Evidence map›Paper›PMID 40445461›Full record

ArticleMolecular biology reports2025

First report of PDCD10 somatic mutation in liver cavernous malformation.

Simona Alibrandi, Luigi Donato, Domenico Mordà, Giuseppe Navarra, Agata Tonante, Angela D'Ascola, Federica Aliquò, Concetta Scimone, Antonina Sidoti, Rosalia D'Angelo

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Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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5 · Who and what money

Authors and funding

10 authors.

Simona AlibrandiDepartment of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy.
Luigi DonatoDepartment of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy.
Domenico MordàDepartment of Biomolecular Strategies, Genetics, Cutting-edge Therapies, I.E.ME.S.T, via Michele Miraglia 20, 90139, Palermo, Italy.
Giuseppe NavarraDepartment of Human and Pediatric Pathology 'Gaetano Barresi', via Consolare Valeria 1, 98125, Messina, Italy.
Agata TonanteDepartment of Human and Pediatric Pathology 'Gaetano Barresi', via Consolare Valeria 1, 98125, Messina, Italy.
Angela D'AscolaDepartment of Clinical and Experimental Medicine, via Consolare Valeria 1, 98125, Messina, Italy.
Federica AliquòDepartment of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy.
Concetta ScimoneDepartment of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy. cscimone@unime.it.ORCID http://orcid.org/0000-0002-4824-1693
Antonina SidotiDepartment of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy.
Rosalia D'AngeloDepartment of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, via Consolare Valeria 1, 98125, Messina, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLiver cavernous malformation (CM) is a slow-flow venous malformation in which involved vessels appear tortuous and enlarged, often surrounded by a dense collagenous matrix. Endothelial cells (ECs) of affected vessels show disorganized junctions. Diagnosis usually occurs by computed tomography. Cavernous vessels are also observed in cerebral cavernous malformation (CCM), a disease affecting brain vasculature and occurring following mutations in KRIT1, CCM2 and PDCD10. Coexistence of brain and extra-neurological lesions has been reported. In this study, for the first time, we describe the possible common molecular basis between liver and brain cavernous lesions. METHODS AND

resultsGenotyping of the three CCM genes was performed on DNA purified from CM ECs. Comparison with DNA purified from control liver ECs allowed to identify several germline variants linked to CCM development. However, a novel PDCD10 rearrangement was uniquely detected in CM ECs. By TOPO-TA Cloning Sequencing, this rearrangement was characterized as an unbalanced translocation, der(7)t(3;7)(q26.1;p12.1). The translocation spans the FAT-homology domain of the PDCD10 protein, crucial for CCM2 binding and the formation of the CCM signalling complex.

conclusionsIdentification of the PDCD10 somatic mutation suggests a possible common pathogenesis for liver and brain cavernous lesions and allows to increase knowledge on the pathogenesis of liver vascular malformation. Further, for the first time the role of PDCD10 in extra-neurological cavernous lesions was reported.

Indexed as

Apoptosis Regulatory ProteinsLiver NeoplasmsMembrane ProteinsMutationProto-Oncogene ProteinsAdultCarrier ProteinsEndothelial CellsFemaleHemangioma, Cavernous, Central Nervous SystemHumansKRIT1 ProteinLiverMaleApoptosis Regulatory ProteinsCarrier ProteinsCCM2 protein, humanKRIT1 ProteinMembrane ProteinsPDCD10 protein, humanProto-Oncogene ProteinsCase reportCCM genesEndothelial cellsGenomic rearrangementsLiver cavernous malformation

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PMID40445461

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