"Dynamic Survival Risk Prognostic Model and Genomic Landscape for Atypical Teratoid/Rhabdoid Tumors: A Population-Based, Real-World Study"

作者全名："Chen, Sihao; He, Yi; Liu, Jiao; Wu, Ruixin; Wang, Menglei; Jin, Aishun"

作者地址："[Chen, Sihao; He, Yi; Wu, Ruixin; Jin, Aishun] Chongqing Med Univ, Sch Basic Med Sci, Dept Immunol, Chongqing 400010, Peoples R China; [Chen, Sihao; He, Yi; Wu, Ruixin; Jin, Aishun] Chongqing Key Lab Tumor Immune Regulat & Immune In, Chongqing 400010, Peoples R China; [Liu, Jiao] Chongqing Med Univ, Childrens Hosp, Chongqing 400010, Peoples R China; [Wang, Menglei] Chongqing Med Univ, Dept Pediat, Women & Childrens Hosp, Chongqing 400010, Peoples R China; [Wang, Menglei] Chongqing Hlth Ctr Women & Children, Dept Pediat, Chongqing 400010, Peoples R China"

通信作者："Jin, AS (通讯作者)，Chongqing Med Univ, Sch Basic Med Sci, Dept Immunol, Chongqing 400010, Peoples R China.; Jin, AS (通讯作者)，Chongqing Key Lab Tumor Immune Regulat & Immune In, Chongqing 400010, Peoples R China.; Wang, ML (通讯作者)，Chongqing Med Univ, Dept Pediat, Women & Childrens Hosp, Chongqing 400010, Peoples R China.; Wang, ML (通讯作者)，Chongqing Hlth Ctr Women & Children, Dept Pediat, Chongqing 400010, Peoples R China."

来源：CANCERS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001182670600001

JCR分区：Q1

影响因子：4.5

年份：2024

卷号：16

期号：5

开始页：　

结束页：　

文献类型：Article

关键词：atypical teratoid/rhabdoid tumor; LASSO; Random Forest; SEER; COSMIC; risk prognostic model; Genomic Landscape

摘要："Simple Summary An atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, yet aggressive, pediatric central nervous system neoplasm. Our prognostic study included 316 Surveillance, Epidemiology, and End Results (SEER) repository participants and 27 external validation patients. The incidence of AT/RT consistently increased between 2000 and 2020. Age, SEER stage, tumor size, surgery, chemotherapy, and radiotherapy are closely related to the prognosis of AT/RT. Triple therapy resulted in discernibly enhanced OS and CSS. The most common mutations in AT/RT identified using the COSMIC database were SMARCB1, BRAF, SMARCA4, NF2, and NRAS. Our study identified the clinical determinants of prognosis in patients with AT/RT and mapped the genetic mutation landscape. The prediction model that we devised may offer a valuable tool to address existing clinical challenges. Additionally, analysis based on mutational genomics will facilitate the research regarding molecular-targeted drugs.Abstract Background: An atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon and aggressive pediatric central nervous system neoplasm. However, a universal clinical consensus or reliable prognostic evaluation system for this malignancy is lacking. Our study aimed to develop a risk model based on comprehensive clinical data to assist in clinical decision-making. Methods: We conducted a retrospective study by examining data from the Surveillance, Epidemiology, and End Results (SEER) repository, spanning 2000 to 2019. The external validation cohort was sourced from the Children's Hospital Affiliated to Chongqing Medical University, China. To discern independent factors affecting overall survival (OS) and cancer-specific survival (CSS), we applied Least Absolute Shrinkage and Selection Operator (LASSO) and Random Forest (RF) regression analyses. Based on these factors, we structured nomogram survival predictions and initiated a dynamic online risk-evaluation system. To contrast survival outcomes among diverse treatments, we used propensity score matching (PSM) methodology. Molecular data with the most common mutations in AT/RT were extracted from the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Results: The annual incidence of AT/RT showed an increasing trend (APC, 2.86%; 95% CI:0.75-5.01). Our prognostic study included 316 SEER database participants and 27 external validation patients. The entire group had a median OS of 18 months (range 11.5 to 24 months) and median CSS of 21 months (range 11.7 to 29.2). Evaluations involving C-statistics, DCA, and ROC analysis underscored the distinctive capabilities of our prediction model. An analysis via PSM highlighted that individuals undergoing triple therapy (integrating surgery, radiotherapy, and chemotherapy) had discernibly enhanced OS and CSS. The most common mutations of AT/RT identified in the COSMIC database were SMARCB1, BRAF, SMARCA4, NF2, and NRAS. Conclusions: In this study, we devised a predictive model that effectively gauges the prognosis of AT/RT and briefly analyzed its genomic features, which might offer a valuable tool to address existing clinical challenges."

基金机构：Chongqing Medical University Professor Scientific Research Start-up Fund

基金资助正文：We are immensely grateful to all investigators involved in this study.