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病例报告:使用特定靶向疗法的DNA下一代测序结果的显著影响 - 以及 。 (注:原文最后“- and.”表述不完整,可能影响准确理解。)

Case report: Dramatic impact of DNA next generation sequencing results using specific targeted therapies- and .

作者信息

Cullum Stav, Vang Hlu, Glover Michael, Alammarah Howra, Morton Heather, Pham Nancy, Rahman Mobeen, Khan Saad A

机构信息

Division of Oncology, Department of Medicine, Stanford Cancer Institute and Stanford University, Stanford, CA, United States.

Department of Otolaryngology/Head & Neck Surgery Divisions, Stanford University, Stanford, CA, United States.

出版信息

Front Oncol. 2024 Nov 26;14:1462930. doi: 10.3389/fonc.2024.1462930. eCollection 2024.

Abstract

In the era of targeted therapies, the clinical importance and utility of next-generation sequencing (NGS) has expanded significantly. Owing to the relative ease and financial feasibility of NGS, the use of personalized treatment strategies has the potential to revolutionize cancer care. In this case report, we explored the use of NGS in salivary gland carcinoma (SGC) and spindle cell neoplasm of the scalp. In our patient with SGC, NGS revealed a GPHN-ALK variant that allowed off-label treatment with alectinib, with a remarkable response in primary and metastatic foci. Similarly, the use of NGS in a cutaneous neoplasm in which no definitive diagnosis could be reached by pathology and which had progressed through standard of care treatment elucidated a PIK3CA mutation in which alpelisib was added and ultimately halted POD. Here, we discuss the use of NGS, future projections, and our recommendations.

摘要

在靶向治疗时代,下一代测序(NGS)的临床重要性和实用性显著扩大。由于NGS相对简便且经济可行,个性化治疗策略的应用有可能彻底改变癌症治疗方式。在本病例报告中,我们探讨了NGS在涎腺癌(SGC)和头皮梭形细胞瘤中的应用。在我们的SGC患者中,NGS检测到一种GPHN-ALK变异,使得可以使用阿来替尼进行超说明书用药治疗,在原发灶和转移灶均有显著反应。同样,在一例经病理无法明确诊断且经标准治疗方案病情进展的皮肤肿瘤中,NGS检测到一个PIK3CA突变,添加阿培利司后最终使病情停止进展。在此,我们讨论了NGS的应用、未来展望及我们的建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7da9/11628483/adfb51e9e1f1/fonc-14-1462930-g001.jpg

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