Supplementary Material for: BRCA1-mutant ovarian cancer with an unusual presentation of leptomeningeal disease early in the course of treatment: a case report

Introduction Leptomeningeal disease is a rare and devastating complication of ovarian cancer which typically occurs in patients with advanced relapsed disease. It is challenging to treat and associated with a very poor prognosis. Case Presentation A 48-year-old patient with BRCA1-mutant high grade serous ovarian cancer underwent neoadjuvant chemotherapy followed by hysterectomy, bilateral salpingo-oophorectomy and omentectomy. There was no macroscopic residual disease after surgery and CA125 normalised. Back pain was reported post-operatively, and at three months post-surgery, the patient presented with worsening headaches, vomiting, and photophobia. After extensive investigations including imaging which was initially reported as normal, and multiple lumbar punctures with no malignant cells detected, she was diagnosed with leptomeningeal disease. A trial of the PARP inhibitor niraparib was initiated, but the patient deteriorated rapidly and died six weeks after presenting with headache. Conclusion The development of leptomeningeal disease in an ovarian cancer patient early in her treatment pathway with apparent good response to systemic therapy is exceedingly unusual. This case posed challenges both in diagnosis and in management, with limited evidence available to guide choice of therapy. Unfortunately, the response to PARP inhibitor in this patient could not be assessed due to her rapid deterioration.

引言
软脑膜病（Leptomeningeal disease）是卵巢癌的一种罕见且致命的并发症，通常发生于晚期复发疾病患者群体中。该病治疗难度极大，且预后极差。

病例报告
一名48岁携带BRCA1突变的高级别浆液性卵巢癌患者，先接受新辅助化疗，随后行子宫切除术、双侧输卵管卵巢切除术及大网膜切除术。术后无肉眼可见残留病灶，癌抗原125（CA125）水平恢复正常。患者术后出现背痛，术后3个月时因头痛加剧、呕吐及畏光就诊。经包括初报正常的影像学检查在内的多项检查，以及多次未检出恶性细胞的腰椎穿刺后，患者被确诊为软脑膜病。遂启动PARP抑制剂（PARP inhibitor）尼拉帕利治疗，但患者病情快速恶化，于出现头痛症状6周后死亡。

结论
该卵巢癌患者在治疗早期即出现软脑膜病，且此前对全身治疗反应良好，此种情况极为罕见。本病的诊断与治疗均面临挑战，可用于指导治疗选择的证据十分有限。遗憾的是，由于患者病情快速恶化，无法评估其对PARP抑制剂的治疗反应。