Carr Ann, Jackson Jennifer B, Coldren Chris, Chandra Pranil, Koohestani Faezeh, Shiller Michelle, Auber Robert
PathGroup, Nashville, TN, 37217, USA.
Labcorp, Baltimore, MD, 21224, USA.
NPJ Precis Oncol. 2025 May 21;9(1):149. doi: 10.1038/s41698-025-00942-5.
Comprehensive genomic profiling (CGP) via next-generation sequencing is standard clinical practice for advanced and metastatic cancers in the U.S. and can help identify clinically actionable alterations in patients who may benefit from targeted therapies. CGP can also complement clinicopathological findings and in certain cases, may lead to diagnostic recharacterization resulting in more precise therapeutic strategies. Here, we highlight examples where molecular findings resulted in tumor re-evaluation and subsequent recharacterization. Twenty-eight cases where CGP results were inconsistent with initial pathological diagnosis and clinical presentation were selected for secondary clinicopathological review to explore alternative diagnostic explanations more consistent with the genomic results. Genomic profiling identified clinically actionable and prognostic variants leading to more accurate therapeutic recommendations based on the updated diagnoses highlighting the value of CGP beyond biomarker detection for therapy selection and supporting its complementary use in diagnostic confirmation to unveil opportunities for precision medicine strategies.
在美国，通过下一代测序进行的综合基因组分析（CGP）是晚期和转移性癌症的标准临床实践，有助于识别可能从靶向治疗中获益的患者的临床可操作改变。CGP还可以补充临床病理结果，在某些情况下，可能导致诊断重新定性，从而产生更精确的治疗策略。在此，我们重点介绍分子检测结果导致肿瘤重新评估及随后重新定性的实例。选择28例CGP结果与初始病理诊断和临床表现不一致的病例进行二次临床病理复查，以探索与基因组结果更一致的替代诊断解释。基因组分析确定了临床可操作和预后变异，基于更新后的诊断提出了更准确的治疗建议，突出了CGP在生物标志物检测之外对治疗选择的价值，并支持其在诊断确认中的补充应用，以揭示精准医学策略的机会。
