Evidence map›Paper›PMID 41309810›Full record

ArticleScientific reports2025

Spatial gene expression profiling reveals the distinct microenvironment of tuberous sclerosis complex-associated angiomyolipoma.

Ryuta Watanabe, Tetsuya Fukumoto, Noriyoshi Miura, Mie Kurata, Riko Kitazawa, Tadahiko Kikugawa, Takashi Saika

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 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.

  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

7 authors.

Ryuta WatanabeDepartment of Urology, Ehime University Hospital, Toon, Japan. watanabe.ryuta.cu@ehime-u.ac.jp.
Tetsuya FukumotoDepartment of Urology, Ehime University Hospital, Toon, Japan.
Noriyoshi MiuraDepartment of Urology, Ehime University Hospital, Toon, Japan.
Mie KurataDepartment of Analytical Pathology, Ehime University Graduate School of Medicine, Toon, Japan.
Riko KitazawaDivision of Diagnostic Pathology, Ehime University Hospital, Toon, Japan.
Tadahiko KikugawaDepartment of Urology, Ehime University Hospital, Toon, Japan.
Takashi SaikaDepartment of Urology, Ehime University Hospital, Toon, Japan.

Funding

Japan Society for the Promotion of Science KAKENHI 22KK0135Japan Society for the Promotion of Science,Japan KAKENHI 22K09449Takahashi Industrial and Economic Research Foundation N/ATokumori Yasumoto Memorial Trust for Researchers on Tuberous Sclerosis Complex and Related Rare Neurological Diseases N/A
6 · The paper itself

Abstract

The aim of this study was to characterize the transcriptional landscape of tuberous sclerosis complex-associated renal angiomyolipomas (TSC-AMLs) using spatial transcriptomics and to compare it with sporadic AMLs and renal cell carcinoma (RCC) to identify TSC-specific molecular features. Spatial gene expression analysis (CytAssist Visium) was performed on formalin-fixed, paraffin-embedded sections from one case each of TSC-AML, sporadic AML, and RCC. Unsupervised clustering revealed that TSC-AML and sporadic AML, unlike RCC, displayed triphasic tumor structures with vascular, smooth muscle, and adipose components expressing canonical perivascular epithelioid cell markers such as PMEL, MLANA, ACTB, and DES. TSC1 and TSC2 were downregulated, and mild upregulation of MTOR, MLST8, and RPTOR was observed, consistent with mTORC1 hyperactivation, whereas RCC showed broader pathway activation. Spatial pathway analysis indicated shared differentiation programs in smooth muscle regions but unique angiogenesis, extracellular matrix remodeling (Wnt and NABA matrisome), and lipid metabolic (PPAR signaling) enrichment in TSC-AML. Comparative profiling identified 42 genes uniquely upregulated in TSC-AML, including GRIA2, FABP4, and IL33, defining candidate TSC-AML-enriched features. Despite the single-case design, this pilot study provides hypothesis-generating insights into TSC-associated renal tumorigenesis and highlights potential biomarkers for future investigation.

Indexed as

AngiomyolipomaBiomarkers, TumorKidney NeoplasmsTuberous SclerosisAdultAgedCarcinoma, Renal CellFemaleHumansKidneyMaleMiddle AgedSpatial TranscriptomicsTumor MicroenvironmentBiomarkers, TumorAngiomyolipomamTOR signaling pathwaySpatial transcriptomicsTuberous sclerosis complexTumor microenvironment

Identifiers

PMID41309810
PMCPMC12660837

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.