Omics · study · 2026
Fanconi anemia: matrix remodeling and oral carcinogenesis
Listed in NCBI GEO
Fanconi anemia (FA) increases the risk of early-onset oral potentially malignant disorders (OPMD) and oral squamous cell carcinoma; however, the earliest stromal determinants of malignant progression remain undefined.
Description
We investigated whether extracellular matrix (ECM) remodeling constitutes an initial and quantifiable hallmark of FA-associated OPMD. A total of 119 participants were included: controls with normal mucosa or oral leukoplakia (OL) and individuals with FA.
Histopathology, immunohistochemistry (p53, Ki-67, α-SMA, elastin), picrosirius red staining, and multiphoton microscopy combining second-harmonic generation and two-photon fluorescence were performed, complemented by salivary and transcriptomic profiling. Additionally, FANCA/p53EPI and p53 murine models were used to assess stromal remodeling. Compared with sporadic OL, FA-OL exhibited reduced collagen density and elastin autofluorescence, higher collagen-to-elastin ratio, and diminished p53 expression.
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Salivary procollagen type 1 N-terminal propeptide declined and correlated with matrix-derived optical parameters. RNA sequencing revealed upregulated ECM structural genes and downregulated ECM regulators in FA patients. In FA-mimicking mice, collagen and elastin signals progressively decreased.
Collectively, multimodal imaging and transcriptomic data unveil ECM disruption as a defining feature of FA-OL. Matrix disorganization, coupled with epithelial p53 loss delineates a permissive stromal niche that links genomic instability to malignant transformation.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE313nnn/GSE313834 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE313834 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1381651 ncbi.nlm.nih.gov/bioproject/PRJNA1381651 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Imaging 75% · Microscopy 75% · RNA sequencing 75% · Sequencing 75%
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE313834 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:imaging | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:microscopy | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |