DICER1-mutant malignant brain neoplasms are very rare tumors, and published data have relied on case reports or small case series. In this review, the authors aimed to systematically summarize the types and distribution patterns of DICER1 mutations, clinicopathological characteristics, and prognostic outcomes of these tumors.

The authors searched PubMed and Web of Science for relevant studies. They included studies if they provided individual patient data of primary malignant brain tumors carrying DICER1 mutations.

The authors found 16 studies consisting of 9 embryonal tumors with multilayered rosettes (ETMRs), 30 pineoblastomas, 52 primary intracranial sarcomas, and 27 pituitary blastomas. Pineoblastoma, ETMR, and pituitary blastoma were more likely to carry DICER1 germline mutations, while only a small subset of primary intracranial sarcomas harbored these mutations (p < 0.001). Nearly 80% of tumors with germline mutations also had another somatic mutation in DICER1. ETMR and primary intracranial sarcoma were associated with an increased risk for tumor progression and relapse compared with pituitary blastoma and pineoblastoma (p = 0.0025), but overall survival (OS) was not significantly different. Gross-total resection (GTR) and radiotherapy administration were associated with prolonged OS.

ETMR, pineoblastoma, primary intracranial sarcoma, and pituitary blastoma should be considered rare phenotypes of the DICER1 syndrome, and families should be counseled and screened for associated tumors. ETMR and primary intracranial sarcoma had a higher risk of relapse. GTR and radiotherapy appeared to improve the OS of patients with DICER1-mutant malignant intracranial tumors.

DICER1-突变恶性脑肿瘤是非常罕见的肿瘤，已发表的数据依赖于病例报告或小型病例系列。在这篇综述中，作者旨在系统地总结DICER1突变的类型和分布模式、临床病理学特征和这些肿瘤的预后结果。

作者在 PubMed 和 Web of Science 中搜索了相关研究。如果他们提供携带DICER1突变的原发性恶性脑肿瘤的个体患者数据，他们就会纳入研究。

作者找到了 16 项研究，其中包括 9 项具有多层玫瑰花结的胚胎性肿瘤 (ETMR)、30 项松果体母细胞瘤、52 项原发性颅内肉瘤和 27 项垂体母细胞瘤。松果体母细胞瘤、ETMR 和垂体母细胞瘤更有可能携带DICER1种系突变，而只有一小部分原发性颅内肉瘤携带这些突变 (p < 0.001)。近 80% 的种系突变肿瘤在DICER1 中也有另一个体细胞突变。与垂体母细胞瘤和松果体母细胞瘤相比，ETMR 和原发性颅内肉瘤与肿瘤进展和复发风险增加相关 (p = 0.0025)，但总生存期 (OS) 没有显着差异。总切除术 (GTR) 和放射治疗与延长的 OS 相关。

ETMR、松果体母细胞瘤、原发性颅内肉瘤和垂体母细胞瘤应被视为 DICER1 综合征的罕见表型，应向家属咨询并筛查相关肿瘤。ETMR 和原发性颅内肉瘤的复发风险较高。GTR 和放疗似乎可以改善DICER1突变恶性颅内肿瘤患者的 OS 。