Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India.
Department of Research, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India.
J Clin Pathol. 2021 Jan;74(1):1-4. doi: 10.1136/jclinpath-2020-207013. Epub 2020 Sep 9.
The is a general transcription factor and its mutations have been reported to be recurrent in thymic epithelial tumours and are rare in other malignancies. Apart from thymic epithelial tumours, these mutations have also been reported in a subgroup of T cell lymphomas, angioimmunoblastic T cell lymphomas. Soft tissue angiofibroma has been reported to harbour - fusion, whereas partners with Retinoic acid receptor alpha in acute promyelocytic leukaemia as - has also been implicated in immune disorders and two neuropsychiatric genetic disorders, namely autism and Williams-Beuren syndrome. The various structural, biochemical and functional properties of suggest towards the oncogenic nature of this gene. Studies involving patients are presently few and the availability of biospecimens amenable to molecular diagnostic studies is limited. Future studies involving biospecimens and transformed cell lines shall provide a clear understanding of the mechanistic to eventually lead to targeted treatment.
该基因是一种通用转录因子，其突变已在胸腺瘤中反复报道，在其他恶性肿瘤中很少见。除胸腺瘤外，这些突变也已在 T 细胞淋巴瘤的亚组，血管免疫母细胞性 T 细胞淋巴瘤中报道。软组织血管纤维瘤已被报道含有-融合，而在急性早幼粒细胞白血病中与视黄酸受体α结合，在免疫紊乱和两种神经精神遗传疾病，即自闭症和威廉姆斯综合征中也涉及。该基因的各种结构、生化和功能特性表明其具有致癌性。目前涉及患者的研究很少，并且可用于分子诊断研究的生物样本有限。涉及生物样本和转化细胞系的未来研究将提供对机制的清晰理解，最终导致靶向治疗。
