Papillary Tumor of the Pineal Region Identified by DNA Methylation Leads to the Incidental Finding of Germline Mutation

Nikole O'Neal, Eric Goold, Fatemeh Zarei Haji Abadi, Jeffrey Okojie, Jared Barrott

Abstract readCase ReportsSystematic Review

In one paragraph

Synthesis in Current oncology (Toronto, Ont.), 2025. 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

–field-weighted citation impact

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.

Genetic landscape and molecular targets in pediatric pineal tumors.Neuro-oncology advances
Review

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

5 authors.

Nikole O'NealSW Idaho Biomedical & Biosafety Center, Twin Falls, ID 83301, USA.ORCID 0009-0007-6551-6728

Eric GooldDepartment of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT 84108, USA.

Fatemeh Zarei Haji AbadiDepartment of Molecular Pharmaceutics, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA.

Jeffrey OkojieDepartment of Cell Biology and Physiology, College of Life Sciences, Brigham Young University, Provo, UT 84602, USA.ORCID 0000-0002-2283-3586

Jared BarrottDepartment of Cell Biology and Physiology, College of Life Sciences, Brigham Young University, Provo, UT 84602, USA.ORCID 0000-0001-6059-9009

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Distinct subgroups of rare brain tumors can be molecularly classified using whole genome DNA methylation profiling and next-generation sequencing. Furthermore, these tools can identify germline mutations contributing to carcinogenesis. Access to molecular testing in the clinical setting is vital for pathology laboratories to make an accurate diagnosis. One molecularly unique brain tumor requiring such tools is the papillary tumor of the pineal region (PTPR). Herein, we present a case report of a 21-year-old male presenting with macrocephaly and obstructive hydrocephalus due to the PTPR. Next-generation sequencing identified a pathogenic

Indexed as

Brain NeoplasmsDNA MethylationGerm-Line MutationHamartoma Syndrome, MultiplePineal GlandPinealomaPTEN PhosphohydrolaseHumansIncidental FindingsMaleYoung AdultPTEN PhosphohydrolasePTEN protein, humanDNA methylation profilingmolecular analysisneuropathologynext generation sequencingpapillary tumor of the pineal regionPTEN hamartoma tumor syndrome

Identifiers

PMID40136376

DOI10.3390/curroncol32030172

PMCPMC11941023

What OpenQuestion holds

Textmetadata

LicenceCC BY

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.