{"title":"新一代测序在子宫内膜癌分子分类中优于前瞻性分子风险分类器（Proactive Molecular Risk Classifier for endomecancer, ProMisE）。","authors":"Takuma Yoshimura, Kohei Nakamura, Tatsuyuki Chiyoda, Reika Takamatsu, Ryutaro Kawano, Eriko Aimono, Miho Kawaida, Kensuke Sakai, Yohei Masugi, Hiroshi Nishihara, Wataru Yamagami","doi":"10.1038/s44276-025-00145-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>We aimed to compare the values of next-generation sequencing (NGS) and Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in redefining the molecular classification of endometrial cancer (EC).</p><p><strong>Methods: </strong>We investigated the relationship between clinical outcomes and molecular subtypes of POLE, microsatellite instability-high (MSI-H), copy number low (CN-L), and copy number high (CN-H) classified by cancer gene panel testing for 145 cancer-related genes, as well as the immunohistochemical status of p53 and mismatch repair genes, in 200 cases of EC.</p><p><strong>Results: </strong>The NGS-based classification identified CN-L subtype as the most prevalent (104/200, 52.0%), followed by MSI-H (38/200, 19.0%), POLE (33/200, 16.5%), and CN-H (25/200, 12.5%). Overall survival differed significantly for the four subtypes based on the NGS (p = 0.006) but not on the ProMisE (p = 0.117) classification. Additional mutations were identified for some POLE subtypes beyond the known hotspots, with 18.2% (6 of 33) showing concurrent MSI-H. Immunohistochemistry showed a p53 wild-type pattern for 12 (48%) CN-H cases, and there was no significant difference in prognosis depending on the p53 status in the CN-H subtype.</p><p><strong>Conclusions: </strong>NGS surpassed ProMisE in EC molecular classification, offering precise stratification and prognostication. Our NGS platform has the potential to contribute to personalized treatment in EC.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"37"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092810/pdf/","citationCount":"0","resultStr":"{\"title\":\"Next-generation sequencing outperforms Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in endometrial cancer molecular classification.\",\"authors\":\"Takuma Yoshimura, Kohei Nakamura, Tatsuyuki Chiyoda, Reika Takamatsu, Ryutaro Kawano, Eriko Aimono, Miho Kawaida, Kensuke Sakai, Yohei Masugi, Hiroshi Nishihara, Wataru Yamagami\",\"doi\":\"10.1038/s44276-025-00145-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>We aimed to compare the values of next-generation sequencing (NGS) and Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in redefining the molecular classification of endometrial cancer (EC).</p><p><strong>Methods: </strong>We investigated the relationship between clinical outcomes and molecular subtypes of POLE, microsatellite instability-high (MSI-H), copy number low (CN-L), and copy number high (CN-H) classified by cancer gene panel testing for 145 cancer-related genes, as well as the immunohistochemical status of p53 and mismatch repair genes, in 200 cases of EC.</p><p><strong>Results: </strong>The NGS-based classification identified CN-L subtype as the most prevalent (104/200, 52.0%), followed by MSI-H (38/200, 19.0%), POLE (33/200, 16.5%), and CN-H (25/200, 12.5%). Overall survival differed significantly for the four subtypes based on the NGS (p = 0.006) but not on the ProMisE (p = 0.117) classification. Additional mutations were identified for some POLE subtypes beyond the known hotspots, with 18.2% (6 of 33) showing concurrent MSI-H. Immunohistochemistry showed a p53 wild-type pattern for 12 (48%) CN-H cases, and there was no significant difference in prognosis depending on the p53 status in the CN-H subtype.</p><p><strong>Conclusions: </strong>NGS surpassed ProMisE in EC molecular classification, offering precise stratification and prognostication. Our NGS platform has the potential to contribute to personalized treatment in EC.</p>\",\"PeriodicalId\":519964,\"journal\":{\"name\":\"BJC reports\",\"volume\":\"3 1\",\"pages\":\"37\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-05-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092810/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BJC reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1038/s44276-025-00145-2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BJC reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1038/s44276-025-00145-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Next-generation sequencing outperforms Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in endometrial cancer molecular classification.
Background: We aimed to compare the values of next-generation sequencing (NGS) and Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in redefining the molecular classification of endometrial cancer (EC).
Methods: We investigated the relationship between clinical outcomes and molecular subtypes of POLE, microsatellite instability-high (MSI-H), copy number low (CN-L), and copy number high (CN-H) classified by cancer gene panel testing for 145 cancer-related genes, as well as the immunohistochemical status of p53 and mismatch repair genes, in 200 cases of EC.
Results: The NGS-based classification identified CN-L subtype as the most prevalent (104/200, 52.0%), followed by MSI-H (38/200, 19.0%), POLE (33/200, 16.5%), and CN-H (25/200, 12.5%). Overall survival differed significantly for the four subtypes based on the NGS (p = 0.006) but not on the ProMisE (p = 0.117) classification. Additional mutations were identified for some POLE subtypes beyond the known hotspots, with 18.2% (6 of 33) showing concurrent MSI-H. Immunohistochemistry showed a p53 wild-type pattern for 12 (48%) CN-H cases, and there was no significant difference in prognosis depending on the p53 status in the CN-H subtype.
Conclusions: NGS surpassed ProMisE in EC molecular classification, offering precise stratification and prognostication. Our NGS platform has the potential to contribute to personalized treatment in EC.
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