Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Surg Pathol Clin. 2023 Mar;16(1):107-118. doi: 10.1016/j.path.2022.09.010. Epub 2022 Dec 12.
Mutational inactivation of the DICER1 gene causes aberrant micro-RNA maturation, which in turn may have consequences for the posttranscriptional regulation of gene expression, thereby contributing to tumor formation in various organs. Germline DICER1 mutations cause DICER1 syndrome, a pleiotropic condition with an increased risk of various neoplastic conditions in the pleura, ovaries, thyroid, pituitary, pineal gland, and mesenchymal tissues. Somatic DICER1 mutations are also frequently observed in a wide variety of solid tumors, thereby highlighting the importance of this gene in tumor development. In this review, the importance of DICER1 inactivation in endocrine tumors is discussed.
DICER1 基因突变导致异常 microRNA 成熟，这反过来可能会影响基因表达的转录后调控，从而导致各种器官的肿瘤形成。DICER1 基因突变导致 DICER1 综合征，这是一种多系统疾病，胸膜、卵巢、甲状腺、垂体、松果体和间叶组织的多种肿瘤风险增加。体细胞 DICER1 突变也经常在各种实体瘤中观察到，这突出了该基因在肿瘤发生中的重要性。在这篇综述中，讨论了 DICER1 失活在内分泌肿瘤中的重要性。
