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First report of PDCD10 somatic mutation in liver cavernous malformation
Simona Alibrandi1,2, Luigi Donato1,2, Domenico Mordà2,3
1Department of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy.
Molecular Biology Reports
|May 30, 2025
Summary
Researchers identified a novel PDCD10 gene rearrangement in liver cavernous malformation (CM) endothelial cells. This finding suggests a shared molecular basis between liver and brain cavernous lesions, advancing understanding of vascular malformations.
Area of Science:
- Vascular biology
- Genetics
- Pathogenesis of vascular malformations
Background:
- Liver cavernous malformation (CM) involves enlarged, tortuous vessels with disorganized endothelial cell junctions.
- Cerebral cavernous malformation (CCM) shares vascular characteristics and is linked to mutations in KRIT1, CCM2, and PDCD10.
- Co-occurrence of brain and extra-neurological lesions suggests potential common underlying mechanisms.
Purpose of the Study:
- To investigate the potential common molecular basis between liver and brain cavernous lesions.
- To identify genetic factors contributing to liver cavernous malformations.
Main Methods:
- Genotyping of KRIT1, CCM2, and PDCD10 genes in endothelial cells (ECs) from liver CM.
- Comparison of DNA from CM ECs with control liver ECs.
- TOPO-TA Cloning Sequencing to characterize genetic rearrangements.
Main Results:
- Several germline variants linked to CCM development were identified.
- A novel PDCD10 rearrangement, der(7)t(3;7)(q26.1;p12.1), was uniquely detected in liver CM ECs.
- This translocation affects the PDCD10 FAT-homology domain, crucial for CCM complex formation.
Conclusions:
- The identified PDCD10 somatic mutation suggests a common pathogenesis for liver and brain cavernous lesions.
- This research enhances the understanding of liver vascular malformation pathogenesis.
- The study reports, for the first time, the role of PDCD10 in extra-neurological cavernous lesions.
