DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIb domain. DICER1 encodes a member of the microRNA biogenesis machinery. The syndrome spectrum is highly pleiotropic and features a unique constellation of benign and malignant neoplastic and dysplastic lesions. Pleuropulmonary blastoma (PPB), the most common primary lung cancer in children, is the hallmark tumor of the syndrome. Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal hamartoma, in addition to other rare entities. Several central nervous system (CNS) manifestations have also been defined, including metastases of PPB to the cerebrum, pituitary blastoma, pineoblastoma, ciliary body medulloepithelioma, and most recently primary DICER1-associated CNS sarcomas and ETMR-like infantile cerebellar embryonal tumor. Macrocephaly is a recently reported non-neoplastic, haploinsufficient phenotype. In this manuscript, we review the CNS manifestations of DICER1 syndrome.

DICER1综合征是一种罕见的肿瘤易感综合征，其表现主要影响儿童和年轻人。该综合征通常是由杂合子种系功能丧失DICER1改变引起的，而DICER1改变伴随着另一个等位基因的发生，伴随着体细胞错义突变的发生，该错义突变发生在编码RNase IIIb结构域的序列中的几个突变热点之一。骰子1编码microRNA生物发生机制的成员。该综合征谱具有高度的多效性，并具有独特的良性和恶性肿瘤性和异常增生性病变的星座。胸膜肺母细胞瘤（PPB）是儿童中最常见的原发性肺癌，是该综合征的标志性肿瘤。其他表现包括卵巢Sertoli-Leydig细胞瘤，儿童期发生的囊性肾瘤，多结节性甲状腺肿，甲状腺癌，肾脏的变性间质肉瘤，胚胎横纹肌肉瘤和鼻软骨间质性错构瘤。还定义了几种中枢神经系统（CNS）表现，包括PPB转移至大脑，垂体母细胞瘤，皮母细胞瘤，睫状体上皮上皮瘤和最近的原发性DICER1相关的中枢神经系统肉瘤和ETMR样婴儿小脑胚胎肿瘤。巨头畸形是最近报道的非肿瘤性，单倍体不足的表型。在本文中，我们回顾了DICER1综合征的中枢神经系统表现。