Dramatic Therapeutic Response to Dabrafenib Plus Trametinib in BRAF V600E Mutated Papillary Craniopharyngiomas: A Case Report and Literature Review.

Morena Fasano,Carminia Maria Della Corte,Raffaele Rauso,Teresa Troiani,Stefania Napolitano,Marianna Caterino,Floriana Morgillo,Fortunato Ciardiello,Mario Pirozzi,Giulia Martini

doi:10.3389/fmed.2021.652005

Morena Fasano, Carminia Maria Della Corte + Show 8 more

Open Access

https://doi.org/10.3389/fmed.2021.652005

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Abstract

BackgroundCraniopharyngioma is a rare intracranial tumor, with a high morbidity rate due to its common refractiveness to conventional treatments. BRAF V600E mutation has recently been identified as the principal oncogenic molecular driver of papillary craniopharyngiomas (PCP), one of the two main variants of craniopharyngioma.Case PresentationA 49-year-old man with recurrent craniopharyngioma, harboring BRAF V600E mutation, has been treated with targeted therapy based on a combination of a BRAF-inhibitor, dabrafenib (150 mg, orally two times daily), and a MEK-inhibitor, trametinib (2 mg, orally two times daily). Before starting treatment, the patient was symptomatic: he lamented confusion, dysphasia, and intense fatigue, that did not allow him to work normally. After just one cycle of treatment, the patient showed an important clinical improvement, reporting a progressive regression of the basal symptoms, hinting at a rapid and dramatic response, which was confirmed at the first radiological assessment. Thus, treatment was continued and at the time of writing, the treatment is still ongoing (total duration of treatment: 14 months) and it is well tolerated, with very good quality of life: the patient has no limitations in daily activities and he has even been able to restart to work.ConclusionThe use of targeted therapies—as a clinical practice or in clinical trials—represents an important therapeutic alternative and a great evolution for patients' prognosis vs. the standard of care, historically represented by unselected chemotherapies. The discovery of the BRAF V600E mutation in patients with PCP is very rare, resulting in a lack of data on the efficacy of the combination of dabrafenib and trametinib.

Highlights

Craniopharyngiomas (CPs) are rare primary brain tumors, that are originated from the embryonic remnants of Rathke’s pouch
CPs can be located either in the sella turcica or above it. They show high levels of morbidity, as they arise in the proximity of critical brain structures and can often compress or infiltrate vital neurological areas
There are two histopathologic variants of craniopharyngioma: adamantinomatus craniopharyngioma (APC) that occurs in both children and adults and papillary craniopharyngioma (PCP) that occurs almost exclusively in adults, typically between the age of 40 and 55 [1] (Figure 1)

Summary

Background

Craniopharyngioma is a rare intracranial tumor, with a high morbidity rate due to its common refractiveness to conventional treatments. Case Presentation: A 49-year-old man with recurrent craniopharyngioma, harboring BRAF V600E mutation, has been treated with targeted therapy based on a combination of a BRAF-inhibitor, dabrafenib (150 mg, orally two times daily), and a MEK-inhibitor, trametinib (2 mg, orally two times daily). The patient was symptomatic: he lamented confusion, dysphasia, and intense fatigue, that did not allow him to work normally. Treatment was continued and at the time of writing, the treatment is still ongoing (total duration of treatment: 14 months) and it is well tolerated, with very good quality of life: the patient has no limitations in daily activities and he has even been able to restart to work

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INTRODUCTION

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