Targeted therapy in BRAF mutated aggressive papillary craniopharyngioma: a case report and overview of the literature.
BRAF mutation
Chemotherapy
Craniopharyngioma
Pituitary neoplasm
Recurrence
Journal
Journal of endocrinological investigation
ISSN: 1720-8386
Titre abrégé: J Endocrinol Invest
Pays: Italy
ID NLM: 7806594
Informations de publication
Date de publication:
02 May 2024
02 May 2024
Historique:
received:
14
11
2023
accepted:
23
04
2024
medline:
2
5
2024
pubmed:
2
5
2024
entrez:
2
5
2024
Statut:
aheadofprint
Résumé
Papillary craniopharyngiomas harbor the BRAF V600E mutation, which paves the way for using BRAF inhibitor molecules to treat tumors refractory to standard therapies. Single case reports confirmed the efficacy of targeted therapy. However, most reports were limited by the short follow-up. We describe the long-term course of a patient treated with dual-agent BRAF and MEK inhibitors and review the available literature. A 75-year-old male patient had recurrence of a papillary craniopharyngioma after transsphenoidal surgery and Gamma Knife radiosurgery. Review of the pathologic specimen confirmed the presence of the BRAF V600E mutation. Because of the few therapeutic options, we decided to initiate BRAF/MEK inhibitor combined therapy for six months. Rapid reduction of the tumor occurred, but three months after quitting combined medical therapy the tumor recurred. BRAF/MEK inhibitor therapy was resumed and the tumor again showed a marked reduction. The second course was maintained for 20 months and the tumor showed another recurrence within three months, which, again, responded to a third course of targeted therapy. Our study confirms the excellent response of papillary craniopharyngioma to combined BRAF and MEK inhibitors. However, rapid tumor recurrence is the rule when medical therapy is stopped. Resistance to a second and third course of targeted therapy did not occur, suggesting that tumor mutations affecting the response to drugs seems an uncommon event in papillary craniopharyngioma. The exact role of targeted therapy in the treatment algorithm of papillary craniopharyngiomas has still to be refined.
Sections du résumé
BACKGROUND
BACKGROUND
Papillary craniopharyngiomas harbor the BRAF V600E mutation, which paves the way for using BRAF inhibitor molecules to treat tumors refractory to standard therapies. Single case reports confirmed the efficacy of targeted therapy. However, most reports were limited by the short follow-up. We describe the long-term course of a patient treated with dual-agent BRAF and MEK inhibitors and review the available literature.
CASE REPORT
METHODS
A 75-year-old male patient had recurrence of a papillary craniopharyngioma after transsphenoidal surgery and Gamma Knife radiosurgery. Review of the pathologic specimen confirmed the presence of the BRAF V600E mutation. Because of the few therapeutic options, we decided to initiate BRAF/MEK inhibitor combined therapy for six months. Rapid reduction of the tumor occurred, but three months after quitting combined medical therapy the tumor recurred. BRAF/MEK inhibitor therapy was resumed and the tumor again showed a marked reduction. The second course was maintained for 20 months and the tumor showed another recurrence within three months, which, again, responded to a third course of targeted therapy.
CONCLUSIONS
CONCLUSIONS
Our study confirms the excellent response of papillary craniopharyngioma to combined BRAF and MEK inhibitors. However, rapid tumor recurrence is the rule when medical therapy is stopped. Resistance to a second and third course of targeted therapy did not occur, suggesting that tumor mutations affecting the response to drugs seems an uncommon event in papillary craniopharyngioma. The exact role of targeted therapy in the treatment algorithm of papillary craniopharyngiomas has still to be refined.
Identifiants
pubmed: 38696125
doi: 10.1007/s40618-024-02382-7
pii: 10.1007/s40618-024-02382-7
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).
