Donovan Laura E, Arnal Ashley V, Wang Shih-Hsiu, Odia Yazmin
Columbia University Medical School, New York, NY, USA.
Department of Pathology, Columbia University Medical Center/New York-Presbyterian Hospital, New York, NY, USA.
CNS Oncol. 2016 Oct;5(4):203-9. doi: 10.2217/cns-2016-0011. Epub 2016 Sep 12.
Pituitary adenomas are the commonest intracranial tumor, but metastases are rare (0.2% yearly incidence) and portend poor prognosis. CAPecitabine and TEMozolomide improved outcomes for neuroendocrine tumors. However, no chemotherapy is approved for refractory pituitary carcinomas. Next-generation sequencing revealed an actionable mTOR pathway STK11 mutation in a woman with adrenocorticotropic hormone-secreting pituitary carcinoma refractory to six resections, radiation and CAPecitabine and TEMozolomide. Given efficacy in preclinical pancreatic cancer models with STK11 mutations, she received radiation and everolimus leading to clinical improvement and stability on MRI and PET for >6 months. She ultimately expired from widely metastatic disease. Next-generation sequencing can identify actionable mutations in rare or treatment refractory tumors. Earlier targeted therapy may improve outcomes.
垂体腺瘤是最常见的颅内肿瘤，但转移瘤罕见（年发病率为0.2%），且预后不良。卡培他滨和替莫唑胺改善了神经内分泌肿瘤的治疗效果。然而，尚无化疗方案被批准用于难治性垂体癌。二代测序显示，一名促肾上腺皮质激素分泌型垂体癌女性患者存在可靶向治疗的mTOR通路STK11突变，该患者此前接受了6次手术、放疗以及卡培他滨和替莫唑胺治疗均无效。鉴于STK11突变在临床前胰腺癌模型中的疗效，她接受了放疗和依维莫司治疗，临床症状改善，MRI和PET检查显示病情稳定超过6个月。她最终因广泛转移而死亡。二代测序可识别罕见或难治性肿瘤中的可靶向治疗突变。早期靶向治疗可能改善预后。
