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Article

Mutational profile of atypical fibroxanthoma and pleomorphic dermal sarcoma further expands the spectrum of genomic alterations in rare cutaneous neoplasms.

Scientific reports - 3 May 2026

Caprini Elisabetta, Scaglione Giovanni Luca, Scarponi Claudia, Morelli Martina, Madonna Stefania, Marani Carla, Sebastiani Valeria, Scala Enrico, Albanesi Cristina, Rahimi Siavash

Abstract excerpt

Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare cutaneous mesenchymal tumours sharing clinical and histopathological features. Compared to AFX, PDS has an increased risk of local recurrence and metastasis. A precise diagnosis is critical to ensure proper clinical management and follow-up. AFX and PDS show a similar genetic background, but also a heterogeneous pattern of different...

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Identifiers

PMID: 42071062
DOI: 10.1038/s41598-026-50665-1
PMCID: PMC13332040

Genes

ATR
CDH1
CDKN2A
DDR2
KDR
NF2
NOTCH1
PDGFRB
TP53
TSC2

Provenance

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Research trail→

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Mutational profile of atypical fibroxanthoma and pleomorphic dermal sarcoma further expands the spectrum of genomic alterations in rare cutaneous neoplasms.PMID 42071062Read ↗

Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.Semantic proximity Read ↗

Molecular Characterization of Atypical Fibroxanthoma and Pleomorphic Dermal SarcomaSemantic proximity Read ↗

Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles.Semantic proximity Read ↗

Oncogene and therapeutic target analyses in atypical fibroxanthomas and pleomorphic dermal sarcomas.Semantic proximity Read ↗

Somatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma.Semantic proximity Read ↗

A genomic survey of sarcomas on sun-exposed skin reveals distinctive candidate drivers and potentially targetable mutations.Semantic proximity Read ↗

Genomic analysis of atypical fibroxanthoma.Semantic proximity Read ↗

Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotypeSemantic proximity Read ↗

Immunohistochemical expression of melanocytic and myofibroblastic markers and their molecular correlation in atypical fibroxanthomas and pleomorphic dermal sarcomas.Semantic proximity Read ↗

Integrative Analysis of Pleomorphic Dermal Sarcomas Reveals Fibroblastic Differentiation and Susceptibility to Immunotherapy.Semantic proximity Read ↗

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