淋巴样增强子结合因子1（LEF1）：一种用于WNT激活型髓母细胞瘤的可靠免疫组化预测标志物。

Lymphoid enhancer-binding factor 1 (LEF1): a reliable immunohistochemical predictive marker for WNT-activated medulloblastoma.

作者信息

Ranade Manali, Epari Sridhar, Gurav Mamta, Sahay Ayushi, Shetty Prakash, Prasad Maya, Gupta Tejpal, Chinnaswamy Girish

机构信息

Department of Pathology (Including Molecular Pathology Division), Tata Memorial Hospital & ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India.

Department of Surgical Oncology (Neurosurgery Division), Tata Memorial Hospital & ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India.

出版信息

Childs Nerv Syst. 2025 Jun 17;41(1):213. doi: 10.1007/s00381-025-06872-8.

DOI:10.1007/s00381-025-06872-8

PMID:40528003

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12174236/

Abstract

AIM

To evaluate lymphoid enhancer-binding factor 1 (LEF1) as an immunohistochemical marker for WNT-activated medulloblastoma (WNT-MB).

MATERIALS AND METHODS

Medulloblastomas (MB) diagnosed between January 2022 and April 2024, that were molecularly grouped by gene expression profiling and in which LEF1 immunohistochemistry was available formed the study cohort.

RESULTS

A of total 151 cases, comprising 40 (26.49%) WNT-activated, 45 (29.80%) SHH-activated, and 66 (43.71%) non-WNT/non-SHH (group 3: 21, group 4: 34, and NOS, i.e. overlapping between group 3 and group 4: 11) formed the study cohort. Age- range was 1-41 years (median: 9 years; interquartile- range: 5-17 years), 118 (78.15%) patients were ≤ 18 years of age, and 33 (21.85%) patients had > 18 years age. LEF1 immunostaining was diffuse (≥ 50% tumour cells) in 32 cases, focal (1-49% tumour cells) in 11 cases, and negative in 108 cases. Diffuse LEF1 staining was observed only in WNT-MB. Focal LEF1 staining was observed in 20% (8/40) of WNT-MB and 6.67% (3/45) of SHH-activated MBs. All 66 non-WNT/non-SHH MB were negative for LEF1. Diffuse (> 50%) LEF1 immunostaining had 100% positive predictive value, 100% specificity and 80% sensitivity for detecting WNT-MB.

CONCLUSION

Diffuse LEF1 immunostaining is a reliable and faster method for identifying WNT-activated molecular group of MB.

摘要

目的

评估淋巴样增强子结合因子1（LEF1）作为WNT激活型髓母细胞瘤（WNT-MB）的免疫组化标志物。

材料与方法

研究队列包括2022年1月至2024年4月间诊断的髓母细胞瘤（MB），这些病例通过基因表达谱进行分子分组且有LEF1免疫组化结果。

结果

共有151例病例组成研究队列，其中40例（26.49%）为WNT激活型，45例（29.80%）为SHH激活型，66例（43.71%）为非WNT/非SHH型（3组：21例，4组：34例，NOS，即3组和4组之间重叠：11例）。年龄范围为1至41岁（中位数：9岁；四分位间距：5至17岁），118例（78.15%）患者年龄≤18岁，33例（21.85%）患者年龄>18岁。LEF1免疫染色在32例中呈弥漫性（≥50%肿瘤细胞），11例中呈局灶性（1 - 49%肿瘤细胞），108例中呈阴性。仅在WNT-MB中观察到弥漫性LEF1染色。在20%（8/40）的WNT-MB和6.67%（3/45）的SHH激活型MB中观察到局灶性LEF1染色。所有66例非WNT/非SHH型MB的LEF1均为阴性。弥漫性（>50%）LEF1免疫染色对检测WNT-MB具有100%的阳性预测值、100%的特异性和80%的敏感性。