Data · dataset · 2025
Distinctive Genomic Features of Hydroa Vacciniforme Lymphoproliferative Disorder in Latin American Patients: A Multicenter Multi-Omics Study
Listed in Teesside University Research Data Repository
This study was used to determine clinicopathological features and molecular profiles of HV-LPD patients from Latin America and Mexico.
Description
We performed a clinicopathologic review of 43 HV-LPD cases from Latin America and Mexico. We also executed the first comprehensive multi-omics study of 28 Hispanic and Latin American HV-LPD patients, incorporating whole-exome and RNA sequencing, and copy number variation profiling.
Analysis revealed somatic mutations, with epigenetic regulator KMT2D being the most frequently mutated gene (28%), followed by CREBBP (21.4%), and BCOR (14.3%). Inactivation of tumor suppressor genes (TSG), including ATM (14.3%), MLH1 (10.7%) and BARD1 (10.7%) were observed. Copy number analysis revealed deletions involving TSGs, MAP2K4 (50%), SMARCB1 (36%), FANCA (36%) and PRDM1 (14.2%) .
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Differential gene expression analysis identified significant gene overexpression in cytokine signaling, NK/T-cell activity, and JAK signaling. Analysis of serial biopsies at two different time points in three patients with HV-LPD revealed increased EBV RNA and progressive accumulation of mutations, particularly in epigenetic regulator genes including KMT2D alterations. Our findings suggest that disruption of KMT2D and other epigenetic regulators, with subsequent inactivation of tumor suppressor genes, is key in HV-LPD development in this Latin American cohort.
Links
Where it is published
- DOI doi.org/10.17632/dxmpmtx8zn.1 ↗
DOI / persistent id · from researchdata tees ac uk
Catalogue records · 1
- OAI-PMH record data.mendeley.com/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Adata… ↗
metadata API · from researchdata tees ac uk
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Cancer 65% · RNA sequencing 75% · Sequencing 75%
Provenance · 1 source records, 13 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| Teesside University Research Data Repository | oai:data.mendeley.com/dxmpmtx8zn.1 | 9 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[disease].local:disease:cancer | enrichment · researchdata tees ac uk | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[field].local:field:earth-environmental | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[modality].local:modality:rna-seq | enrichment · researchdata tees ac uk | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · researchdata tees ac uk | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/description |
| license | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/rights |
| publication_date | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| title | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/title |