Lymphoid enhancer-binding factor 1 (LEF1): a reliable immunohistochemical predictive marker for WNT-activated medulloblastoma
摘要
To evaluate lymphoid enhancer-binding factor 1 (LEF1) as an immunohistochemical marker for WNT-activated medulloblastoma (WNT-MB).
Materials and methodsMedulloblastomas (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.
ResultsA 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.
ConclusionDiffuse LEF1 immunostaining is a reliable and faster method for identifying WNT-activated molecular group of MB.