Xu Li-Qing, Wang Ying-Jin, Shen Sheng-Li, Wu Yao, Duan Hong-Zhou
Department of Neurosurgery, Peking University First Hospital, Beijing 100034, China.
World J Clin Cases. 2022 Aug 6;10(22):7968-7972. doi: 10.12998/wjcc.v10.i22.7968.
Patients diagnosed with non-small-cell lung cancer with activated epidermal growth factor receptor mutations are more likely to develop leptomeningeal (LM) metastasis than other types of lung cancers and have a poor prognosis. Early diagnosis and effective treatment of leptomeningeal carcinoma can improve the prognosis.
A 55-year-old female with a progressive headache and vomiting for one month was admitted to Peking University First Hospital. She was diagnosed with lung adenocarcinoma with osseous metastasis 10 months prior to admittance. epidermal growth factor receptor (EGFR) mutation was detected by genomic examination, so she was first treated with gefitinib for 10 months before acquiring resistance. Cell-free cerebrospinal fluid (CSF) circulating tumor DNA detection by next-generation sequencing was conducted and indicated the EGFR-Thr790Met mutation, while biopsy and cytology from the patient's CSF and the first enhanced cranial magnetic resonance imaging (MRI) showed no positive findings. A month later, the enhanced MRI showed linear leptomeningeal enhancement, and the cytology and biochemical examination in CSF remained negative. Therefore, osimertinib (80 mg/d) was initiated as a second-line treatment, resulting in a good response within a month.
This report suggests clinical benefit of osimertinib in LM patients with positive detection of the EGFR-Thr790Met mutation in CSF and proposes that the positive findings of CSF circulating tumor DNA as a liquid biopsy technology based on the detection of cancer-associated gene mutations may appear earlier than the imaging and CSF findings and may thus be helpful for therapy. Moreover, the routine screening of chest CT with the novel coronavirus may provide unexpected benefits.
与其他类型肺癌相比，被诊断为具有激活的表皮生长因子受体突变的非小细胞肺癌患者更易发生软脑膜（LM）转移，且预后较差。软脑膜癌的早期诊断和有效治疗可改善预后。
一名55岁女性因进行性头痛和呕吐1个月入住北京大学第一医院。她在入院前10个月被诊断为肺腺癌伴骨转移。通过基因检测发现表皮生长因子受体（EGFR）突变，因此在出现耐药之前，她首先接受了10个月的吉非替尼治疗。通过下一代测序对无细胞脑脊液（CSF）循环肿瘤DNA进行检测，结果显示存在EGFR-Thr790Met突变，而患者脑脊液的活检和细胞学检查以及首次增强头颅磁共振成像（MRI）均未发现阳性结果。1个月后，增强MRI显示软脑膜呈线状强化，脑脊液的细胞学和生化检查仍为阴性。因此，开始使用奥希替尼（80mg/d）作为二线治疗，1个月内疗效良好。
本报告提示奥希替尼对脑脊液中EGFR-Thr790Met突变检测呈阳性的LM患者具有临床益处，并提出基于癌症相关基因突变检测的脑脊液循环肿瘤DNA作为液体活检技术的阳性结果可能比影像学和脑脊液检查结果出现得更早，可能有助于治疗。此外，对新型冠状病毒进行胸部CT常规筛查可能会带来意外收获。
