Emile JF, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127(22):2672–81. https://doi.org/10.1182/blood-2016-01-690636.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Goyal G, Tazi A, Go RS, et al. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults. Blood. 2022;139(17):2601–21. https://doi.org/10.1182/blood.2021014343.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tazi A, de Margerie C, Naccache JM, et al. The natural history of adult pulmonary Langerhans cell histiocytosis: a prospective multicentre study. Orphanet J Rare Dis. 2015;10:30. https://doi.org/10.1186/s13023-015-0249-2.

Article  PubMed  PubMed Central  Google Scholar 

Vassallo R, Ryu JH, Schroeder DR, et al. Clinical outcomes of pulmonary Langerhans’-cell histiocytosis in adults. N Engl J Med. 2002;346(7):484–90. https://doi.org/10.1056/NEJMoa012087.

Article  PubMed  Google Scholar 

Makras P, Yavropoulou MP, Chatziioannou SN, et al. Efficacy of denosumab monotherapy among adults with Langerhans cell histiocytosis: a prospective clinical trial. Am J Hematol. 2023;98(7):E168–71. https://doi.org/10.1002/ajh.26936.

Article  CAS  PubMed  Google Scholar 

Makras P, Tsoli M, Anastasilakis AD, et al. Denosumab for the treatment of adult multisystem Langerhans cell histiocytosis. Metabolism. 2017;69:107–11. https://doi.org/10.1016/j.metabol.2017.01.004.

Article  CAS  PubMed  Google Scholar 

Cao XX, Li J, Zhao AL, et al. Methotrexate and cytarabine for adult patients with newly diagnosed Langerhans cell histiocytosis: a single arm, single center, prospective phase 2 study. Am J Hematol. 2020;95(9):E235–8. https://doi.org/10.1002/ajh.25864.

Article  CAS  PubMed  Google Scholar 

Chang L, Lang M, Lin H, et al. Phase 2 study using low dose cytarabine for adult patients with newly diagnosed Langerhans cell histiocytosis. Leukemia. 2024;38(4):803–9. https://doi.org/10.1038/s41375-024-02174-1.

Article  CAS  PubMed  Google Scholar 

Duan MH, Han X, Li J, et al. Comparison of vindesine and prednisone and cyclophosphamide, etoposide, vindesine, and prednisone as first-line treatment for adult Langerhans cell histiocytosis: a single-center retrospective study. Leuk Res. 2016;42:43–6. https://doi.org/10.1016/j.leukres.2016.01.012.

Article  CAS  PubMed  Google Scholar 

Goyal G, Abeykoon JP, Hu M, et al. Single-agent cladribine as an effective front-line therapy for adults with Langerhans cell histiocytosis. Am J Hematol. 2021;96(5):E146–50. https://doi.org/10.1002/ajh.26119.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zinn DJ, Grimes AB, Lin H, et al. Hydroxyurea: a new old therapy for Langerhans cell histiocytosis. Blood. 2016;128(20):2462–5. https://doi.org/10.1182/blood-2016-06-721993.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sakamoto K, Kikuchi K, Sako M, et al. Pilot study to estimate the safety and effectiveness of hydroxyurea and methotrexate recurrent Langerhans cell histiocytosis (LCH-HU-pilot). Medicine (Baltimore). 2022;101(50): e31475. https://doi.org/10.1097/md.0000000000031475.

Article  CAS  PubMed  Google Scholar 

Goyal G, Shah MV, Call TG, et al. Clinical and radiologic responses to cladribine for the treatment of Erdheim-Chester disease. JAMA Oncol. 2017;3(9):1253–6. https://doi.org/10.1001/jamaoncol.2017.0041.

Article  PubMed  PubMed Central  Google Scholar 

Haroche J, Amoura Z, Trad SG, et al. Variability in the efficacy of interferon-alpha in Erdheim-Chester disease by patient and site of involvement: results in eight patients. Arthritis Rheum. 2006;54(10):3330–6. https://doi.org/10.1002/art.22165.

Article  CAS  PubMed  Google Scholar 

Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135(22):1929–45. https://doi.org/10.1182/blood.2019003507.

Article  CAS  PubMed  Google Scholar 

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. 2012;120(13):2700–3. https://doi.org/10.1182/blood-2012-05-430140.

Article  CAS  PubMed  Google Scholar 

Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116(11):1919–23. https://doi.org/10.1182/blood-2010-04-279083.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chakraborty R, Hampton OA, Shen X, et al. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014;124(19):3007–15. https://doi.org/10.1182/blood-2014-05-577825.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Durham BH, Lopez Rodrigo E, Picarsic J, et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. Nat Med. 2019;25(12):1839–42. https://doi.org/10.1038/s41591-019-0653-6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Berres ML, Lim KP, Peters T, et al. BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups. J Exp Med. 2014;211(4):669–83. https://doi.org/10.1084/jem.20130977.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen J, Zhao AL, Duan MH, et al. Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis. Leukemia. 2022;36(2):573–6. https://doi.org/10.1038/s41375-021-01439-3.

Article  CAS  PubMed  Google Scholar 

Brown NA, Furtado LV, Betz BL, et al. High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood. 2014;124(10):1655–8. https://doi.org/10.1182/blood-2014-05-577361.

Article  CAS  PubMed  Google Scholar 

Nelson DS, van Halteren A, Quispel WT, et al. MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer. 2015;54(6):361–8. https://doi.org/10.1002/gcc.22247.

Article  CAS  PubMed  Google Scholar 

Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135(16):1311–8. https://doi.org/10.1182/blood.2019002766.

Article  PubMed  Google Scholar 

Lee LH, Gasilina A, Roychoudhury J, et al. Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes. JCI Insight. 2017;2(3): e89473. https://doi.org/10.1172/jci.insight.89473.

Article  PubMed  PubMed Central  Google Scholar 

Mourah S, How-Kit A, Meignin V, et al. Recurrent NRAS mutations in pulmonary Langerhans cell histiocytosis. Eur Respir J. 2016;47(6):1785–96. https://doi.org/10.1183/13993003.01677-2015.

Article  CAS  PubMed  Google Scholar 

Nelson DS, Quispel W, Badalian-Very G, et al. Somatic activating ARAF mutations in Langerhans cell histiocytosis. Blood. 2014;123(20):3152–5. https://doi.org/10.1182/blood-2013-06-511139.

Article