Références
Karavitaki N, Cudlip S, Adams CB, Wass JA (2006) Craniopharyngiomas. Endocr Rev 27(4):371–397. https://doi.org/10.1210/er.2006-0002
doi: 10.1210/er.2006-0002
pubmed: 16543382
Mortini P, Losa M, Pozzobon G, Barzaghi R, Riva M, Acerno S, Angius D, Weber G, Chiumello G, Giovanelli M (2011) Neurosurgical treatment of craniopharyngioma in adults and children: early and long-term results in a large case series. J Neurosurg 114(5):1350–1359. https://doi.org/10.3171/2010.11.JNS10670
doi: 10.3171/2010.11.JNS10670
pubmed: 21214336
Petito CK, De Girolami U, Earle K (1976) Craniopharyngiomas. A clinical and pathological review. Cancer 37(4):1944–1952. https://doi.org/10.1002/1097-0142(197604)37 . (4<1944::aid-cncr2820370446>3.0.co;2-#)
doi: 10.1002/1097-0142(197604)37
pubmed: 1260697
Fernandez-Miranda JC, Gardner PA, Snyderman CH, Devaney KO, Strojan P, Suarez C, Genden EM, Rinaldo A, Ferlito A (2012) Craniopharyngioma: a pathologic, clinical, and surgical review. Head Neck 34(7):1036–1044. https://doi.org/10.1002/hed.21771
doi: 10.1002/hed.21771
pubmed: 21584897
Weiner HL, Wisoff JH, Rosenberg ME, Kupersmith MJ, Cohen H, Zagzag D, Shiminski-Maher T, Flamm ES, Epstein FJ, Miller DC (1994) Craniopharyngiomas: a clinicopathological analysis of factors predictive of recurrence and functional outcome. Neurosurgery 35(6):1001–1010. https://doi.org/10.1227/00006123-199412000-00001 . (discussion 1010-1011)
doi: 10.1227/00006123-199412000-00001
pubmed: 7885544
Mortini P, Gagliardi F, Boari N, Losa M (2013) Surgical strategies and modern therapeutic options in the treatment of craniopharyngiomas. Crit Rev Oncol Hematol 88(3):514–529. https://doi.org/10.1016/j.critrevonc.2013.07.013
doi: 10.1016/j.critrevonc.2013.07.013
pubmed: 23932582
Bülow B, Attewell R, Hagmar L, Malmström P, Nordström CH, Erfurth EM (1998) Postoperative prognosis in craniopharyngioma with respect to cardiovascular mortality, survival, and tumor recurrence. J Clin Endocrinol Metab 83(11):3897–3904. https://doi.org/10.1210/jcem.83.11.5240
doi: 10.1210/jcem.83.11.5240
pubmed: 9814465
Losa M, Pieri V, Bailo M, Gagliardi F, Barzaghi LR, Gioia L, Del Vecchio A, Bolognesi A, Mortini P (2018) Single fraction and multisession Gamma Knife radiosurgery for craniopharyngioma. Pituitary 21(5):499–506. https://doi.org/10.1007/s11102-018-0903-5
doi: 10.1007/s11102-018-0903-5
pubmed: 30043097
Brastianos PK, Taylor-Weiner A, Manley PE, Jones RT, Dias-Santagata D, Thorner AR, Lawrence MS, Rodriguez FJ, Bernardo LA, Schubert L, Sunkavalli A, Shillingford N, Calicchio ML, Lidov HG, Taha H, Martinez-Lage M, Santi M, Storm PB, Lee JY, Palmer JN, Adappa ND, Scott RM, Dunn IF, Laws ER Jr, Stewart C, Ligon KL, Hoang MP, Van Hummelen P, Hahn WC, Louis DN, Resnick AC, Kieran MW, Getz G, Santagata S (2014) Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet 46(2):161–165. https://doi.org/10.1038/ng.2868
doi: 10.1038/ng.2868
pubmed: 24413733
pmcid: 3982316
