Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases
Jazyk angličtina Země Švýcarsko Médium electronic
Typ dokumentu časopisecké články
Grantová podpora
Cooperatio Medical Diagnostics
Charles University
PubMed
38542259
PubMed Central
PMC10970188
DOI
10.3390/ijms25063285
PII: ijms25063285
Knihovny.cz E-zdroje
- Klíčová slova
- DNA, next-generation sequencing, pancreas, undifferentiated carcinoma with osteoclast-like giant cells,
- MeSH
- duktální karcinom slinivky břišní * patologie MeSH
- lidé MeSH
- molekulární biologie MeSH
- mutace MeSH
- nádory slinivky břišní * genetika patologie MeSH
- obrovské buňky patologie MeSH
- osteoklasty patologie MeSH
- pankreas patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Undifferentiated carcinoma with osteoclast-like giant cells (UCOGC) of the pancreas is a rare malignancy regarded as a subvariant of pancreatic ductal carcinoma (PDAC) characterized by variable prognosis. UCOGC shows a strikingly similar spectrum of oncogenic DNA mutations to PDAC. In the current work, we analyzed the landscape of somatic mutations in a set of 13 UCOGC cases via next-generation sequencing (NGS). We detected a spectrum of pathogenic or likely pathogenic mutations similar to those observed in PDAC following previously published results (10 KRAS, 9 TP53, 4 CDKN2A, and 1 SMAD4, CIC, GNAS, APC, ATM, NF1, FBXW7, ATR, and FGFR3). Our results support the theory that UCOGC is a variant of PDAC, despite its unique morphology; however, a UCOGC-specific genomic signature as well as predictive markers remain mainly unknown. Programmed death ligand 1 (PD-L1) status remains an important predictive marker based on previous studies.
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