{"title":"不同技术在胶质瘤中CDKN2A状态的比较：p16作为替代标记物的缺失。","authors":"Arnault Tauziède-Espariat, Audrey Rousseau, Laetitia Basset, Raphaël Saffroy, Ana Cavillon, Amélie Lusque, Lauren Hasty, Alice Métais, Yvan Nicaise, Emmanuelle Uro-Coste, Pascale Varlet","doi":"10.1093/jnen/nlaf062","DOIUrl":null,"url":null,"abstract":"<p><p>The presence of a CDKN2A homozygous deletion (HD) plays an important role in the diagnostic approach for neuropathologists and the clinical prognostic stratification of several CNS tumors. CDKN2A is located on chromosome 9p21 next to CDKN2B and MTAP and encodes for the protein p16. Various molecular diagnostics are routinely used for assessing the deletion. In this context, we studied a cohort of 40 adult-type gliomas to analyze the concordance of three different molecular techniques, ie, FISH, NGS, and SNP array, for determining CDKN2A status and compared the results to p16 and MTAP immunostainings. The results showed that SNP array is the most reliable technique for the detection of CDKN2A HD and that p16 IHC constitutes a surrogate for the detection of biallelic inactivation of CDKN2A. p16 IHC was more accurate than MTAP IHC in detecting CDKN2A HD because a subset of CDKN2A HD gliomas did not present a deletion of the MTAP gene. IHC also allowed the detection of tumors with a hemizygous deletion of CDKN2A harboring a concomitant second molecular event on the remaining allele, ie, hypermethylation of CDKN2A promoter. We conclude that p16 immunostaining is an accurate biomarker for detecting CDKN2A HD.</p>","PeriodicalId":16682,"journal":{"name":"Journal of Neuropathology and Experimental Neurology","volume":" ","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A comparison of CDKN2A status in gliomas using different techniques: The loss of p16 as a surrogate marker.\",\"authors\":\"Arnault Tauziède-Espariat, Audrey Rousseau, Laetitia Basset, Raphaël Saffroy, Ana Cavillon, Amélie Lusque, Lauren Hasty, Alice Métais, Yvan Nicaise, Emmanuelle Uro-Coste, Pascale Varlet\",\"doi\":\"10.1093/jnen/nlaf062\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The presence of a CDKN2A homozygous deletion (HD) plays an important role in the diagnostic approach for neuropathologists and the clinical prognostic stratification of several CNS tumors. CDKN2A is located on chromosome 9p21 next to CDKN2B and MTAP and encodes for the protein p16. Various molecular diagnostics are routinely used for assessing the deletion. In this context, we studied a cohort of 40 adult-type gliomas to analyze the concordance of three different molecular techniques, ie, FISH, NGS, and SNP array, for determining CDKN2A status and compared the results to p16 and MTAP immunostainings. The results showed that SNP array is the most reliable technique for the detection of CDKN2A HD and that p16 IHC constitutes a surrogate for the detection of biallelic inactivation of CDKN2A. p16 IHC was more accurate than MTAP IHC in detecting CDKN2A HD because a subset of CDKN2A HD gliomas did not present a deletion of the MTAP gene. IHC also allowed the detection of tumors with a hemizygous deletion of CDKN2A harboring a concomitant second molecular event on the remaining allele, ie, hypermethylation of CDKN2A promoter. We conclude that p16 immunostaining is an accurate biomarker for detecting CDKN2A HD.</p>\",\"PeriodicalId\":16682,\"journal\":{\"name\":\"Journal of Neuropathology and Experimental Neurology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2025-05-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neuropathology and Experimental Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/jnen/nlaf062\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neuropathology and Experimental Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/jnen/nlaf062","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
A comparison of CDKN2A status in gliomas using different techniques: The loss of p16 as a surrogate marker.
The presence of a CDKN2A homozygous deletion (HD) plays an important role in the diagnostic approach for neuropathologists and the clinical prognostic stratification of several CNS tumors. CDKN2A is located on chromosome 9p21 next to CDKN2B and MTAP and encodes for the protein p16. Various molecular diagnostics are routinely used for assessing the deletion. In this context, we studied a cohort of 40 adult-type gliomas to analyze the concordance of three different molecular techniques, ie, FISH, NGS, and SNP array, for determining CDKN2A status and compared the results to p16 and MTAP immunostainings. The results showed that SNP array is the most reliable technique for the detection of CDKN2A HD and that p16 IHC constitutes a surrogate for the detection of biallelic inactivation of CDKN2A. p16 IHC was more accurate than MTAP IHC in detecting CDKN2A HD because a subset of CDKN2A HD gliomas did not present a deletion of the MTAP gene. IHC also allowed the detection of tumors with a hemizygous deletion of CDKN2A harboring a concomitant second molecular event on the remaining allele, ie, hypermethylation of CDKN2A promoter. We conclude that p16 immunostaining is an accurate biomarker for detecting CDKN2A HD.
期刊介绍：
Journal of Neuropathology & Experimental Neurology is the official journal of the American Association of Neuropathologists, Inc. (AANP). The journal publishes peer-reviewed studies on neuropathology and experimental neuroscience, book reviews, letters, and Association news, covering a broad spectrum of fields in basic neuroscience with an emphasis on human neurological diseases. It is written by and for neuropathologists, neurologists, neurosurgeons, pathologists, psychiatrists, and basic neuroscientists from around the world. Publication has been continuous since 1942.
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