Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma

Abstract

The management of choroid plexus carcinoma is challenging and multifaceted. Here, we discuss a three-year-old girl with choroid plexus carcinoma and Li-Fraumeni syndrome who achieved full remission after surgery and chemotherapy, with radiation therapy spared. At recurrence, we used a novel, standard-dose cytotoxic chemotherapy regimen, focal proton radiation therapy, and targeted agents based on morphoproteomic analysis to achieve long-term survival. We highlight the rationale for our therapy at recurrence, as well as the risk-benefit analyses necessary in decision making for these patients. Our strategy may be effective in managing other patients with recurrent choroid plexus carcinoma and Li-Fraumeni syndrome.

Molecular insights into malignant progression of atypical choroid plexus papilloma

“…Furthermore, LFS-CPC patients were found to display marginally detrimental response to radiation therapy as compared to those with wild-type TP53 ( Bahar et al 2015 ). Consistent with this observation, a case report of a 3-yr-old girl with LFS-CPC described a complete remission upon treatment with surgery and chemotherapy (without radiation therapy) ( McEvoy et al 2017 ). Similarly, the “Head Start” Consortium experience suggested that with intensive myeloablative-chemotherapy containing regimens, the prognosis of TP53 mutant CPC may be improved in the absence of radiation therapy ( Zaky et al 2015 ).…”

Inhibiting the Priming for Cancer in Li-Fraumeni Syndrome

“…Finally, although not directly relevant to the cancer prevention context, there are two interesting case reports of patients with LFS with cancer who have shown clinically meaningful responses to metformin treatment. In the first case, an infant with LFS and recurrent choroid plexus carcinoma, one of the ‘core’ LFS cancers, was treated with chemotherapy, localised proton beam therapy and subsequently maintenance therapy using a trio of re-purposed non-cancer drugs: metformin, simvastatin and melatonin [ 71 ]. The latter treatment, based on morphoproteomic of the recurrent tumour, is well tolerated and is associated with long-term remission.…”

Triple intraventricular chemotherapy for treatment of relapsed choroid plexus carcinoma

“…2 For patients with relapsed CPC, there is limited evidence to guide treatment. Although case reports have described combinations of surgery, radiotherapy and intravenous chemotherapy, including high dose, [3][4][5][6] few options remain for patients unable to tolerate these modalities. An alternative route is intraventricular chemotherapy, which aims to maximise cerebrospinal fluid (CSF) concentrations while minimising systemic toxicity 7 ; however, choice of agent, dose, formulation, safety and tolerability has not been widely studied.…”