Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation

GENES CHROMOSOMES & CANCER(2024)

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摘要
Childhood melanoma is a rare and biologically heterogeneous pediatric malignancy. The differential diagnosis of pediatric melanoma is usually broad, including a wide variety of spindle cell or epithelioid neoplasms. Different molecular alterations affecting the MAPK and PI3K/AKT/mTOR pathways, tumor suppressor genes, and telomerase reactivation have been implicated in melanoma tumorigenesis and progression. Here, we report a novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and an aggressive clinical course.
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关键词
ATF1,MED15,MED15::ATF1 fusion,pediatric melanoma,spitzoid,whole transcriptome sequencing
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