Evidence map›Paper›PMID 40050354›Full record

ArticleNPJ precision oncology2025

Extended spectrum of cancers in PTEN hamartoma tumor syndrome.

Lamis Yehia, Gilman Plitt, Ann M Tushar, Darren Liu, Julia Joo, Ying Ni, Sujata Patil, Charis Eng

Abstract read
In one paragraph

Article in NPJ precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
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  7. Article
  8. Population-based Characterization of PTEN Hamartoma Tumor Syndrome.medRxiv : the preprint server for health sciences · 2025
    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

8 authors.

Lamis YehiaGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA. yehial@ccf.org.
Gilman PlittGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Ann M TusharGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Darren LiuGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Julia JooGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Ying NiCenter for Immunotherapy and Precision Immuno-Oncology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Sujata PatilDepartment of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Charis EngGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.

Funding

Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI MUSTAFA SAHIN · 2014 to 2026
$20.1M
Modeling Autism and Comorbid Cancer Risk in Individuals with Germline PTEN MutationsR01HD105049 · NICHD · CLEVELAND CLINIC LERNER COM-CWRU · PI Ying Ni, Sujata Patil · 2022 to 2026
$1.8M
American Cancer Society RPG-02-151-01-CCEEunice Kennedy Shriver National Institute of Child Health and Human Development R01HD105049NICHD NIH HHS R01 HD105049NINDS NIH HHS U54 NS092090NINDS NIH HHS U54NS092090
6 · The paper itself

Abstract

PTEN hamartoma tumor syndrome (PHTS) is associated with increased lifetime risks of breast, thyroid, kidney, endometrial, and colorectal cancers, as well as melanoma (collectively, component cancers). We sought to characterize non-component cancers (NCC) in PHTS. Of 701 research participants with PHTS, 340 (49%) had cancer, with 101 (30%) having at least one NCC. Interestingly, 71 (70%) of those with NCC had at least one other PHTS component malignancy. Patients with pathogenic PTEN variants showed higher risks for prostate cancer and soft tissue sarcomas at younger ages than the general population. A literature survey showed independent cases of NCC in PHTS, with PTEN-related molecular changes including second-hit somatic PTEN alterations in a subset of various specimens. We recommend increased awareness regarding NCC in individuals with PHTS, particularly increased risks for prostate cancer and sarcoma. Further studies are needed to define age-related penetrance and accordingly, the appropriate strategies for cancer risk management.

Identifiers

PMID40050354
PMCPMC11885834

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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.