Jansen Floor A, Bakhuizen Jette, Kester Lennart, de Krijger Ronald R
Princess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS Utrecht, The Netherlands.
Department of Genetics, Division of Laboratories, Pharmacy and Biomedical Genetics, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Cancers (Basel). 2025 Sep 2;17(17):2885. doi: 10.3390/cancers17172885.
syndrome is a hereditary cancer predisposition syndrome, characterized by a large range of benign and malignant neoplasms. Patients with syndrome have a broad phenotype, with pleuropulmonary blastoma, Sertoli-Leydig cell tumor, cystic nephroma, cervical embryonal rhabdomyosarcoma, cystic lung lesions, and thyroid follicular nodular disease being the most prevalent manifestations. The syndrome is caused by loss-of-function germline variants in the gene, and -related tumors are characterized by second somatic hotspot variants in the RNase IIIb domain of . encodes an endoribonuclease, which is important for RNA interference. This review describes the molecular mechanism of function and the pathogenetic mechanisms of tumorigenesis. The purpose of this review is to describe the pathogenesis, genotype-phenotype correlation and tissue specificity of syndrome. We conclude that there is a lack of knowledge about the exact molecular mechanisms of function and more research is needed to determine the exact role of this altered protein in relation to pathogenesis.
[综合征名称]是一种遗传性癌症易感性综合征，其特征为存在多种良性和恶性肿瘤。患有[综合征名称]的患者具有广泛的表型，其中胸膜肺母细胞瘤、支持-间质细胞瘤、囊性肾瘤、宫颈胚胎性横纹肌肉瘤、肺部囊性病变和甲状腺滤泡结节性疾病是最常见的表现。该综合征由[基因名称]基因的功能丧失性种系变异引起，与[综合征名称]相关的肿瘤的特征是在[基因名称]的RNase IIIb结构域中存在第二个体细胞热点变异。[基因名称]编码一种核糖核酸内切酶，这对RNA干扰很重要。本综述描述了[基因名称]功能的分子机制以及肿瘤发生的致病机制。本综述的目的是描述[综合征名称]的发病机制、基因型-表型相关性和组织特异性。我们得出结论，目前对于[基因名称]功能的确切分子机制缺乏了解，需要更多研究来确定这种改变的蛋白质在发病机制中的确切作用。
