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基于免疫组化的髓母细胞瘤分子亚组分类:单中心经验。

Molecular Subgrouping Based on Immunohistochemistry in Medulloblastoma: A Single-Center Experience.

机构信息

Hacettepe University, Faculty of Medicine, Department of Pathology, Ankara, Türkiye.

出版信息

Turk Neurosurg. 2024;34(6):999-1008. doi: 10.5137/1019-5149.JTN.45863-23.2.

Abstract

AIM

To investigate the efficacy of immunohistochemical methods to determine molecular subgroups and prognostic predictions of medulloblastomas (MBs).

MATERIAL AND METHODS

β-catenin, GAB1, YAP1, filamin A and p53 were immunohistochemically stained, and MYC and MYCN fluorescent in situ hybridization (FISH) procedures were applied to 218 cases in our series.

RESULTS

Based on the histomorphological characteristics of the cases, 67.9% were deemed classic MB; 15.6% as desmoplastic/ nodular medulloblastoma (DNMB); 12.8% as large cell/anaplastic (LC/A) MB; 3.7% as medulloblastoma with extensive nodularity (MBEN). Molecular characteristics revealed that 50.5% had non-WNT/non-SHH; 33.9% had SHH-activated and TP53-wildtype; 8.7% had WNT-activated; 6.9% had SHH-activated and TP53-mutant. According to the survival curves, LC/A MBs or non-WNT/ non-SHH tumors showed the worst prognosis, whereas DNMBs and WNT-activated tumors showed the best prognosis. Classic MBs or SHH-activated tumors showed a moderate course. MYCN amplification was found to act as an independent poor prognostic factor in the study.

CONCLUSION

The distribution of histological subtypes and molecular subgroups, amplification rates, and prognostic data obtained through immunohistochemical methods in our study were consistent with those reported in the literature. It was therefore hypothesized that the determination of molecular subgroups by immunohistochemical methods can be useful in daily diagnostic practice, especially in centers with limited access to molecular techniques.

摘要

目的

探讨免疫组织化学方法在确定髓母细胞瘤(MB)分子亚型和预后预测中的疗效。

材料与方法

对我们系列中的 218 例病例进行β-连环蛋白、GAB1、YAP1、细丝蛋白 A 和 p53 的免疫组织化学染色,以及 MYC 和 MYCN 荧光原位杂交(FISH)程序。

结果

根据病例的组织形态学特征,67.9%被认为是经典 MB;15.6%为促结缔组织增生/结节性 MB(DNMB);12.8%为大细胞/间变性(LC/A)MB;3.7%为广泛结节性 MB(MBEN)。分子特征显示 50.5%是非 WNT/非 SHH;33.9%为 SHH 激活和 TP53 野生型;8.7%为 WNT 激活;6.9%为 SHH 激活和 TP53 突变型。根据生存曲线,LC/A MB 或非 WNT/非 SHH 肿瘤预后最差,而 DNMB 和 WNT 激活肿瘤预后最好。经典 MB 或 SHH 激活肿瘤表现为中度病程。研究发现 MYCN 扩增是独立的不良预后因素。

结论

我们的研究通过免疫组织化学方法获得的组织学亚型和分子亚型、扩增率和预后数据的分布与文献报道一致。因此,推测免疫组织化学方法确定分子亚型可在日常诊断实践中具有重要作用,尤其是在分子技术有限的中心。

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