Evidence map›Paper›PMID 38760587›Full record

ArticleNature medicine2024

Prediction of DNA methylation-based tumor types from histopathology in central nervous system tumors with deep learning.

Danh-Tai Hoang, Eldad D Shulman, Rust Turakulov, Zied Abdullaev, Omkar Singh, Emma M Campagnolo, H Lalchungnunga, Eric A Stone, MacLean P Nasrallah, Eytan Ruppin and 1 more

Abstract read
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In one paragraph

Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing 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

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

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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

11 authors.

Danh-Tai Hoang *Biological Data Science Institute, College of Science, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID 0000-0003-2640-4196
Eldad D Shulman *Cancer Data Science Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0002-1859-8819
Rust TurakulovLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Zied AbdullaevLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.ORCID 0000-0001-6345-2088
Omkar SinghLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Emma M CampagnoloCancer Data Science Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
H LalchungnungaLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
Eric A StoneBiological Data Science Institute, College of Science, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID 0000-0002-2725-4209
MacLean P NasrallahDivision of Neuropathology, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0003-4861-0898
Eytan RuppinCancer Data Science Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA. eytan.ruppin@nih.gov.ORCID 0000-0002-7862-3940
Kenneth AldapeLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA. kenneth.aldape@nih.gov.ORCID 0000-0001-5119-7550

Funding

Intramural NIH HHS
6 · The paper itself

Abstract

Precision in the diagnosis of diverse central nervous system (CNS) tumor types is crucial for optimal treatment. DNA methylation profiles, which capture the methylation status of thousands of individual CpG sites, are state-of-the-art data-driven means to enhance diagnostic accuracy but are also time consuming and not widely available. Here, to address these limitations, we developed Deep lEarning from histoPathoLOgy and methYlation (DEPLOY), a deep learning model that classifies CNS tumors to ten major categories from histopathology. DEPLOY integrates three distinct components: the first classifies CNS tumors directly from slide images ('direct model'), the second initially generates predictions for DNA methylation beta values, which are subsequently used for tumor classification ('indirect model'), and the third classifies tumor types directly from routinely available patient demographics. First, we find that DEPLOY accurately predicts beta values from histopathology images. Second, using a ten-class model trained on an internal dataset of 1,796 patients, we predict the tumor categories in three independent external test datasets including 2,156 patients, achieving an overall accuracy of 95% and balanced accuracy of 91% on samples that are predicted with high confidence. These results showcase the potential future use of DEPLOY to assist pathologists in diagnosing CNS tumors within a clinically relevant short time frame.

Indexed as

Central Nervous System NeoplasmsDeep LearningDNA MethylationCpG IslandsFemaleHumansMale

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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.