BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

Journal of Clinical Oncology

Volumn 34, Issue 25, 2016, Pages 3023-3030

  Héritier, Sébastien ^a   Emile, Jean François ^a   Barkaoui, Mohamed Aziz ^a   Thomas, Caroline ^a   Fraitag, Sylvie ^a   Boudjemaa, Sabah ^a   Renaud, Florence ^a   Moreau, Anne ^a   Peuchmaur, Michel ^a   Chassagne Clément, Catherine ^a   Dijoud, Frédérique ^a   Rigau, Valérie ^a   Moshous, Despina ^a   Lambilliotte, Anne ^a   Mazingue, Françoise ^a   Kebaili, Kamila ^a   Miron, Jean ^a   Jeziorski, Eric ^a   Plat, Geneviève ^a   Aladjidi, Nathalie ^a   Ferster, Alina ^a   Pacquement, Hélène ^a   Galambrun, Claire ^a   Brugières, Laurence ^a   Leverger, Guy ^a   Mansuy, Ludovic ^a   Paillard, Catherine ^a   Deville, Anne ^a   Armari Alla, Corinne ^a   Lutun, Anne ^a   Gillibert Yvert, Marion ^a   Stephan, Jean Louis ^a   Cohen Aubart, Fleur ^a   Haroche, Julien ^a   Pellier, Isabelle ^a   Millot, Frédéric ^a   Lescoeur, Brigitte ^a   Gandemer, Virginie ^a   Bodemer, Christine ^a   Lacave, Roger ^a   Hélias Rodzewicz, Zofia ^a   Taly, Valérie ^a   Geissmann, Frédéric ^a   Donadieu, Jean ^a   more..

^a ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; C REACTIVE PROTEIN; CLADRIBINE; CYTARABINE; MERCAPTOPURINE; PREDNISOLONE; VINBLASTINE; ANTINEOPLASTIC AGENT; BRAF PROTEIN, HUMAN; CORTICOSTEROID;

ALLOGENIC BONE MARROW TRANSPLANTATION; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CORTICOSTEROID THERAPY; DISEASE SEVERITY; FEMALE; GENETIC ASSOCIATION; HEMOPHAGOCYTIC SYNDROME; HUMAN; HYPOPHYSIS DISEASE; LANGERHANS CELL HISTIOCYTOSIS; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SOMATIC MUTATION; TREATMENT RESPONSE; WILD TYPE; ADOLESCENT; ANTAGONISTS AND INHIBITORS; COHORT ANALYSIS; DRUG RESISTANCE; ENZYMOLOGY; FRANCE; GENETICS; HISTIOCYTOSIS, LANGERHANS-CELL; INFANT; MOLECULARLY TARGETED THERAPY; MUTATION; NEWBORN; PRESCHOOL CHILD; REGISTER;

ADOLESCENT; ADRENAL CORTEX HORMONES; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DRUG RESISTANCE, NEOPLASM; FEMALE; FRANCE; HISTIOCYTOSIS, LANGERHANS-CELL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR TARGETED THERAPY; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; REGISTRIES; VINBLASTINE;

EID: 84983565540     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2015.65.9508     Document Type: Article

References (31)

