Role of immunohistochemistry in the molecular classification of atypical teratoid/rhabdoid tumor.
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PURPOSE: Atypical teratoid/rhabdoid tumors (ATRTs) are rare, aggressive Central nervous system (CNS) tumors in young children with poor prognosis. Molecular subgrouping (ATRT-TYR, ATRT-SHH, ATRT-MYC) is crucial for understanding biology, guiding treatment, and predicting outcomes. This study assesses immunohistochemistry (IHC) as a surrogate for molecular subgrouping and is the second study to analyze histomorphological patterns across subgroups. METHODS: The study analyzed 39 histopathologically confirmed ATRT cases over 15 years. Clinical and radiological data were obtained from case records, and H&E and IHC slides were reviewed. IHC markers-SOX-11 for ATRT-SHH, C-MYC for ATRT-MYC, and tyrosinase for ATRT-TYR-were used for molecular subgrouping. Subgrouping results were correlated with clinical, pathological, and survival data available in the literature. RESULTS: The most common subgroup was ATRT-SHH (41%), followed by ATRT-MYC (33%) and ATRT-TYR (23%). ATRT-SHH predominantly occurred in children ≤ 3 years and showed diverse cell morphology. ATRT-MYC had the widest age range, including adults, and a higher supratentorial prevalence. ATRT-TYR was common in infants and predominantly infratentorial. Rhabdoid cells were the most common cell type, varying across subgroups. Survival analysis (on a limited follow-up cohort of n = 11) suggested ATRT-MYC may be the most aggressive subtype, although this finding is limited by sample size and heterogeneity of treatment. CONCLUSION: Immunohistochemistry (IHC) based classification of ATRT aligned with known molecular and clinicopathological patterns. These alignment with known patterns suggests that the IHC-based classification can be used in routine practice as a cost-effective alternative method to methylation profiling.