Department of Pathology, University Health Network Laboratory Medicine Program, University of Toronto, Toronto, Ontario, Canada
J Clin Pathol. 2020 Apr;73(4):228-230. doi: 10.1136/jclinpath-2020-206431. Epub 2020 Jan 24.
The () gene was first discovered to be amplified in glioblastoma multiforme. It encodes for a zinc-finger transcription factor in the Kruppel family of proteins and is important in the sonic hedgehog signalling pathway. also plays a role in several other pathways and is important for proliferation, migration, invasion, growth and angioinvasion, and cancer stem cell self-renewal in a variety of malignancies. GLI-1 is amplified in several malignancies, including an epithelioid, pericytomatous soft tissue neoplasm that can exhibit malignant behaviour. More recently, fusions with other partner genes have been found in three rare tumours: a pericytomatous tumour with a t(7;12) translocation, where it partners with , and gastroblastoma and plexiform fibromyxoma, where the partner gene is , respectively.
该基因最初在多形性成胶质细胞瘤中被发现扩增。它编码 Kruppel 家族蛋白中的一个锌指转录因子，在 sonic hedgehog 信号通路中起重要作用。还在其他几个途径中发挥作用，对于增殖、迁移、侵袭、生长和血管侵袭以及多种恶性肿瘤中的癌症干细胞自我更新都很重要。在几种恶性肿瘤中扩增，包括上皮样、促结缔组织增生性软组织肿瘤，其可表现出恶性行为。最近，在三种罕见肿瘤中发现了与其他伙伴基因的融合：一种具有 t(7;12)易位的促结缔组织增生性肿瘤，其与伙伴基因融合；胃母细胞瘤和丛状纤维粘液瘤，其伙伴基因分别是。
