在一例婴儿纤维肉瘤样肿瘤的晚期肺转移中发现的新型双基因融合。
Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor.
作者信息
Schoedel Karen, Hegazy Shaymaa, Zilla Megan L, Chang Jason, Nacev Benjamin A
机构信息
Department of Pathology, University of Pittsburgh, UPMC Presbyterian C602, 200 Lothrop St., Pittsburgh, PA, 15213, USA.
Memorial Sloan Kettering Cancer Center, New York, NY, USA.
出版信息
Virchows Arch. 2025 May;486(5):1069-1072. doi: 10.1007/s00428-024-03882-w. Epub 2024 Jul 30.
Abstract
The list of potential gene fusions involving sarcomas, and particularly infantile fibrosarcoma-like tumors, continues to expand. The receptor tyrosine kinases are dysregulated in several tumor types, underscoring their roles in neoplasia. In this case presentation, we describe a pulmonary metastasis with two novel gene fusions (FKBP5::PRKCA and in-frame SEPT7::RAF1) occurring at least two decades after the primary tumor developed.
摘要
涉及肉瘤，尤其是婴儿纤维肉瘤样肿瘤的潜在基因融合列表在不断扩大。受体酪氨酸激酶在多种肿瘤类型中失调，突出了它们在肿瘤形成中的作用。在本病例报告中，我们描述了一例肺转移瘤，其出现了两种新的基因融合（FKBP5::PRKCA和框内SEPT7::RAF1），发生在原发肿瘤形成至少二十年后。
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