Alexandraki KI, Kaltsas GA, Karavitaki N, Grossman AB (2019) The medical therapy of craniopharyngiomas: the way ahead. J Clin Endocrinol Metab 104(12):5751–5764. https://doi.org/10.1210/jc.2019-01299
doi: 10.1210/jc.2019-01299
pubmed: 31369091
Brastianos PK, Shankar GM, Gill CM, Taylor-Weiner A, Nayyar N, Panka DJ, Sullivan RJ, Frederick DT, Abedalthagafi M, Jones PS, Dunn IF, Nahed BV, Romero JM, Louis DN, Getz G, Cahill DP, Santagata S, Curry WT Jr, Barker FG 2nd (2015) Dramatic response of BRAF V600E mutant papillary craniopharyngioma to targeted therapy. J Natl Cancer Inst 108(2):djv310. https://doi.org/10.1093/jnci/djv310
doi: 10.1093/jnci/djv310
pubmed: 26498373
pmcid: 4862417
Aylwin SJ, Bodi I, Beaney R (2016) Pronounced response of papillary craniopharyngioma to treatment with vemurafenib, a BRAF inhibitor. Pituitary 19(5):544–546. https://doi.org/10.1007/s11102-015-0663-4
doi: 10.1007/s11102-015-0663-4
pubmed: 26115708
Roque A, Odia Y (2017) BRAF-V600E mutant papillary craniopharyngioma dramatically responds to combination BRAF and MEK inhibitors. CNS Oncol 6(2):95–99. https://doi.org/10.2217/cns-2016-0034
doi: 10.2217/cns-2016-0034
pubmed: 28425764
pmcid: 6020871
Rostami E, Witt Nyström P, Libard S, Wikström J, Casar-Borota O, Gudjonsson O (2017) Recurrent papillary craniopharyngioma with BRAFV600E mutation treated with neoadjuvant -targeted therapy. Acta Neurochir (Wien) 159(11):2217–2221. https://doi.org/10.1007/s00701-017-3311-0
doi: 10.1007/s00701-017-3311-0
pubmed: 28918496
Himes BT, Ruff MW, Van Gompel JJ, Park SS, Galanis E, Kaufmann TJ, Uhm JH (2018) Recurrent papillary craniopharyngioma withBRAF V600E mutation treated with dabrafenib: case report. J Neurosurg. https://doi.org/10.3171/2017.11.JNS172373
doi: 10.3171/2017.11.JNS172373
pubmed: 29701552
Juratli TA, Jones PS, Wang N, Subramanian M, Aylwin SJB, Odia Y, Rostami E, Gudjonsson O, Shaw BL, Cahill DP, Galanis E, Barker FG 2nd, Santagata S, Brastianos PK (2019) Targeted treatment of papillary craniopharyngiomas harboring BRAF V600E mutations. Cancer 125(17):2910–2914. https://doi.org/10.1002/cncr.32197
doi: 10.1002/cncr.32197
pubmed: 31314136
Rao M, Bhattacharjee M, Shepard S, Hsu S (2019) Newly diagnosed papillary craniopharyngioma with BRAF V600E mutation treated with single-agent selective BRAF inhibitor dabrafenib: a case report. Oncotarget 10(57):6038–6042. https://doi.org/10.18632/oncotarget.27203
doi: 10.18632/oncotarget.27203
pubmed: 31666933
pmcid: 6800270
Bernstein A, Mrowczynski OD, Greene A, Ryan S, Chung C, Zacharia BE, Glantz M (2019) Dual BRAF/MEK therapy in BRAF V600E-mutated primary brain tumors: a case series showing dramatic clinical and radiographic responses and a reduction in cutaneous toxicity. J Neurosurg 144(6):1704–1709. https://doi.org/10.3171/2019.8.JNS19643
doi: 10.3171/2019.8.JNS19643
Di Stefano AL, Guyon D, Sejean K, Feuvret L, Villa C, Berzero G, Desforges Bullet V, Halimi E, Boulin A, Baussart B, Gaillard S (2020) Medical debulking with BRAF/MEK inhibitors in aggressive BRAF-mutant craniopharyngioma. Neurooncol Adv 2(1):vdaa141. https://doi.org/10.1093/noajnl/vdaa141
