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Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
Cancer Genomics & Proteomics ( IF 2.6 ) Pub Date : 2021-4-25 , DOI: 10.21873/cgp.20264
Sivan Gershanov 1 , Helen Toledano 2, 3 , Nomi Pernicone 1 , Suzana Fichman 3, 4 , Shalom Michowiz 3, 5 , Albert Pinhasov 1 , Nitza Goldenberg-Cohen 6, 7, 8 , Tamar Listovsky 9, 10 , Mali Salmon-Divon 9, 10
Affiliation  

Germline mutations in PTCH1 or SUFU in the sonic hedgehog (SHH) pathway cause Gorlin's syndrome with increased risk of developing SHH-subgroup medulloblastoma. Gorlin's syndrome precludes the use of radiotherapy (a standard component of treatment) due to the development of multiple basal cell carcinomas. Also, current SHH inhibitors are ineffective against SUFU-mutated medulloblastoma, as they inhibit upstream genes. In this study, we aimed to detect differences in the expression of genes and microRNAs between SUFU- and PTCH1-mutated SHH medulloblastomas which may hint at new treatment directions.

中文翻译:

PTCH1 和 SUFU 突变的成神经管细胞瘤之间 RNA 和 microRNA 表达的差异。

声波刺猬 (SHH) 通路中 PTCH1 或 SUFU 的种系突变会导致 Gorlin 综合征,并增加发生 SHH 亚组成神经管细胞瘤的风险。由于多发性基底细胞癌的发展,Gorlin 综合征排除了放射治疗(治疗的标准组成部分)的使用。此外,目前的 SHH 抑制剂对 SUFU 突变的髓母细胞瘤无效,因为它们会抑制上游基因。在这项研究中,我们旨在检测 SUFU 和 PTCH1 突变的 SHH 髓母细胞瘤之间基因和 microRNA 表达的差异,这可能暗示新的治疗方向。
更新日期:2021-04-27
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