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Gestational Trophoblastic Neoplasia (GTN) is a rare spectrum of malignant placental-related tumors necessitating systemic anti-cancer treatment. Leptomeningeal metastasis is an exceedingly rare complication associated with GTN and not well documented in medical literature. Due to the lack of established standardized treatment protocols for patients with leptomeningeal involvement, therapeutic approaches remain controversial. We present a patient with stage IV ultra-high risk GTN (WHO score 14), who experienced both intraparenchymal and leptomeningeal metastasis, treated effectively with concomitant systemic and intrathecal chemotherapy.

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A 44-year-old woman presented with vaginal bleeding, headaches, and blurry vision. She had a history of a complete hydatidiform mole managed with dilation and curettage one year prior to presentation without follow-up serum HCG surveillance. Nine months later, she had a positive home pregnancy test. Transvaginal ultrasound revealed hypoechoic cystic lesions in the uterus and bilateral ovarian cysts with serum beta-HCG level of 84,000. Unfortunately, the patient was lost to follow-up. She re-presented six months later with a vaginal hemorrhage in setting of 10cm fungating mass and serum beta-HCG of 329,550. At admission for multiagent chemotherapy, MRI brain revealed multiple frontal and occipital enhancing lesions, consistent with metastases, along with subarachnoid space lesions indicative of leptomeningeal spread. The patient was treated with six cycles of intrathecal Methotrexate and systemic EMA-EP. Follow-up MRI two months later showed no evidence of leptomeningeal disease. HCG from serum and cerebrospinal fluid was collected and monitored until normalization. Sadly, despite disease improvement, the patient passed of sepsis-related complications.

This case demonstrates a rare presentation of stage IV GTN with an ultra-high risk WHO score including parenchymal and leptomeningeal disease, that had a favorable radiologic response to systemic and intrathecal chemotherapy. It also highlights CSF beta-HCG as a novel marker, alongside serum beta-HCG, for monitoring disease response.