Evidence map›Paper›PMID 33943042›Full record

ArticleMolecular genetics & genomic medicine2021

Germline and somatic mutations in the pathology of pineal cyst: A whole-exome sequencing study of 93 individuals.

Yuanqing Yan, Rebecca Martinez, Maria N Rasheed, Joshua Cahal, Zhen Xu, Yanning Rui, Krista J Qualmann, John P Hagan, Dong H Kim

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 52% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

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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

9 authors at 2 institutions in 1 country.

Yuanqing YanVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0002-0094-7726
Rebecca MartinezVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Maria N RasheedVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Joshua CahalVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Zhen XuVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Yanning RuiVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Krista J QualmannVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.ORCID 0000-0001-8815-6509
John P HaganVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Dong H KimVivian L. Smith Department of Neurosurgery, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
The University of Texas Health Science Center at Houston · USMemorial Hermann · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPineal cyst is a benign lesion commonly occurring in people of any age. Until now, the underlying molecular alterations have not been explored.

methodsWe performed whole exome sequencing of 93 germline samples and 21 pineal cyst tissue samples to illustrate its genetic architecture and somatic mutations. The dominant and recessive inheritance modes were considered, and a probability was calculated to evaluate the significance of variant overrepresentation.

resultsBy analyzing pineal cyst as a Mendelian disease with a dominant inheritance pattern, we identified 42,325 rare germline variants, and NM_001004711.1:c.476A>G was highly enriched (FDR<0.2). By analyzing it as a recessive disorder, we identified 753 homozygous rare variants detected in at least one pineal cyst sample each. One STIM2 rare variant, NM_001169117.1:c.1652C>T, was overrepresented (FDR<0.05). Analyzing at a gene-based level, we identified a list of the most commonlymutated germline genes, including POP4, GNGT2 and TMEM254. A somatic mutation analysis of 21 samples identified 16 variants in 15 genes, which mainly participated in the biological processes of gene expression and epigenetic regulation, immune response modulation, and transferase activity.

conclusionThese molecular profiles are novel for this condition and provide data for investigators interested in pineal cysts.

Indexed as

Germ-Line MutationAdolescentAdultCystsExome SequencingFemaleGTP-Binding Protein gamma SubunitsHeterozygoteHomozygoteHumansMaleMiddle AgedPhenotypePineal GlandRibonucleasesRibonucleoproteinsGNGT2 protein, humanGTP-Binding Protein gamma SubunitsPOP4 protein, humanRibonucleasesRibonucleoproteinsSTIM2 protein, humanStromal Interaction Molecule 2germline mutationpineal cystsomatic mutationwhole exome sequencing

Identifiers

PMID33943042
PMCPMC8222845
OpenAlexW3158222731

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Registered trials

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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.