Beneficial effects of vemurafenib on craniopharyngioma carrying BRAF-V600E mutation

doi:10.16352/j.issn.1001-6325.2024.06.0866

Abstract

Abstract: Objective To evaluate the efficacy and adverse reactions of BRAF inhibitor vermorafenib on the treatment of refractory craniopharyngioma carrying BRAF-V600E mutation. Methods Clinical data of two patients with refractory craniopharyngiomas (CP) were recorded and reviewed. The patients were followed up for 3-5 years. Literature on CPs receiving BRAF or BRAF/MEK therapy was reviewed. Results 1)Papillary CP progressed after multiple operations and radiotherapy in two patients. Further treatments were very difficult. 2)The presence of BRAF-V600E mutation in the tumor was confirmed, and vermorafenib was administered for 6.5-7.5 months. Tumor volumes remarkably shrank by 95%-99%. No tumor relapse was observed during the follow-up of 3-5 years after discontinuation of vemurafenib. 3)The main adverse reaction was rash, which was dose dependent. 4)Literature review showed the volume shrank by 50%-100% in 33/34 tumors during BRAF or BRAF/MEK inhibitor therapy. Conclusions BRAF inhibitor vemurafenib is effective in treating refractory craniopharyngioma carrying BRAF-V600E mutation with endurable side effects, which may bring some changes to the management of CP in future.

Key words: papillary craniopharyngioma, BRAF-V600E mutation, BRAF inhibitors, MEK inhibitors

CLC Number:

R739.41

WANG Xi, YE Ting, NIE Min, WU Xueyan, MAO Jiangfeng. Beneficial effects of vemurafenib on craniopharyngioma carrying BRAF-V600E mutation[J]. Basic & Clinical Medicine, 2024, 44(6): 866-872.

References 17

[1]	Xu C, Ge S, Cheng J, et al. Pathological and prognostic characterization of craniopharyngioma based on the expression of TrkA, beta-Catenin, cell cycle markers, and BRAF V600E mutation[J]. Front Endocrinol (Lausanne), 2022, 13: 859381. doi: 10.3389/fendo.2022.859381.
[2]	Fujio S, Juratli T A, Arita K, et al. A clinical rule for preoperative prediction of BRAF mutation status in craniopharyngiomas[J]. Neurosurgery, 2019, 85: 204-210.
[3]	Yue Q, Yu Y, Shi Z, et al. Prediction of BRAF mutation status of craniopharyngioma using magnetic resonance imaging features[J]. J Neurosurg, 2018, 129: 27-34.
[4]	Chik CL, van Landeghem F, Easaw JC, et al. Aggressive childhood-onset papillary craniopharyngioma managed with vemurafenib, a BRAF Inhibitor[J]. J Endocr Soc, 2021, 5. doi: 10.1210/jendso/bvab043.
[5]	Wu ZP, Wang YL, Wang LC, et al. Case report: Successful use of BRAF/MEK inhibitors in aggressive BRAF-mutant craniopharyngioma[J]. World Neurosurg, 2023, 180: e117-e126. doi: 10.1016/j.wneu.2023.08.137.
[6]	Calvanese F, Jacquesson T, Manet R, et al. Neoadjuvant B-RAF and MEK inhibitor targeted therapy for adult papillary craniopharyngiomas: a new treatment paradigm[J]. Front Endocrinol (Lausanne), 2022, 13: 882381. doi: 10.3389/fendo.2022.882381.
[7]	Reyes M, Taghvaei M, Yu S, et al. Targeted therapy in the management of modern craniopharyngiomas[J]. Front Biosci (Landmark Ed), 2022, 27: 136-142.
[8]	Nussbaum PE, Nussbaum LA, Torok CM, et al. Case report and literature review of BRAF-V600 inhibitors for treatment of papillary craniopharyngiomas: a potential treatment paradigm shift[J]. J Clin Pharm Ther, 2022, 47: 826-831.
[9]	Di Stefano AL, Guyon D, Sejean K, et al. Medical debulking with BRAF/MEK inhibitors in aggressive BRAF-mutant craniopharyngioma[J]. Neurooncol Adv, 2020, 2. doi: 10.1093/noajnl/vdaa141
[10]	Khaddour K, Chicoine MR, Huang J, et al. Successful use of BRAF/MEK inhibitors as a neoadjuvant approach in the definitive treatment of papillary craniopharyngioma[J]. J Natl Compr Canc Netw, 2020, 18: 1590-1595.
[11]	Himes BT, Ruff MW, Van Gompel JJ, et al. Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report[J]. J Neurosurg, 2018, 130: 1299-1303.
[12]	Roque A, Odia Y. BRAF-V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors[J]. CNS Oncol, 2017, 6: 95-99.
[13]	Brastianos PK, Twohy E, Geyer S, et al. BRAF-MEK inhibition in newly diagnosed papillary craniopharyngiomas[J]. N Engl J Med, 2023, 389: 118-126.
[14]	Aylwin SJ, Bodi I, Beaney R. Pronounced response of papillary craniopharyngioma to treatment with vemurafenib, a BRAF inhibitor[J]. Pituitary, 2016, 19: 544-546.
[15]	Alexandraki KI, Xekouki P. Medical therapy for craniopharyngiomas[J]. touchREV Endocrinol,2021, 17: 121-132.
[16]	Fasano M, Della CC, Caterino M, et al. Dramatic therapeutic response to dabrafenib plus trametinib in BRAF V600E mutated papillary craniopharyngiomas: a case report and literature review[J]. Front Med (Lausanne), 2021, 8: 652005. doi: 10.3389/fmed.2021.652005.
[17]	Brastianos PK, Shankar GM, Gill CM, et al. Dramatic response of BRAF V600E mutant papillary craniopharyngioma to targeted therapy[J]. J Natl Cancer Inst,2016, 108. doi: 10.1093/jnci/djv310.