Evidence map›Paper›PMID 31326218›Full record

SynthesisEuropean urology2019

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.

Maria I Carlo, A Ari Hakimi, Grant D Stewart, Gennady Bratslavsky, James Brugarolas, Ying-Bei Chen, W Marston Linehan, Eamonn R Maher, Maria J Merino, Kenneth Offit and 3 more

Open access · greenAbstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in European urology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 3 pooled it
5.6field-weighted citation impact, top 3% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

61 citing papers in PubMed, 3 syntheses or guidelines pooled it, 114 citations in OpenAlex.

  1. Pooled it
  2. New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
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1 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 7 institutions in 2 countries.

Maria I CarloMemorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address: carlom@mskcc.org.
A Ari HakimiMemorial Sloan Kettering Cancer Center, New York, NY, USA.
Grant D StewartDepartment of Surgery, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Gennady BratslavskyUpstate Medical University, Syracuse, New York, NY, USA.
James BrugarolasUT Southwestern Medical Center, Dallas, TX, USA.
Ying-Bei ChenMemorial Sloan Kettering Cancer Center, New York, NY, USA.
W Marston LinehanNational Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Eamonn R MaherDepartment of Surgery, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Cenre, Cambridge, UK.
Maria J MerinoNational Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Kenneth OffitMemorial Sloan Kettering Cancer Center, New York, NY, USA.
Victor E ReuterMemorial Sloan Kettering Cancer Center, New York, NY, USA.
Brian ShuchDavid Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jonathan A ColemanMemorial Sloan Kettering Cancer Center, New York, NY, USA.
Memorial Sloan Kettering Cancer Center · USUniversity of Cambridge · GBNational Cancer Institute · USNational Institutes of Health · USSouthwestern Medical CenterSUNY Upstate Medical University · USUniversity of California, Los Angeles · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
microRNA Profiling in the Spectrum of Kidney TumorsZIABC011405 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MERINO, MARIA · 2011 to 2025
$2.9M
NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

contextHereditary cases account for about 5% of all cases of renal cell carcinoma (RCC). With advances in next-generation sequencing, several new hereditary syndromes have been described in the last few years.

objectiveTo review and summarise the recent preclinical and clinical literature in hereditary renal cancer. EVIDENCE ACQUISITION: A systematic review of the literature was performed in November 2018 using PubMed and OMIM databases, with an emphasis on kidney cancer, genetics and genomics, clinical criteria, and management. EVIDENCE SYNTHESIS: Several autosomal dominant hereditary RCC syndromes have been described, including those related to germline pathogenic variants in VHL, MET, FH, TSC1/TSC2, FLCN, SDHA/B/C/D, BAP1, CDC73, and MITF. Clinical spectrum of SDH, BAP1, and MITF is still being defined, although these appear to be associated with a lower incidence of RCC. FH and likely BAP1 RCC are associated with more aggressive disease. Preclinical and clinical studies show that using systemic therapy that exploits specific genetic pathways is a promising strategy.

conclusionsThere are several well-described hereditary RCC syndromes, as well as recently identified ones, for which the full clinical spectrum is yet to be defined. In the new era of precision medicine, identification of these syndromes may play an important role in management and systemic treatment selection. PATIENT SUMMARY: This review covers updates in the diagnosis and management of familial kidney cancer syndromes. We describe updates in testing and management of the most common syndromes such as von Hippel-Lindau, and hereditary leiomyomatosis and renal cell carcinoma. We also provide insights into recently described familial kidney cancer syndromes.

Indexed as

Carcinoma, Renal CellHumansLeiomyomatosisNeoplastic Syndromes, HereditarySkin NeoplasmsSyndromeTuberous SclerosisUterine Neoplasmsvon Hippel-Lindau DiseaseBirt-Hogg-Dubé syndromeGenetic counsellingHereditary cancerHereditary leiomyomatosis renal cell carcinomaHereditary papillary renal cell carcinomaKidney cancerRenal cell carcinomaTuberous sclerosis complexvon Hippel-Lindau disease

Identifiers

PMID31326218
PMCPMC7673107
OpenAlexW2955467137

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.