PDF(Pubmed)
Abstract：
DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations - multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non-endocrine formations - pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.
摘要：
DICER1综合征是一种罕见的遗传性疾病，在儿童时期逐渐发展为恶性和非恶性疾病。这种综合征的原因是核糖核酸内切酶DICER的功能，在microRNAs的加工中起着重要作用，随后调节癌基因和抑癌基因的表达。异常病变的临床表现非常不同，可能包括内分泌表现-多结节性甲状腺肿，分化型甲状腺癌,卵巢间质瘤,垂体母细胞瘤,和非内分泌形成-胸膜肺母细胞瘤，囊性肾瘤,松果体母细胞瘤.DICER1基因的体细胞突变的存在是异常病的发病机理的结果阶段，确定进一步的致癌路径。目前,DICER1综合征很少被诊断出来，这导致对患者疾病成分的晚期检测，肿瘤的晚期诊断，缺乏家庭咨询。在疾病的早期阶段诊断，为这些患者的管理而制定的筛查计划可以最大程度地减少发展为更恶性的风险，侵袭性形式的疾病。