1. Haupt R, Minkov M, Astigarraga I, et al: Langerhans cell histiocytosis (LCH): Guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer 60: 175-184, 2013
2. Egeler RM, van Halteren AGS, Hogendoorn PCW, et al: Langerhans cell histiocytosis: Fascinating dynamics of the dendritic cell-macrophage lineage. Immunol Rev 234:213-232, 2010
3. Donadieu J, Bernard F, van Noesel M, et al: Cladribine and cytarabine in refractory multisystem Langerhans cell histiocytosis: Results of an international phase 2 study. Blood 126:1415-1423, 2015
4. Gadner H, Grois N, Pötschger U, et al: Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification. Blood 111: 2556-2562, 2008
5. Haupt R, Nanduri V, Calevo MG, et al: Permanent consequences in Langerhans cell histiocytosis patients: A pilot study from the Histiocyte Society-Late Effects Study Group. Pediatr Blood Cancer 42:438-444, 2004
6. The French Langerhans' Cell Histiocytosis Study Group: A multicentre retrospective survey of Langerhans' cell histiocytosis: 348 cases observed between 1983 and 1993. The French Langerhans' Cell Histiocytosis Study Group. . Arch Dis Child 75: 17-24, 1996
7. Berres M-L, Lim KPH, Peters T, et al: BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups. J Exp Med 211:669-683, 2014 [Erratum: J Exp Med 212:281, 2014]
8. Badalian-Very G, Vergilio J-A, Degar BA, et al: Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 116:1919-1923, 2010
9. Satoh T, Smith A, Sarde A, et al: B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS One 7:e33891, 2012 [Erratum: PLoS One doi:10.1371/annotation/74a67f4e-a536-4b3f-a350-9a4c1e6bebbd]
10. 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 120:2700-2703, 2012
11. Haroche J, Cohen-Aubart F, Emile J-F, et al: Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood 121:1495-1500, 2013
12. Héritier S, Jehanne M, Leverger G, et al: Vemurafenib use in an infant for high-risk Langerhans cell histiocytosis. JAMA Oncol 1:836-838, 2015
13. Guyot-Goubin A, Donadieu J, Barkaoui M, et al: Descriptive epidemiology of childhood Langerhans cell histiocytosis in France, 2000-2004. Pediatr Blood Cancer 51:71-75, 2008
14. Rigaud C, Barkaoui M-A, Thomas C, et al: Langerhans cell histiocytosis: Therapeutic strategy and outcome in a 30-year nationwide cohort of 1478 patients under 18 years of age. Br J Haematol (in press)
15. Donadieu J, Rolon M-A, Thomas C, et al: Endocrine involvement in pediatric-onset Langerhans' cell histiocytosis: A population-based study. J Pediatr 144:344-350, 2004
16. Donadieu J, Piguet C, Bernard F, et al: A new clinical score for disease activity in Langerhans cell histiocytosis. Pediatr Blood Cancer 43:770-776, 2004
17. Gadner H, Minkov M, Grois N, et al: Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis. Blood 121:5006-5014, 2013
18. Donadieu J, Chalard F, Jeziorski E: Medical management of Langerhans cell histiocytosis from diagnosis to treatment. Expert Opin Pharmacother 13:1309-1322, 2012
19. Moreau S, Saiag P, Aegerter P, et al: Prognostic value of BRAF(V) mutations in melanoma patients after resection of metastatic lymph nodes. Ann Surg Oncol 19:4314-4321, 2012
20. Pekin D, Skhiri Y, Baret J-C, et al: Quantitative and sensitive detection of rare mutations using droplet-based microfluidics. Lab Chip 11:2156-2166, 2011
21. Zunino-Goutorbe C, Eschard C, Durlach A, et al: Congenital solitary histiocytoma: A variant of Hashimoto-Pritzker histiocytosis. A retrospective study of 8 cases. Dermatology 216:118-124, 2008
22. Henter J-I, Horne A, Aricó M, et al: HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124-131, 2007
23. 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 124:3007-3015, 2014
24. Broadbent V: Favourable prognostic features in histiocytosis X: Bone involvement and absence of skin disease. Arch Dis Child 61:1219-1221, 1986
25. Nelson DS, Quispel W, Badalian-Very G, et al: Somatic activating ARAF mutations in Langerhans cell histiocytosis. Blood 123:3152-3155, 2014
26. Héritier S, Saffroy R, Radosevic-Robin N, et al: Common cancer-associated PIK3CA activating mutations rarely occur in Langerhans cell histiocytosis. Blood 125:2448-2449, 2015
27. Nelson DS, van Halteren A, Quispel WT, et al: MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer 54:361-368, 2015
28. Brown NA, Furtado LV, Betz BL, et al: High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood 124:1655-1658, 2014
29. Haroche J, Cohen-Aubart F, Emile J-F, et al: Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF (V600E)-mutated Erdheim-Chester disease. J Clin Oncol 33:411-418, 2015
30. Hyman DM, Diamond EL, Vibat CRT, et al: Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders. Cancer Discov 5:64-71, 2015
31. Kobayashi M, Tojo A: The BRAF-V600E mutation in circulating cell-free DNA is a promising biomarker of high-risk adult Langerhans cell histiocytosis. Blood 124:2610-2611, 2014