Abstract：
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.
摘要：
儿童黑色素瘤是一种罕见且生物学异质性的儿科恶性肿瘤。小儿黑色素瘤的鉴别诊断通常很广泛，包括各种各样的梭形细胞或上皮样肿瘤。影响MAPK和PI3K/AKT/mTOR通路的不同分子改变,肿瘤抑制基因，和端粒酶的再激活与黑色素瘤的发生和发展有关。这里,我们报道了一种新型的MED15::ATF1融合在小儿黑色素瘤中的表现,该黑色素瘤具有类囊的特征和积极的临床过程.
