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髓母细胞瘤亚型谱及 MYC 扩增频率;沙特阿拉伯一家三级护理中心的经验。

Spectrum of medulloblastoma subtypes and frequency of MYC amplification; Experience from a tertiary care center in Saudi Arabia.

机构信息

Department of Pathology & Lab Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail:

出版信息

Neurosciences (Riyadh). 2020 Jul;25(3):218-221. doi: 10.17712/nsj.2020.3.20190124.

Abstract

OBJECTIVE

To clarify the spectrum of morphological and molecular subtypes of medulloblastoma (MBL), in addition to MYC and MYCN amplification statuses in a cohort of Saudi patients. The latter was correlated with patient outcome.

METHODS

We conducted a retrospective cohort study of 57 patients with MBL, diagnosed at the central laboratory of King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2006 and 2019. Molecular analysis for MYC and MYCN amplification was performed for the 19 most recently diagnosed patients.

RESULTS

Classic MBL was the most prevalent histologic subtype and MBL with extensive nodularity was the rarest. The non-WNT/non-SHH molecular subgroup was the most common while the WNT-activated was the least common. Among 19 patients analyzed, MYC and MYCN amplifications were discovered in 2 (10.5%) and 1 (5.3%) cases, respectively, using interphase fluorescence in-situ hybridization. The 2 MYC amplified cases belonged to the large cell/anaplastic subtype and had the worst outcomes.

CONCLUSION

The MYC amplification corresponded with poor prognosis, the large cell/anaplastic variant of MBL, and the non-WNT/non-SHH molecular subtype.

摘要

目的

在沙特患者队列中,阐明髓母细胞瘤(MBL)的形态学和分子亚型谱,以及 MYC 和 MYCN 扩增状态。后者与患者预后相关。

方法

我们对 2006 年至 2019 年间在沙特阿拉伯利雅得阿卜杜勒阿齐兹国王医疗城中央实验室诊断为 MBL 的 57 例患者进行了回顾性队列研究。对 19 例最近诊断的患者进行了 MYC 和 MYCN 扩增的分子分析。

结果

经典 MBL 是最常见的组织学亚型,广泛结节型 MBL 是最罕见的亚型。非 WNT/非 SHH 分子亚组最常见,而 WNT 激活型最不常见。在分析的 19 例患者中,2 例(10.5%)和 1 例(5.3%)分别通过间期荧光原位杂交发现 MYC 和 MYCN 扩增。2 例 MYC 扩增病例属于大细胞/间变性亚型,预后最差。

结论

MYC 扩增与预后不良、MBL 的大细胞/间变性变异体以及非 WNT/非 SHH 分子亚型相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/475a/8015469/465e9210d9b8/Neurosciences-25-218-g001.jpg

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