Columbia University Irving Medical Center, New York, New York, USA.
James. J. Peters Bronx VA Medical Center, Bronx, New York, USA.
Oncologist. 2020 Sep;25(9):733-737. doi: 10.1634/theoncologist.2019-0846. Epub 2020 Jun 13.
STK11 was first recognized as a tumor suppressor gene in the late 1990s based on linkage analysis of patients with Peutz-Jeghers syndrome. STK11 encodes LKB1, an intracellular serine-threonine kinase involved in cellular metabolism, cell polarization, regulation of apoptosis, and DNA damage response. Recurrent somatic loss-of-function mutations occur in multiple cancer types, most notably in 13% of lung adenocarcinomas. Recent reports indicate that KRAS-mutant non-small cell lung cancers harboring co-mutations in STK11 do not respond to PD-1 axis inhibitors. We present three patients with STK11-mutated tumors and discuss the proposed mechanisms by which germline and somatic alterations in STK11 promote carcinogenesis, potential approaches for therapeutic targeting, and the new data on resistance to immune checkpoint inhibitors. KEY POINTS: STK11 is a tumor suppressor gene, and loss-of-function mutations are oncogenic, due at least in part to loss of AMPK regulation of mTOR and HIF-1-α. Clinical trials are under way, offering hope to patients whose STK11-mutated tumors are refractory and/or have progressed on chemotherapeutic regimens. Whether gastrointestinal cancers with STK11 loss of function will show the same outcome and potential refractoriness to immune therapy that were reported for lung cancer is unknown. However, physicians managing such patients should consider the experience in lung cancer, particularly outside the context of a clinical trial. In the CheckMate-057 trial lung tumors harboring co-mutations in KRAS and STK11 had an inferior response to PD-1 axis inhibitors. Coupled with the observation that STK11-mutated tumors were found to have a cold immune microenvironment regardless of KRAS status, the conclusion could extend to KRAS wild-type tumors with STK11 mutation. Current data suggest that the use of PD-1 axis inhibitors may be ill advised in the presence of STK11 mutation.
STK11 最初于 20 世纪 90 年代末期被认为是一种肿瘤抑制基因,其依据是对 Peutz-Jeghers 综合征患者的连锁分析。STK11 编码 LKB1,一种参与细胞代谢、细胞极化、细胞凋亡调节和 DNA 损伤反应的细胞内丝氨酸-苏氨酸激酶。在多种癌症类型中,特别是在 13%的肺腺癌中,经常发生复发性体细胞失活功能突变。最近的报告表明,携带 STK11 共突变的 KRAS 突变型非小细胞肺癌对 PD-1 轴抑制剂没有反应。我们介绍了 3 例 STK11 突变肿瘤患者,并讨论了 STK11 种系和体细胞改变促进癌变的可能机制、潜在的治疗靶向方法以及对免疫检查点抑制剂耐药的新数据。
STK11 是一种肿瘤抑制基因,功能丧失突变是致癌的,至少部分原因是 AMPK 对 mTOR 和 HIF-1-α的调节丧失。正在进行临床试验,为 STK11 突变肿瘤对化疗方案耐药和/或进展的患者带来希望。胃肠道癌症中 STK11 功能丧失是否会出现与肺癌相同的结果和对免疫治疗的潜在耐药性尚不清楚。然而,管理此类患者的医生应考虑肺癌的经验,特别是在临床试验之外。在 CheckMate-057 试验中,KRAS 和 STK11 共突变的肺肿瘤对 PD-1 轴抑制剂的反应较差。再加上观察到 STK11 突变肿瘤无论 KRAS 状态如何都存在冷免疫微环境的结论,这一结论可能扩展到 KRAS 野生型肿瘤伴 STK11 突变。目前的数据表明,在存在 STK11 突变的情况下,使用 PD-1 轴抑制剂可能是不明智的。