Omics · dataset · 2026
Supplementary file 1_Case Report: Melanocyte-associated mTORC1-related molecular features in an atypical large congenital melanocytic naevus.docx
Listed in figshare and Loughborough Research Repository and GRANTS Data and UP Research Data Repository — shown once because both records carry DOI 10.3389/fmed.2026.1962371.s001
<p>Congenital melanocytic naevi (CMN) are usually associated with activating alterations in NRAS or BRAF, but some extensive lesions lack detectable canonical hotspot variants.
Description
We report a 9-year-old boy with a large craniofacial CMN involving the face, scalp, upper eyelid and bulbar conjunctiva, with deep extension, mechanical ptosis and secondary amblyopia. Histology showed benign dermal melanocytic proliferation, and magnetic resonance imaging showed no neurocutaneous melanosis.
High-depth whole-exome sequencing detected no canonical NRAS or BRAF hotspot variant at or above the prespecified reporting threshold. A maternally inherited TSC2 c.1307C>T (p.Pro436Leu) variant was classified as a variant of uncertain significance. Multiplex immunofluorescence showed greater p-S6 positivity among SOX10-positive cells in lesional tissue than in marginal normal skin.
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Single-cell RNA sequencing showed cell-type-specific variation in mechanistic target of rapamycin complex 1 (mTORC1) scores within the lesion; naevus cells had higher scores than fibroblasts and pericytes but not endothelial or hair follicle cells. These single-patient findings provide descriptive evidence of lesion-associated mTORC1-related molecular features and support pathway-level profiling in atypical CMN, without establishing disease-specific mTORC1 hyperactivation or causality for the TSC2 variant.</p>
Links
Where it is published
- DOI doi.org/10.3389/fmed.2026.1962371.s001 ↗
DOI / persistent id · from figshare com
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from figshare com
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Economics & Finance · Economics & Finance · Engineering · Engineering · Engineering · Foetal development and medicine · Foetal development and medicine · Foetal development and medicine · Foetal development and medicine · Humanities · Humanities · Humanities · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Ocean & Atmospheric Science · Psychology & Behavioral Science · Single-cell RNA sequencing · Single-cell RNA sequencing · Single-cell RNA sequencing · Single-cell RNA sequencing · Social Science · Social Science · Social Science
- Inferred from text
- Imaging 75% · Magnetic resonance imaging 75% · RNA sequencing 75% · Sequencing 75%
Provenance · 4 source records, 49 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| figshare | oai:figshare.com:article/34053666 | 7 d ago | JSON v1 |
| Loughborough Research Repository | oai:figshare.com:article/34053666 | 7 d ago | JSON v1 |
| GRANTS Data | oai:figshare.com:article/34053666 | 7 d ago | JSON v1 |
| UP Research Data Repository | oai:figshare.com:article/34053666 | 7 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].anzsrc:field:321501 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Foetal Development and Medicine'] |
| concepts[field].anzsrc:field:321501 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Foetal Development and Medicine'] |
| concepts[field].anzsrc:field:321501 | mapping · grantsdata jst go jp | vocabulary-mapper@1.0.0 | keywords['Foetal Development and Medicine'] |
| concepts[field].anzsrc:field:321501 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Foetal Development and Medicine'] |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:engineering | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:humanities | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:materials-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[modality].local:modality:imaging | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:mri | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:rna-seq | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:single-cell-rna-seq | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['single-cell RNA sequencing'] |
| concepts[modality].local:modality:single-cell-rna-seq | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['single-cell RNA sequencing'] |
| concepts[modality].local:modality:single-cell-rna-seq | mapping · grantsdata jst go jp | vocabulary-mapper@1.0.0 | keywords['single-cell RNA sequencing'] |
| concepts[modality].local:modality:single-cell-rna-seq | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['single-cell RNA sequencing'] |
| description | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/description |
| license | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/rights |
| publication_date | source · figshare com | connector:figshare_com@1.0.0 | |
| title | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/title |