts.

Indexed as

Carcinoma, Renal CellHemangioblastomaKidney Neoplasmsvon Hippel-Lindau DiseaseAdultBrazilHumansProspective StudiesVon Hippel-Lindau Tumor Suppressor ProteinVon Hippel-Lindau Tumor Suppressor Proteinclinical databasefollow-upgenotype-phenotype correlationVHLvon Hippel-Lindau disease

Identifiers

PMID36625343
PMCPMC10094063
OpenAlexW4313908178

What OpenQuestion holds

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.