Department of Chemotherapy, Poznan University of Medical Sciences, Clinical Hospital of Lord Transfiguration, 61-848 Poznan, Poland.
Int J Mol Sci. 2021 Jan 8;22(2):593. doi: 10.3390/ijms22020593.
Lung cancer is one of the most common malignant neoplasms. As a result of the disease's progression, patients may develop metastases to the central nervous system. The prognosis in this location is unfavorable; untreated metastatic lesions may lead to death within one to two months. Existing therapies-neurosurgery and radiation therapy-do not improve the prognosis for every patient. The discovery of Epidermal Growth Factor Receptor (EGFR)-activating mutations and Anaplastic Lymphoma Kinase (ALK) rearrangements in patients with non-small cell lung adenocarcinoma has allowed for the introduction of small-molecule tyrosine kinase inhibitors to the treatment of advanced-stage patients. The Epidermal Growth Factor Receptor (EGFR) is a transmembrane protein with tyrosine kinase-dependent activity. EGFR is present in membranes of all epithelial cells. In physiological conditions, it plays an important role in the process of cell growth and proliferation. Binding the ligand to the EGFR causes its dimerization and the activation of the intracellular signaling cascade. Signal transduction involves the activation of MAPK, AKT, and JNK, resulting in DNA synthesis and cell proliferation. In cancer cells, binding the ligand to the EGFR also leads to its dimerization and transduction of the signal to the cell interior. It has been demonstrated that activating mutations in the gene for EGFR-exon19 (deletion), L858R point mutation in exon 21, and mutation in exon 20 results in cancer cell proliferation. Continuous stimulation of the receptor inhibits apoptosis, stimulates invasion, intensifies angiogenesis, and facilitates the formation of distant metastases. As a consequence, the cancer progresses. These activating gene mutations for the EGFR are present in 10-20% of lung adenocarcinomas. Approximately 3-7% of patients with lung adenocarcinoma have the echinoderm microtubule-associated protein-like 4 (EML4)/ALK fusion gene. The fusion of the two genes EML4 and ALK results in a fusion gene that activates the intracellular signaling pathway, stimulates the proliferation of tumor cells, and inhibits apoptosis. A new group of drugs-small-molecule tyrosine kinase inhibitors-has been developed; the first generation includes gefitinib and erlotinib and the ALK inhibitor crizotinib. These drugs reversibly block the EGFR by stopping the signal transmission to the cell. The second-generation tyrosine kinase inhibitor (TKI) afatinib or ALK inhibitor alectinib block the receptor irreversibly. Clinical trials with TKI in patients with non-small cell lung adenocarcinoma with central nervous system (CNS) metastases have shown prolonged, progression-free survival, a high percentage of objective responses, and improved quality of life. Resistance to treatment with this group of drugs emerging during TKI therapy is the basis for the detection of resistance mutations. The T790M mutation, present in exon 20 of the EGFR gene, is detected in patients treated with first- and second-generation TKI and is overcome by Osimertinib, a third-generation TKI. The I117N resistance mutation in patients with the ALK mutation treated with alectinib is overcome by ceritinib. In this way, sequential therapy ensures the continuity of treatment. In patients with CNS metastases, attempts are made to simultaneously administer radiation therapy and tyrosine kinase inhibitors. Patients with lung adenocarcinoma with CNS metastases, without activating EGFR mutation and without ALK rearrangement, benefit from immunotherapy. This therapeutic option blocks the PD-1 receptor on the surface of T or B lymphocytes or PD-L1 located on cancer cells with an applicable antibody. Based on clinical trials, pembrolizumab and all antibodies are included in the treatment of non-small cell lung carcinoma with CNS metastases.
肺癌是最常见的恶性肿瘤之一。由于疾病的进展,患者可能会发展为中枢神经系统转移。在这个部位的预后是不利的;未经治疗的转移性病变可能在一到两个月内导致死亡。现有的治疗方法——神经外科手术和放射治疗——并不能改善每个患者的预后。非小细胞肺腺癌患者中表皮生长因子受体(EGFR)激活突变和间变性淋巴瘤激酶(ALK)重排的发现,使得小分子酪氨酸激酶抑制剂能够用于治疗晚期患者。表皮生长因子受体(EGFR)是一种具有酪氨酸激酶依赖性活性的跨膜蛋白。EGFR 存在于所有上皮细胞的膜上。在生理条件下,它在细胞生长和增殖过程中发挥重要作用。配体与 EGFR 的结合导致其二聚化和细胞内信号级联的激活。信号转导涉及 MAPK、AKT 和 JNK 的激活,导致 DNA 合成和细胞增殖。在癌细胞中,配体与 EGFR 的结合也导致其二聚化和信号向细胞内部的转导。已经证明,EGFR 基因中的激活突变——外显子 19(缺失)、外显子 21 的 L858R 点突变和外显子 20 的突变——导致癌细胞增殖。受体的持续刺激抑制细胞凋亡,刺激侵袭,增强血管生成,并促进远处转移的形成。因此,癌症进展了。这些激活的 EGFR 基因突变存在于 10-20%的肺腺癌中。大约 3-7%的肺腺癌患者有棘皮动物微管相关蛋白样 4(EML4)/ALK 融合基因。两个基因 EML4 和 ALK 的融合导致激活细胞内信号通路的融合基因,刺激肿瘤细胞增殖并抑制细胞凋亡。一组新的药物——小分子酪氨酸激酶抑制剂——已经被开发出来;第一代包括吉非替尼和厄洛替尼以及 ALK 抑制剂克唑替尼。这些药物通过阻止信号向细胞传递来可逆地阻断 EGFR。第二代酪氨酸激酶抑制剂(TKI)阿法替尼或 ALK 抑制剂阿来替尼不可逆地阻断受体。非小细胞肺腺癌伴中枢神经系统(CNS)转移患者的 TKI 临床试验显示,无进展生存期延长、客观反应率高、生活质量改善。在 TKI 治疗期间出现的对该类药物的耐药性是检测耐药突变的基础。在接受第一代和第二代 TKI 治疗的患者中检测到存在于 EGFR 基因外显子 20 中的 T790M 突变,第三代 TKI 奥希替尼克服了该突变。接受阿来替尼治疗的 ALK 突变患者中的 I117N 耐药突变被塞瑞替尼克服。通过这种方式,序贯治疗确保了治疗的连续性。对于有中枢神经系统转移的患者,尝试同时给予放射治疗和酪氨酸激酶抑制剂。没有激活的 EGFR 突变和没有 ALK 重排的肺腺癌伴中枢神经系统转移的患者受益于免疫治疗。这种治疗选择通过适用的抗体阻断 T 或 B 淋巴细胞表面的 PD-1 受体或位于癌细胞上的 PD-L1。基于临床试验,派姆单抗和所有抗体都被纳入伴有中枢神经系统转移的非小细胞肺癌的治疗中。