doi: 10.1093/noajnl/vdaa141
pubmed: 33241217
pmcid: 7680180
Khaddour K, Chicoine MR, Huang J, Dahiya S, Ansstas G (2020) Successful use of BRAF/MEK inhibitors as a neoadjuvant approach in the definitive treatment of papillary craniopharyngioma. J Natl Compr Canc Netw 18(12):1590–1595. https://doi.org/10.6004/jnccn.2020.7624
doi: 10.6004/jnccn.2020.7624
pubmed: 33285519
Chik CL, van Landeghem FKH, Easaw JC, Mehta V (2021) Aggressive childhood-onset papillary craniopharyngioma managed with Vemurafenib, a BRAF inhibitor. J Endocr Soc 5(5):bvab043. https://doi.org/10.1210/jendso/bvab043
doi: 10.1210/jendso/bvab043
pubmed: 33928205
pmcid: 8064044
Fasano M, Della Corte CM, Caterino M, Pirozzi M, Rauso R, Troiani T, Martini G, Napolitano S, Morgillo F, Ciardiello F (2022) Dramatic therapeutic response to dabrafenib plus trametinib in BRAF V600E mutated papillary craniopharyngiomas: a case report and literature review. Front Med (Lausanne) 8:652005. https://doi.org/10.3389/fmed.2021.652005
doi: 10.3389/fmed.2021.652005
pubmed: 35155453
Nussbaum PE, Nussbaum LA, Torok CM, Patel PD, Yesavage TA, Nussbaum ES (2022) Case report and literature review of BRAF-V600 inhibitors for treatment of papillary craniopharyngiomas: a potential treatment paradigm shift. J Clin Pharm Ther. https://doi.org/10.1111/jcpt.13600
doi: 10.1111/jcpt.13600
pubmed: 35023192
Calvanese F, Jacquesson T, Manet R, Vasiljevic A, Lasolle H, Ducray F, Raverot G, Jouanneau E (2022) Neoadjuvant B-RAF and MEK inhibitor targeted therapy for adult papillary craniopharyngiomas: a new treatment paradigm. Front Endocrinol (Lausanne) 13:882381. https://doi.org/10.3389/fendo.2022.882381
doi: 10.3389/fendo.2022.882381
pubmed: 35757402
Brastianos PK, Twohy E, Geyer S, Gerstner ER, Kaufmann TJ, Tabrizi S, Kabat B, Thierauf J, Ruff MW, Bota DA, Reardon DA, Cohen AL, De La Fuente MI, Lesser GJ, Campian J, Agarwalla PK, Kumthekar P, Mann B, Vora S, Knopp M, Iafrate AJ, Curry WT Jr, Cahill DP, Shih HA, Brown PD, Santagata S, Barker FG 2nd, Galanis E (2023) BRAF-MEK inhibition in newly diagnosed papillary craniopharyngiomas. N Engl J Med 389(2):118–126. https://doi.org/10.1056/NEJMoa2213329
doi: 10.1056/NEJMoa2213329
pubmed: 37437144
pmcid: 10464854
Welsh SJ, Corrie PG (2015) Management of BRAF and MEK inhibitor toxicities in patients with metastatic melanoma. Ther Adv Med Oncol 7(2):122–136. https://doi.org/10.1177/1758834014566428
doi: 10.1177/1758834014566428
pubmed: 25755684
pmcid: 4346212
Heinzerling L, Eigentler TK, Fluck M, Hassel JC, Heller-Schenck D, Leipe J, Pauschinger M, Vogel A, Zimmer L, Gutzmer R (2019) Tolerability of BRAF/MEK inhibitor combinations: adverse event evaluation and management. ESMO Open 4(3):e000491. https://doi.org/10.1136/esmoopen-2019-000491
doi: 10.1136/esmoopen-2019-000491
pubmed: 31231568
pmcid: 6555610