DICER1综合征是一种罕见的遗传性疾病，在儿童期逐渐发展为恶性和非恶性疾病。该综合征的病因是核糖核酸内切酶 DICER 的功能障碍，该酶在 microRNA 的加工以及随后对癌基因和抑癌基因表达的控制中发挥着重要作用。营养不良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）和非内分泌结构（胸膜肺母细胞瘤、囊性肾瘤、松果体母细胞瘤）。 DICER1 基因体细胞突变的存在是营养不良发病机制的一个结果阶段，决定了肿瘤发生的进一步路径。目前，DICER1综合征的诊断极为罕见，这导致患者体内疾病成分检测较晚、肿瘤诊断较晚、缺乏家庭咨询。在疾病的早期阶段进行诊断，制定用于管理这些患者的筛查计划可以最大限度地降低发展为更恶性、更具侵袭性的疾病的风险。

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.