Pathology, Kuwait Cancer Control Center, Shuwaikh, Al Asimah, Kuwait.
Department of Histopathology, Brighton and Sussex University Hospitals NHS Trust, Brighton, UK
J Clin Pathol. 2020 Sep;73(9):527-530. doi: 10.1136/jclinpath-2020-206859. Epub 2020 Jul 22.
The genes belong to a family of transcription factors, the Krüppel-like zinc finger proteins. The GLIS proteins function primarily as activators of transcription (GLIS 1 and 3), while GLIS 2 functions as a repressor. Collectively, the GLIS proteins are involved in a variety of diseases in several organs ranging from Alzheimer's disease, facial dysmorphism, neonatal diabetes mellitus, breast and colon cancers and leukaemia. In particular, loss-of-function mutations in are responsible for an autosomal recessive cystic kidney disease called nephronophthisis, which is characterised by tubular atrophy, interstitial fibrosis and corticomedullary cysts.Of diagnostic value in current practice are the presence of and fusions with in almost 100% of hyalinising trabecular tumours of the thyroid gland. This enables its separation from papillary thyroid cancer.
这些基因属于转录因子家族的 Krüppel 样锌指蛋白。GLIS 蛋白主要作为转录激活物(GLIS1 和 3)发挥作用,而 GLIS2 则作为抑制物发挥作用。GLIS 蛋白共同参与了多种器官的疾病,从阿尔茨海默病、面部畸形、新生儿糖尿病、乳腺癌和结肠癌以及白血病等。特别是, 基因的功能丧失突变导致一种常染色体隐性遗传性囊性肾病,称为肾单位肾病变,其特征为管状萎缩、间质纤维化和皮质髓质囊肿。在目前的实践中具有诊断价值的是 基因的存在,以及其与 基因融合的存在,这种融合几乎存在于 100%的甲状腺玻璃样小梁肿瘤中。这使其能够与甲状腺乳头状癌相区分。