78
Views
0
CrossRef citations to date
0
Altmetric
Case Report

Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report

ORCID Icon, , , &
Pages 71-78 | Received 23 Nov 2023, Accepted 15 Jan 2024, Published online: 26 Jan 2024

References

  • Estrada-Veras JI, O'brien KJ, Boyd LC et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv 1(6), 357–366 (2017).
  • Munoz J, Janku F, Cohen PR, Kurzrock R. Erdheim-Chester disease: characteristics and management. Mayo Clin. Proc. 89(7), 985–996 (2014).
  • Al Bayati A, Plate T, Al Bayati M, Yan Y, Lavi ES, Rosenblatt JD. Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement. Mayo Clin Proc Innov Qual Outcomes 2(3), 303–308 (2018).
  • Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood 135(16), 1311–1318 (2020).
  • Goyal G, Heaney ML, Collin M et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood 135(22), 1929–1945 (2020).
  • Cohen Aubart F, Idbaih A, Emile JF et al. Histiocytosis and the nervous system: from diagnosis to targeted therapies. Neuro Oncol 23(9), 1433–1446 (2021).
  • Goyal G, Young JR, Koster MJ et al. The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease. Mayo Clin. Proc. 94(10), 2054–2071 (2019).
  • Aktan Suzgun M, Everest E, Kucukyurt S et al. Erdheim-Chester disease of brain parenchyma without any systemic involvement: a case report and review of literature. Neuropathology doi: 10.1111/neup.12930 (2023).
  • Gray JCR, Kim J, Digianvittorio M et al. BRAF-Mutated Erdheim-Chester Disease: Profound Response to Vemurafenib Visualized With Serial Multimodality Imaging. J Natl Compr Canc Netw 18(6), 650–655 (2020).
  • Cangi MG, Biavasco R, Cavalli G et al. BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease. Ann. Rheum. Dis. 74(8), 1596–1602 (2015).
  • Oneal PA, Kwitkowski V, Luo L et al. FDA Approval Summary: vemurafenib for the Treatment of Patients with Erdheim-Chester Disease with the BRAFV600 Mutation. Oncologist 23(12), 1520–1524 (2018).
  • Bhatia A, Hatzoglou V, Ulaner G et al. Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series. Neuro Oncol 22(7), 979–992 (2020).
  • Cohen-Aubart F, Emile JF, Carrat F et al. Phenotypes and survival in Erdheim-Chester disease: results from a 165-patient cohort. Am. J. Hematol. 93(5), E114–E117 (2018).
  • Haroche J, Charlotte F, Arnaud L et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood 120(13), 2700–2703 (2012).
  • Boyd LC, O'brien KJ, Ozkaya N et al. Neurological manifestations of Erdheim-Chester Disease. Ann Clin Transl Neurol 7(4), 497–506 (2020).
  • Tavakoli M, Roghaee S, Gunturu M, Omuro AM, Lam BL, Mendoza-Santiesteban CE. Erdheim-Chester Disease Presenting With Diplopia: A Challenging Diagnosis With Effective Treatment. J. Neuroophthalmol. 41(3), e324–e325 (2021).
  • Salama H, Fahed Alzayed M, Alharbi KG et al. Erdheim-Chester Disease Successfully Treated with Front-Line Single-Agent Dabrafenib. Am J Case Rep 23, e935090 (2022).
  • Berti A, Cavalli G, Guglielmi B et al. Tocilizumab in patients with multisystem Erdheim-Chester disease. Oncoimmunology 6(6), e1318237 (2017).
  • Miller RC, Villa S, Kamer S et al. Palliative treatment of Erdheim-Chester disease with radiotherapy: a Rare Cancer Network study. Radiother. Oncol. 80(3), 323–326 (2006).
  • Mascalchi M, Nencini P, Nistri M, Sarti C, Santoni R. Failure of radiation therapy for brain involvement in Erdheim Chester disease. J. Neurooncol. 59(2), 169–172 (2002).
  • Badzek S, Misir-Krpan A, Krajina Z, Radman I, Stern-Padovan R, Dotlic S. Erdheim-Chester disease and concomitant tuberculosis successfully treated with chemotherapy and long-term steroids. Coll Antropol 31(2), 621–623 (2007).
  • Cuoco JA, Klein BJ, Busch CM, Guilliams EL, Olasunkanmi AL, Entwistle JJ. Corticosteroid-Induced Regression of Glioblastoma: A Radiographic Conundrum. Front Oncol 9, 1288 (2019).
  • Dietrich J, Rao K, Pastorino S, Kesari S. Corticosteroids in brain cancer patients: benefits and pitfalls. Expert Rev Clin Pharmacol 4(2), 233–242 (2011).
  • Arnaud L, Hervier B, Neel A et al. CNS involvement and treatment with interferon-alpha are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood 117(10), 2778–2782 (2011).
  • Haroche J, Cohen-Aubart F, Emile JF et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood 121(9), 1495–1500 (2013).
  • Cohen-Aubart F, Emile JF, Maksud P et al. Marked efficacy of vemurafenib in suprasellar Erdheim-Chester disease. Neurology 83(14), 1294–1296 (2014).
  • Diamond EL, Dagna L, Hyman DM et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood 124(4), 483–492 (2014).
  • Cao XX, Niu N, Sun J et al. Clinical and positron emission tomography responses to long-term high-dose interferon-alpha treatment among patients with Erdheim-Chester disease. Orphanet J Rare Dis 14(1), 11 (2019).
