Oral oncology · 2025
Genomic evolution of a metastatic oral squamous cell carcinoma: a case report, molecular analysis, and review of the literature.
Клинический случайОбзорПисьмо в редакциюНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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История · было → стало
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Palatnik Benjamin, Kazadi David, Jethwa Ashok, Nelson Andrew, Fujioka Naomi
Аннотация
BACKGROUND: Metastasis to the peritoneum is a rare but aggressive manifestation of squamous cell carcinoma of the head and neck (SCCHN). The specific drivers of metastasis in SCCHN remain unclear. We describe a case of recurrent, metastatic SCCHN and explore the potential role of acquired genomic alterations on the disease course.
METHODS: Mutational profiling of serial tumor specimens was conducted. Identified mutations were compared to TCGA SCCHN data.
RESULTS: Tumor specimens showed the progressive accumulation of mutations in TP53, NOTCH1, APC, and SMAD4.
CONCLUSION: This case provides insight into potential metastatic drivers in SCCHN, particularly SMAD4 and the TGF-b pathway, which are integral in controlling epithelial cell proliferation and dedifferentiation.
METHODS: Mutational profiling of serial tumor specimens was conducted. Identified mutations were compared to TCGA SCCHN data.
RESULTS: Tumor specimens showed the progressive accumulation of mutations in TP53, NOTCH1, APC, and SMAD4.
CONCLUSION: This case provides insight into potential metastatic drivers in SCCHN, particularly SMAD4 and the TGF-b pathway, which are integral in controlling epithelial cell proliferation and dedifferentiation.