基于免疫组化的髓母细胞瘤分子分组:单中心经验

Berrin Babaoglu, Sahin Hanalioglu, Ali Varan, Kader Karlı Oguz, Burcak Bilginer, Anıl Dolgun, Figen Soylemezoglu
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引用次数: 0

摘要

目的:髓母细胞瘤(MBs)是儿童最常见的恶性脑肿瘤;根据2016年和2021年世界卫生组织的分类,可将其分为WNT激活型、SHH激活型和TP53野生型、SHH激活型和TP53突变型以及非WNT/非SHH分子亚组。然而,确定这些亚组的分子方法因价格昂贵而不易用于常规检测。材料与方法:对本系列的218例患者进行β-catenin、GAB1、YAP1、filamin A和p53免疫组化染色,并应用MYC和MYCN荧光原位杂交(FISH)程序:根据病例的组织形态学特征,67.9%的病例被认为是典型的MB;15.6%的病例被认为是去增生性/结节性髓母细胞瘤(DNMB);12.8%的病例被认为是大细胞/无弹性(LC/A)MB;3.7%的病例被认为是广泛结节性髓母细胞瘤(MBEN)。分子特征显示,50.5%为非WNT/非SHH型;33.9%为SHH激活型和TP53野生型;8.7%为WNT激活型;6.9%为SHH激活型和TP53突变型。根据生存曲线,LC/A MB或非WNT/非SHH肿瘤的预后最差,而DNMB和WNT激活肿瘤的预后最好。经典MBs或SHH激活型肿瘤的预后一般。研究发现,MYCN扩增是一个独立的不良预后因素:结论:在我们的研究中,组织学亚型和分子亚组的分布、扩增率以及通过免疫组化方法获得的预后数据与文献报道一致。因此,我们推测通过免疫组化方法确定分子亚组在日常诊断实践中是有用的,尤其是在分子技术有限的中心。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular Subgrouping Based on Immunohistochemistry in Medulloblastoma: a Single-Center Experience.

Aim: Medulloblastomas (MBs) are the most commonly observed malignant brain tumors affecting children; they can be classified into molecular subgroups based on the 2016 and 2021 WHO classifications, as WNT-activated, SHH-activated and TP53-wild type, SHH-activated and TP53-mutant, and non-WNT/non-SHH. However, the molecular methods to determine these subgroups are not easily accessible for routine testing as they are expensive. Here, we investigated the efficacy of immunohistochemical methods to determine molecular subgroups and prognostic predictions of MB.

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.

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