  • Cohen Aubart F, Idbaih A, Galanaud D et al. Central nervous system involvement in Erdheim-Chester disease: an observational cohort study. Neurology 95(20), e2746–e2754 (2020).
  • Pegoraro F, Papo M, Maniscalco V, Charlotte F, Haroche J, Vaglio A. Erdheim-Chester disease: a rapidly evolving disease model. Leukemia 34(11), 2840–2857 (2020).
  • Diamond EL, Subbiah V, Lockhart AC et al. Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study. JAMA Oncol 4(3), 384–388 (2018).
  • Tzoulis C, Schwarzlmuller T, Gjerde IO et al. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. BMC Res Notes 8, 171 (2015).
  • Dion E, Graef C, Miquel A et al. Bone involvement in Erdheim-Chester disease: imaging findings including periostitis and partial epiphyseal involvement. Radiology 238(2), 632–639 (2006).
  • Parks NE, Goyal G, Go RS, Mandrekar J, Tobin WO. Neuroradiologic manifestations of Erdheim-Chester disease. Neurol Clin Pract 8(1), 15–20 (2018).
  • The Lancet H. Orphan drug approval for Erdheim-Chester disease. Lancet Haematol 4(12), e562 (2017).
  • Haroche J, Cohen-Aubart F, Emile JF et al. Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. J. Clin. Oncol. 33(5), 411–418 (2015).
  • Euskirchen P, Haroche J, Emile JF, Buchert R, Vandersee S, Meisel A. Complete remission of critical neurohistiocytosis by vemurafenib. Neurol Neuroimmunol Neuroinflamm 2(2), e78 (2015).
  • Mittapalli RK, Vaidhyanathan S, Sane R, Elmquist WF. Impact of P-glycoprotein (ABCB1) and breast cancer resistance protein (ABCG2) on the brain distribution of a novel BRAF inhibitor: vemurafenib (PLX4032). J. Pharmacol. Exp. Ther. 342(1), 33–40 (2012).
  • Davies MA, Saiag P, Robert C et al. Dabrafenib plus trametinib in patients with BRAF(V600)-mutant melanoma brain metastases (COMBI-MB): a multicentre, multicohort, open-label, phase 2 trial. Lancet Oncol 18(7), 863–873 (2017).
  • Mittapalli RK, Vaidhyanathan S, Dudek AZ, Elmquist WF. Mechanisms limiting distribution of the threonine-protein kinase B-RaF(V600E) inhibitor dabrafenib to the brain: implications for the treatment of melanoma brain metastases. J. Pharmacol. Exp. Ther. 344(3), 655–664 (2013).
  • Jhaveri KD, Sakhiya V, Fishbane S. Nephrotoxicity of the BRAF Inhibitors Vemurafenib and Dabrafenib. JAMA Oncol 1(8), 1133–1134 (2015).
  • Welsh SJ, Corrie PG. Management of BRAF and MEK inhibitor toxicities in patients with metastatic melanoma. Ther Adv Med Oncol 7(2), 122–136 (2015).
  • Bhatia A, Ulaner G, Rampal R et al. Single-agent dabrafenib for BRAF(V600E)-mutated histiocytosis. Haematologica 103(4), e177–e180 (2018).
  • Costa S, Juliao MJ, Silva S, Brito MJ. Erdheim-Chester disease: a rare non-Langerhans histiocytosis. BMJ Case Rep 14(9), (2021).
  • Hao X, Feng R, Bi Y et al. Dramatic efficacy of dabrafenib in Erdheim-Chester disease (ECD): a pediatric patient with multiple large intracranial ECD lesions hidden by refractory Langerhans cell histiocytosis. J Neurosurg Pediatr 23(1), 48–53 (2018).
  • Cohen Aubart F, Emile JF, Carrat F et al. Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study). Blood 130(11), 1377–1380 (2017).
  • Brodie J, Zhou S, Makkuni D et al. Erdheim-Chester Disease: two cases from an ophthalmic perspective. Am J Ophthalmol Case Rep 20, 100984 (2020).
  • Park JK, Huang LC, Kossler AL. Erdheim-Chester disease and vemurafenib: a review of ophthalmic presentations and clinical outcomes. Orbit 42(3), 233–244 (2023).
  • Huang LC, Topping KL, Gratzinger D et al. Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib. Am J Ophthalmol Case Rep 11, 158–163 (2018).
  • Grumbine FL, Aderman C, Vagefi MR, Kersten RC. Orbital MRI Pre- and Post-Vemurafenib Therapy for Erdheim-Chester Disease. Ophthalmic Plast Reconstr Surg 31(6), e169 (2015).
  • Gupta A, Yeganeh A, Rootman D, Goldberg R. Vemurafenib (BRAF Inhibitor) Therapy for Orbital Erdheim-Chester Disease. Ophthalmic Plast Reconstr Surg 33(6), e138–e139 (2017).
  • Nordmann TM, Juengling FD, Recher M et al. Trametinib after disease reactivation under dabrafenib in Erdheim-Chester disease with both BRAF and KRAS mutations. Blood 129(7), 879–882 (2017).
  • King AJ, Arnone MR, Bleam MR et al. Dabrafenib; preclinical characterization, increased efficacy when combined with trametinib, while BRAF/MEK tool combination reduced skin lesions. PLOS ONE 8(7), e67583 (2013).
  • Grob JJ, Amonkar MM, Karaszewska B et al. Comparison of dabrafenib and trametinib combination therapy with vemurafenib monotherapy on health-related quality of life in patients with unresectable or metastatic cutaneous BRAF Val600-mutation-positive melanoma (COMBI-v): results of a phase 3, open-label, randomised trial. Lancet Oncol 16(13), 1389–1398 (2015).
  • Mazor RD, Weissman R, Luckman J et al. Dual BRAF/MEK blockade restores CNS responses in BRAF-mutant Erdheim-Chester disease patients following BRAF inhibitor monotherapy. Neurooncol Adv 2(1), vdaa024 (2020).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.