Molecular and clinicopathologic characterization of pediatric histiocytoses.
Journal
American journal of hematology
ISSN: 1096-8652
Titre abrégé: Am J Hematol
Pays: United States
ID NLM: 7610369
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
revised:
05
04
2023
received:
06
01
2023
accepted:
10
04
2023
medline:
14
6
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
ppublish
Résumé
The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF
Substances chimiques
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1058-1069Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2023 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.
Références
Emile J-F, Cohen-Aubart F, Collin M, et al. Histiocytosis. Lancet. 2021;398:157-170.
Emile J-F, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672-2681.
Badalian-Very G, Vergilio J-A, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116:1919-1923.
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. 2014;211:669-683.
Kemps PG, Zondag TC, Arnardóttir HB, et al. Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study. Blood Adv. 2022;7:664-679.
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;124:3007-3015.
Durham BH, Lopez Rodrigo E, Picarsic J, et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. Nat Med. 2019;25:1839-1842.
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:e89473.
Chakraborty R, Burke TM, Hampton OA, et al. Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis. Blood. 2016;128:2533-2537.
Héritier S, Hélias-Rodzewicz Z, Chakraborty R, et al. New somatic BRAF splicing mutation in Langerhans cell histiocytosis. Mol Cancer. 2017;16:115.
Diamond EL, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6:154-165.
Garces S, Medeiros LJ, Patel KP, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. Mod Pathol. 2017;30:1367-1377.
Héritier S, Emile J-F, Barkaoui M-A, et al. BRAF mutation correlates with high-risk Langerhans cell histiocytosis and increased resistance to first-line therapy. J Clin Oncol. 2016;34:3023-3030.
Héritier S, Barkaoui M-A, Miron J, et al. Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study. Br J Haematol. 2018;183:608-617.
Melloul S, Hélias-Rodzewicz Z, Cohen-Aubart F, et al. Highly sensitive methods are required to detect mutations in histiocytoses. Haematologica. 2019;104:e97-e99.
Rigaud C, Barkaoui MA, 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. 2016;174:887-898.
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. 2013;60:175-184.
Barkaoui M-A, Queheille E, Aladjidi N, et al. Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment. Br J Haematol. 2020;191:825-834.
Colomba E, Hélias-Rodzewicz Z, Von Deimling A, et al. Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing. J Mol Diagn. 2013;15:94-100.
Taly V, Pekin D, Benhaim L, et al. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Clin Chem. 2013;59:1722-1731.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-424.
Cohen Aubart F, Roos-Weil D, Armand M, et al. High frequency of clonal hematopoiesis in Erdheim-Chester disease. Blood. 2021;137:485-492.
Egan C, Nicolae A, Lack J, et al. Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups. Haematologica. 2020;105:951-960.
Egan C, Lack J, Skarshaug S, et al. The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy. Mod Pathol. 2021;34:336-347.
Satoh T, Smith A, Sarde A, et al. B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease. PLoS One. 2012;7:e33891.
Cho U, Oh WJ, Bae JS, et al. Clinicopathological features of rare BRAF mutations in Korean thyroid cancer patients. J Korean Med Sci. 2014;29:1054-1060.
Garg S, Grenier S, Misyura M, et al. Assessing the diagnostic yield of targeted next-generation sequencing for melanoma and gastrointestinal tumors. J Mol Diagn. 2020;22:467-475.
Mastropolo R, Close A, Allen SW, McClain KL, Maurer S, Picarsic J. BRAF-V600E-mutated Rosai-Dorfman-Destombes disease and Langerhans cell histiocytosis with response to BRAF inhibitor. Blood Adv. 2019;3:1848-1853.
Picarsic J, Pysher T, Zhou H, et al. BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. Acta Neuropathol Commun. 2019;7:168.
Techavichit P, Sosothikul D, Chaichana T, Teerapakpinyo C, Thorner PS, Shuangshoti S. BRAF V600E mutation in pediatric intracranial and cranial juvenile xanthogranuloma. Hum Pathol. 2017;69:118-122.
Kim S, Lee M, Shin HJ, Lee J, Suh Y-L. Coexistence of intracranial Langerhans cell histiocytosis and Erdheim-Chester disease in a pediatric patient: a case report. Childs Nerv Syst. 2016;32:893-896.
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. 2018;23:48-53.
Ocak S, Bayramoglu Z, Tugcu D, Karaman S, Unuvar A, Karakas Z. Mixed Langerhans cell histiocytosis and Erdheim-Chester disease in a girl: a rare and puzzling diagnosis. J Pediatr Hematol Oncol. 2021;43:e375-e379.
Gao Y, Chang MT, McKay D, et al. Allele-specific mechanisms of activation of MEK1 mutants determine their properties. Cancer Discov. 2018;8:648-661.
Suryaprakash S, George A, Langenburg S, Savaşan S. Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations. Ann Hematol. 2020;99:2965-2967.
Cohen-Aubart F, Ungureanu I, Razanamahery J, et al. Peritoneal or mesenteric tumours revealing histiocytosis. BMJ Open Gastroenterol. 2021;8:e000622.
Ozer E, Sevinc A, Ince D, Yuzuguldu R, Olgun N. BRAF V600E mutation: a significant biomarker for prediction of disease relapse in pediatric Langerhans cell histiocytosis. Pediatr Dev Pathol. 2019;22:449-455.
Tang X, Gao J, Ma Z-G, et al. Clinical and prognostic characteristics of 95 cases of Langerhans cell histiocytosis in children: a single-institute experience from 2013 to 2020. Ann Med. 2021;53:1537-1546.
Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, et al. The importance of considering monogenic causes of autoimmunity: a somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus. Clin Immunol. 2017;175:143-146.
Tóth B, Kiss N, Hársing J, et al. Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis. Virchows Arch. 2020;477:749-753.
Shanmugam V, Griffin GK, Jacobsen ED, Fletcher CDM, Sholl LM, Hornick JL. Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma. Mod Pathol. 2019;32:830-843.
Lee PSW. The Cbl protooncoprotein stimulates CSF-1 receptor multiubiquitination and endocytosis, and attenuates macrophage proliferation. EMBO J. 1999;18:3616-3628. doi:10.1093/emboj/18.13.3616
Wilhelmsen K, Burkhalter S, van der Geer P. C-Cbl binds the CSF-1 receptor at tyrosine 973, a novel phosphorylation site in the receptor's carboxy-terminus. Oncogene. 2002;21:1079-1089. https://www.nature.com/articles/1205166.
Bhatia P, Singh M, Sharma M, et al. BRAF V600E mutation in childhood Langerhans cell histiocytosis correlates with multisystem disease and poor survival. Blood Cells Mol Dis. 2020;82:102356.
Donadieu J, Larabi IA, Tardieu M, et al. Vemurafenib for refractory multisystem Langerhans cell histiocytosis in children: an International Observational Study. J Clin Oncol. 2019;37:2857-2865.
Kemps PG, Picarsic J, Durham BH, et al. ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition. Blood. 2022;139:256-280.