Institute of Pathology and Medical Genetics, University Hospital Basel, Basel, Switzerland.
Department of Medical Oncology, University Hospital of Lausanne (CHUV), Lausanne, Switzerland.
Leuk Lymphoma. 2020 Nov;61(11):2568-2583. doi: 10.1080/10428194.2020.1786560. Epub 2020 Jul 4.
Since 2016, a next-generation sequencing (NGS) panel targeting 68 genes frequently mutated in lymphoid malignancies is an accredited part of routine diagnostics at the Institute of Pathology in Basel, Switzerland. Here, we retrospectively evaluate the feasibility and utility of integrating this NGS platform into routine practice on 80 diagnostic cases of lymphoid proliferations. NGS analysis was useful in most instances, yielding a diagnostically, predictively and/or prognostically meaningful result. In 35 out of the 50 cases, in which conventional histopathological evaluation remained indecisive, molecular subtyping with the NGS panel was helpful to either confirm or support the favored diagnosis, enable a differential diagnosis, or seriously question a suspected diagnosis. A total of 61 actionable or potentially actionable mutations in 34 out of 80 cases that might have enabled patient selection for targeted therapies was detected. NGS panel analysis had implications for prognosis in all 15 cases interrogated for risk assessment.
自 2016 年以来,针对淋巴恶性肿瘤中常见突变的 68 个基因的下一代测序(NGS)面板已成为瑞士巴塞尔病理学研究所常规诊断的公认部分。在这里,我们回顾性评估了将这个 NGS 平台整合到 80 例淋巴增生性疾病的常规实践中的可行性和实用性。NGS 分析在大多数情况下都很有用,得出了具有诊断、预测和/或预后意义的结果。在 50 例常规组织病理学评估仍不确定的病例中,35 例通过 NGS 面板进行的分子亚型分析有助于确认或支持首选诊断,进行鉴别诊断,或严重质疑可疑诊断。总共在 80 例病例中的 34 例中检测到 61 个可能导致靶向治疗的可操作或潜在可操作的突变。NGS 面板分析对所有 15 例进行风险评估的病例的预后均有影响。