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Abstract：
Here we report the combined cytological and molecular diagnosis of a lung mass. The cytology and extensive immunohistochemistry on an endobronchial ultrasound-guided fine needle aspiration biopsy were inconclusive. By genomic profiling of the cell block material, we identified a MET exon 14 skipping mutation that indicated a lung origin and made the patient eligible for the tyrosine kinase inhibitor, crizotinib. This case is a prime example of complementing adequate aspiration and cell block processing techniques with molecular testing. Such an approach would augment the usability of fine needle aspiration biopsy, both as a diagnostic modality and as the first line to find therapeutic targets in the era of precision medicine.
摘要：
在这里，我们报告了肺部肿块的细胞学和分子学诊断。支气管内超声引导下细针穿刺活检的细胞学和广泛的免疫组织化学尚无定论。通过对细胞块材料的基因组分析，我们确定了一个MET外显子14跳跃突变，表明肺起源，并使患者符合酪氨酸激酶抑制剂的条件，克唑替尼.这种情况是通过分子测试补充适当的抽吸和细胞块处理技术的主要示例。这种方法将增加细针穿刺活检的可用性，既是一种诊断方式，也是精准医学时代寻找治疗靶点的第一线。
