Trametinib for a child with refractory Rosai–Dorfman–Destombes disease harboring a novel somatic mutation in MAP2K1

Abla O, Jacobsen E, Picarsic J, Krenova Z, Jaffe R, Emile JF, et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood. 2018;131:2877–90.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bruce-Brand C, Schneider JW, Schubert P. Rosai-Dorfman disease: an overview. J Clin Pathol. 2020;73:697–705.

Article  CAS  PubMed  Google Scholar 

Chen HH, Zhou SH, Wang SQ, Teng XD, Fan J. Factors associated with recurrence and therapeutic strategies for sinonasal Rosai-Dorfman disease. Head Neck. 2012;34:1504–13.

Article  PubMed  Google Scholar 

Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, Li J, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. Mod Pathol. 2017;30:1367–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Durham BH, Lopez Rodrigo E, Picarsic J, Abramson D, Rotemberg V, De Munck S, et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. Nat Med. 2019;25:1839–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hélias-Rodzewicz Z, Donadieu J, Terrones N, Barkaoui MA, Lambilliotte A, Moshous D, et al. Molecular and clinicopathologic characterization of pediatric histiocytoses. Am J Hematol. 2023;98:1058–69.

Article  PubMed  Google Scholar 

Abeykoon JP, Rech KL, Young JR, Ravindran A, Ruan GJ, Dasari S, et al. Outcomes after treatment with cobimetinib in patients with Rosai-Dorfman disease based on KRAS and MEK alteration status. JAMA Oncol. 2022;8:1816–20.

Article  PubMed  PubMed Central  Google Scholar 

Aaroe A, Kurzrock R, Goyal G, Goodman AM, Patel H, Ruan G, et al. Successful treatment of non-Langerhans cell histiocytosis with the MEK inhibitor trametinib: a multicenter analysis. Blood Adv. 2023;7:3984–92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morimoto A, Shimazaki C, Takahashi S, Yoshikawa K, Nishimura R, Wakita H, et al. Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group. Int J Hematol. 2013;97:103–8.

Article  PubMed  Google Scholar 

Morimoto A, Shioda Y, Imamura T, Kudo K, Kawaguchi H, Sakashita K, et al. Intensified and prolonged therapy comprising cytarabine, vincristine and prednisolone improves outcome in patients with multisystem Langerhans cell histiocytosis: results of the Japan Langerhans Cell Histiocytosis Study Group-02 Protocol Study. Int J Hematol. 2016;104:99–109.

Article  CAS  PubMed  Google Scholar 

Acosta-Medina AA, Abeykoon JP, Go RS, Goyal G, Ravindran A, Schram SM, et al. BRAF testing modalities in histiocytic disorders: comparative analysis and proposed testing algorithm. Am J Clin Pathol. 2023;160:483–9.

Article  CAS  PubMed  Google Scholar 

Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A. 2007;143A:1472–80.

Article  CAS  PubMed  Google Scholar 

Kinoshita-Kikuta E, Kinoshita E, Ueda S, Ino Y, Kimura Y, Hirano H, et al. Increase in constitutively active MEK1 species by introduction of MEK1 mutations identified in cancers. Biochim Biophys Acta Proteins Proteom. 2019;1867:62–70.

Article  CAS  PubMed  Google Scholar 

National Center for Biotechnology Information. ClinVar; [VCV000222074.4], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000222074.4 (Accessed Aug. 10, 2023)

Whitlock JA, Geoerger B, Dunkel IJ, Roughton M, Choi J, Osterloh L, et al. Dabrafenib, alone or in combination with trametinib, in BRAF V600-mutated pediatric Langerhans cell histiocytosis. Blood Adv. 2023;7:3806–15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gouda MA, Subbiah V. Expanding the benefit: Dabrafenib/Trametinib as tissue-agnostic therapy for BRAF V600E-positive adult and pediatric solid tumors. Am Soc Clin Oncol Educ Book. 2023;43: e404770.

Article  PubMed  Google Scholar 

Bouffet E, Geoerger B, Moertel C, Whitlock JA, Aerts I, Hargrave D, et al. Efficacy and safety of trametinib monotherapy or in combination with Dabrafenib in pediatric BRAF V600-mutant low-grade glioma. J Clin Oncol. 2023;41:664–74.

Article  CAS  PubMed  Google Scholar 

Donadieu J, Larabi IA, Tardieu M, Visser J, Hutter C, Sieni E, et al. Vemurafenib for refractory multisystem langerhans cell histiocytosis in children: an international observational study. J Clin Oncol. 2019;37:2857–65.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Evseev D, Osipova D, Kalinina I, Raykina E, Ignatova A, Lyudovskikh E, et al. Vemurafenib combined with cladribine and cytarabine results in durable remission of pediatric BRAF V600E-positive LCH. Blood Adv. 2023;7:5246–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Comments (0)

No login
gif