Simonetta Buglioni, Davide Seminati, Rossella Bruno, Beatrice Casini, Valerio Gristina, Elena Guerini-Rocco, Calogero Lauricella, Caterina Marchiò, Maria Iole Natalicchio, Francesco Pepe, Gloria Pessina, Stefania Scarpino, Giovanni Tallini, Konstantinos Venetis, Umberto Malapelle, Fabio Pagni, Giancarlo Pruneri, Nicola Fusco
{"title":"第三部分-分析后阶段。","authors":"Simonetta Buglioni, Davide Seminati, Rossella Bruno, Beatrice Casini, Valerio Gristina, Elena Guerini-Rocco, Calogero Lauricella, Caterina Marchiò, Maria Iole Natalicchio, Francesco Pepe, Gloria Pessina, Stefania Scarpino, Giovanni Tallini, Konstantinos Venetis, Umberto Malapelle, Fabio Pagni, Giancarlo Pruneri, Nicola Fusco","doi":"10.32074/1591-951X-1217","DOIUrl":null,"url":null,"abstract":"<p><p>Precision oncology requires standardized and clinically meaningful reporting of molecular test results to support therapeutic decision-making. Next-generation sequencing (NGS), increasingly used in routine diagnostics, must be accompanied by clear, structured, and up-to-date interpretative reports. This document provides updated guidance for the anno-tation, interpretation, and reporting of variants detected through NGS, encompassing both small targeted panels and large-scale comprehensive genomic profiling (CGP) assays. Emphasis is placed on structured reporting, clinical applicability, and harmonization across institutions. The recommendations also address critical aspects of quality assurance, stan-dardization for both tissue and liquid biopsy samples, with the aim to streamline molecular report generation, improve multidisciplinary communication, and facilitate the integration of NGS into everyday oncology practice in Italy.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2(Suppl.1)","pages":"S36-S62"},"PeriodicalIF":2.9000,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Part III - Post-analytical phase.\",\"authors\":\"Simonetta Buglioni, Davide Seminati, Rossella Bruno, Beatrice Casini, Valerio Gristina, Elena Guerini-Rocco, Calogero Lauricella, Caterina Marchiò, Maria Iole Natalicchio, Francesco Pepe, Gloria Pessina, Stefania Scarpino, Giovanni Tallini, Konstantinos Venetis, Umberto Malapelle, Fabio Pagni, Giancarlo Pruneri, Nicola Fusco\",\"doi\":\"10.32074/1591-951X-1217\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Precision oncology requires standardized and clinically meaningful reporting of molecular test results to support therapeutic decision-making. Next-generation sequencing (NGS), increasingly used in routine diagnostics, must be accompanied by clear, structured, and up-to-date interpretative reports. This document provides updated guidance for the anno-tation, interpretation, and reporting of variants detected through NGS, encompassing both small targeted panels and large-scale comprehensive genomic profiling (CGP) assays. Emphasis is placed on structured reporting, clinical applicability, and harmonization across institutions. The recommendations also address critical aspects of quality assurance, stan-dardization for both tissue and liquid biopsy samples, with the aim to streamline molecular report generation, improve multidisciplinary communication, and facilitate the integration of NGS into everyday oncology practice in Italy.</p>\",\"PeriodicalId\":45893,\"journal\":{\"name\":\"PATHOLOGICA\",\"volume\":\"117 2(Suppl.1)\",\"pages\":\"S36-S62\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-05-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PATHOLOGICA\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32074/1591-951X-1217\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-1217","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
Precision oncology requires standardized and clinically meaningful reporting of molecular test results to support therapeutic decision-making. Next-generation sequencing (NGS), increasingly used in routine diagnostics, must be accompanied by clear, structured, and up-to-date interpretative reports. This document provides updated guidance for the anno-tation, interpretation, and reporting of variants detected through NGS, encompassing both small targeted panels and large-scale comprehensive genomic profiling (CGP) assays. Emphasis is placed on structured reporting, clinical applicability, and harmonization across institutions. The recommendations also address critical aspects of quality assurance, stan-dardization for both tissue and liquid biopsy samples, with the aim to streamline molecular report generation, improve multidisciplinary communication, and facilitate the integration of NGS into everyday oncology practice in Italy.