Evidence map›Paper›PMID 35122417›Full record

ArticleMolecular genetics & genomic medicine2022

Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease.

Elizabeth Lee, Peiyong Guan, Abner Herbert Lim, Jui Wan Loh, Grace Fangmin Tan, Tracy Loh, Dave Yong Xiang Ng, Jing Yi Lee, Shane Goh, Wei Liu and 3 more

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

13 authors at 4 institutions in 1 country.

Elizabeth LeeDivision of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
Peiyong GuanLaboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.ORCID 0000-0001-9958-0137
Abner Herbert LimLaboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.
Jui Wan LohLaboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.
Grace Fangmin TanDivision of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
Tracy LohDepartment of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.
Dave Yong Xiang NgLaboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.
Jing Yi LeeLaboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.
Shane GohCancer Discovery Hub, National Cancer Centre Singapore, Singapore, Singapore.
Wei LiuCancer Discovery Hub, National Cancer Centre Singapore, Singapore, Singapore.
Cedric Chuan-Young NgCancer Discovery Hub, National Cancer Centre Singapore, Singapore, Singapore.
Bin Tean TehLaboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.
Jason Yongsheng ChanDivision of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.ORCID 0000-0002-4801-3703
National Cancer Centre Singapore · SGDuke-NUS Medical School · SGAgency for Science, Technology and Research · SGSingapore General Hospital · SG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutosomal dominant polycystic kidney disease (ADPKD) is an inherited cystic kidney disease associated with a spectrum of various renal and extrarenal manifestations, including increased risk of kidney cancers. Here, we present the initial molecular description of sarcomatoid renal cell carcinoma (sRCC) arising in the setting of ADPKD.

methodsMultiregion whole-exome sequencing and whole transcriptomic sequencing were used to examine intratumoral molecular heterogeneity among histologically-distinct spindle (sarcomatoid), epithelioid, or biphasic compartments within the tumor and compared with the non-malignant ADPKD component.

resultsSpindle and biphasic components harbored several overlapping driver gene mutations, but do not share any with the epithelioid component. Mutations in ATM, CTNNB1, and NF2 were present only in the biphasic and spindle components, while mutations in BID, FLT3, ARID1B, and SMARCA2 were present only in the epithelioid component. We observed dichotomous evolutionary pathways in the development of epithelioid and spindle compartments, involving early mutations in TP53 and ATM/CTNNB1/NF2 respectively. Wnt, PI3K-mTOR, and MAPK signaling pathways, known key mechanisms involved in ADPKD development, featured prominently in the sarcomatoid component.

conclusionThis highlights that common pro-oncogenic signals are present between ADPKD and sRCC providing insights into their shared pathobiology.

Indexed as

Carcinoma, Renal CellKidney NeoplasmsPolycystic Kidney, Autosomal DominantPolycystic Kidney DiseasesExome SequencingFemaleHumansMalegeneticshereditaryphylogenytumor evolution

Identifiers

PMID35122417
PMCPMC8922955
OpenAlexW4210587367

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.