Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation

BackgroundHigh-grade colorectal neuroendocrine carcinoma (HCNEC) is a rare but aggressive subset of neuroendocrine tumors. This study was designed to construct a risk model based on comprehensive clinical and mutational genomics data to facilitate clinical decision making.MethodsA retrospective anal...

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Main Authors: Ruixin Wu, Sihao Chen, Yi He, Ya Li, Song Mu, Aishun Jin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Oncology
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Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2025.1509170/full
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author Ruixin Wu
Ruixin Wu
Sihao Chen
Sihao Chen
Yi He
Yi He
Ya Li
Song Mu
Aishun Jin
Aishun Jin
author_facet Ruixin Wu
Ruixin Wu
Sihao Chen
Sihao Chen
Yi He
Yi He
Ya Li
Song Mu
Aishun Jin
Aishun Jin
author_sort Ruixin Wu
collection DOAJ
description BackgroundHigh-grade colorectal neuroendocrine carcinoma (HCNEC) is a rare but aggressive subset of neuroendocrine tumors. This study was designed to construct a risk model based on comprehensive clinical and mutational genomics data to facilitate clinical decision making.MethodsA retrospective analysis was conducted using data from the Surveillance, Epidemiology, and End Results (SEER) database, spanning 2000 to 2019. The external validation cohort was sourced from two tertiary hospitals in Southwest China. Independent factors influencing both overall survival (OS) and cancer-specific survival (CSS) were identified using LASSO, Random Forest, and XGBoost regression techniques. Molecular data with the most common mutations in CNEC were extracted from the Catalogue of Somatic Mutations in Cancer (COSMIC) database.ResultsIn this prognostic analysis, the data from 714 participants with HCNEC were evaluated. The median OS for the cohort was 10 months, whereas CSS was 11 months. Six variables (M stage, LODDS, Nodes positive, Surgery, Radiotherapy, and Chemotherapy) were screened as key prognostic indicators. The machine learning model showed reliable performance across multiple evaluation dimensions. The most common mutations of CNEC identified in the COSMIC database were TP53, KRAS, and APC.ConclusionsIn this study, a refined machine learning predictive model was developed to assess the prognosis of HCNEC accurately and we briefly analyzed its genomic features, which might offer a valuable tool to address existing clinical challenges.
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publisher Frontiers Media S.A.
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spelling doaj-art-addd47d3bd21417db5a8d6f02498c0842025-01-29T05:21:18ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-01-011510.3389/fonc.2025.15091701509170Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validationRuixin Wu0Ruixin Wu1Sihao Chen2Sihao Chen3Yi He4Yi He5Ya Li6Song Mu7Aishun Jin8Aishun Jin9Department of Immunology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Tumor Immune Regulation and Immune Intervention, Chongqing, ChinaDepartment of Immunology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Tumor Immune Regulation and Immune Intervention, Chongqing, ChinaDepartment of Immunology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Tumor Immune Regulation and Immune Intervention, Chongqing, ChinaDepartment of Gastrointestinal Surgery, the First Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaDepartment of Colorectal Surgery, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, ChinaDepartment of Immunology, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Tumor Immune Regulation and Immune Intervention, Chongqing, ChinaBackgroundHigh-grade colorectal neuroendocrine carcinoma (HCNEC) is a rare but aggressive subset of neuroendocrine tumors. This study was designed to construct a risk model based on comprehensive clinical and mutational genomics data to facilitate clinical decision making.MethodsA retrospective analysis was conducted using data from the Surveillance, Epidemiology, and End Results (SEER) database, spanning 2000 to 2019. The external validation cohort was sourced from two tertiary hospitals in Southwest China. Independent factors influencing both overall survival (OS) and cancer-specific survival (CSS) were identified using LASSO, Random Forest, and XGBoost regression techniques. Molecular data with the most common mutations in CNEC were extracted from the Catalogue of Somatic Mutations in Cancer (COSMIC) database.ResultsIn this prognostic analysis, the data from 714 participants with HCNEC were evaluated. The median OS for the cohort was 10 months, whereas CSS was 11 months. Six variables (M stage, LODDS, Nodes positive, Surgery, Radiotherapy, and Chemotherapy) were screened as key prognostic indicators. The machine learning model showed reliable performance across multiple evaluation dimensions. The most common mutations of CNEC identified in the COSMIC database were TP53, KRAS, and APC.ConclusionsIn this study, a refined machine learning predictive model was developed to assess the prognosis of HCNEC accurately and we briefly analyzed its genomic features, which might offer a valuable tool to address existing clinical challenges.https://www.frontiersin.org/articles/10.3389/fonc.2025.1509170/fullhigh-grade colorectal neuroendocrine carcinoma (HCNEC)machine learningprognosisSEERCOSMICgenetic mutation landscape
spellingShingle Ruixin Wu
Ruixin Wu
Sihao Chen
Sihao Chen
Yi He
Yi He
Ya Li
Song Mu
Aishun Jin
Aishun Jin
Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation
Frontiers in Oncology
high-grade colorectal neuroendocrine carcinoma (HCNEC)
machine learning
prognosis
SEER
COSMIC
genetic mutation landscape
title Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation
title_full Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation
title_fullStr Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation
title_full_unstemmed Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation
title_short Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation
title_sort machine learning based predictive model and genetic mutation landscape for high grade colorectal neuroendocrine carcinoma a seer database analysis with external validation
topic high-grade colorectal neuroendocrine carcinoma (HCNEC)
machine learning
prognosis
SEER
COSMIC
genetic mutation landscape
url https://www.frontiersin.org/articles/10.3389/fonc.2025.1509170/full
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