Department of Pathology and Immunology, Washington University in St Louis, St Louis, MO.
Am J Surg Pathol. 2014 Apr;38(4):534-41. doi: 10.1097/PAS.0000000000000161.
Targeted next-generation sequencing (NGS) provides predictive and prognostic information in the routine care of patients with cancer. However, with increasing knowledge of the biological basis of cancer, NGS of the same gene sets can also provide diagnostic information in challenging cases, on the basis of identification of both known and novel variants, including single-nucleotide variants, insertions and deletions, copy number alterations, and translocations. Here, we present 3 clinical cases in which targeted NGS of hybrid-capture-enriched DNA from formalin-fixed, paraffin-embedded tumor samples provided unique and clinically important diagnostic and/or staging information in 3 different challenging clinical scenarios. In the first patient, NGS played a key role in both diagnosis and staging in a patient with multiple tumors of the same histologic type. The second case demonstrates the ability of NGS to clarify the tumor tissue type in a single mass involving multiple organs, and thereby guide appropriate chemotherapy. The third case illustrates that information regarding susceptibility to targeted therapeutics can also clarify the original histologic diagnosis.
靶向下一代测序（NGS）在癌症患者的常规护理中提供预测和预后信息。然而，随着对癌症生物学基础的认识不断增加，相同基因集的 NGS 也可以在具有挑战性的病例中提供诊断信息，其依据是识别已知和新的变体，包括单核苷酸变体、插入和缺失、拷贝数改变和易位。在这里，我们提出了 3 个临床病例，其中来自福尔马林固定、石蜡包埋肿瘤样本的杂交捕获富集 DNA 的靶向 NGS 在 3 种不同的具有挑战性的临床情况下提供了独特且具有临床重要性的诊断和/或分期信息。在第一个患者中，NGS 在具有相同组织学类型的多个肿瘤的诊断和分期中发挥了关键作用。第二个病例表明，NGS 能够阐明涉及多个器官的单个肿块中的肿瘤组织类型，从而指导适当的化疗。第三个病例表明，针对治疗药物敏感性的信息也可以阐明原始组织学诊断。
