PDF(Pubmed)
Abstract：
Primary meningeal melanomatosis is an extremely rare tumor with very few documented responses to treatment. A 3-year-old male with a complex past medical history, including prematurity and shunted hydrocephalus, was diagnosed with primary meningeal melanomatosis with peritoneal implants. Molecular testing revealed an NRAS Q61R mutation. The patient received proton craniospinal radiation followed by immunotherapy with nivolumab (1 mg/kg) and ipilimumab (3 mg/kg) IV every 3 weeks and, upon progression, he was switched to a higher dose of nivolumab (3 mg/kg IV every 2 weeks) and binimetinib (24 mg/m2/dose, twice a day). The patient had significant improvement of CNS disease with radiation therapy and initial immunotherapy but progression of extracranial metastatic peritoneal and abdominal disease. Radiation was not administered to the whole abdomen. After two cycles of nivolumab and treatment with the MEK inhibitor binimetinib, he had radiographic and clinical improvement in abdominal metastasis and ascitis. He ultimately died from RSV infection, Klebsiella sepsis, and subdural hemorrhage without evidence of tumor progression. This is the first report of a child with primary meningeal melanomatosis with extracranial metastatic disease with response to a combination of radiation, immunotherapy and MEK inhibitor therapy.
摘要：
原发性脑膜黑素瘤病是一种极为罕见的肿瘤，对治疗的反应很少。一个有复杂病史的3岁男性,包括早产和分流性脑积水,经腹膜植入物诊断为原发性脑膜黑素瘤病。分子检测显示NRASQ61R突变。患者接受质子颅脊髓放疗，然后每3周静脉注射nivolumab（1mg/kg）和ipilimumab（3mg/kg）进行免疫治疗，在进步时，他被转换为更高剂量的nivolumab（每2周静脉注射3mg/kg）和binimetinib（24mg/m2/剂量，一天两次)。通过放射治疗和初始免疫疗法，患者的CNS疾病得到了显着改善，但颅外转移性腹膜和腹部疾病的进展。没有对整个腹部进行辐射。经过两个周期的纳武单抗和MEK抑制剂比米替尼治疗，他的腹部转移和腹膜炎的影像学和临床改善。他最终死于RSV感染,克雷伯菌败血症,和硬膜下出血，没有肿瘤进展的证据。这是一例原发性脑膜黑素瘤病合并颅外转移性疾病的儿童首次报告，免疫疗法和MEK抑制剂治疗。
