Advancements in the understanding and management of histiocytic neoplasms.
Erdheim-Chester disease
Genetic mutation
Histiocytic
Juvenile xanthogranuloma
Langerhans cell histiocytosis
Neoplasms
Rosai-Dorfman disease
Journal
Blood research
ISSN: 2287-979X
Titre abrégé: Blood Res
Pays: Switzerland
ID NLM: 101605247
Informations de publication
Date de publication:
04 Jul 2024
04 Jul 2024
Historique:
received:
30
01
2024
accepted:
12
06
2024
medline:
4
7
2024
pubmed:
4
7
2024
entrez:
4
7
2024
Statut:
epublish
Résumé
Histiocytic neoplasms are rare diseases involving macrophages, dendritic cells, and monocytes. They include Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and histiocytic sarcoma. Histiocytic neoplasms are characterized by varied clinical courses and prognoses, necessitating a nuanced understanding of their classification, epidemiology, and clinical manifestations. Genetic studies have revealed somatic mutations, predominantly in the MAPK pathway, suggesting a clonal neoplastic nature. This review covers the current understanding of histiocytic neoplasms, molecular pathophysiology, with a particular focus on mutations in genes such as BRAF, MAP2K1, and the PI3K-AKT signaling pathways, and evolving treatment strategies, especially focusing on LCH, ECD, RDD, and JXG. The treatment landscape has evolved with advancements in targeted therapies. BRAF inhibitors, such as vemurafenib and dabrafenib, have shown efficacy, especially in high-risk LCH cases; however, challenges remain, including relapse post-treatment discontinuation, and adverse effects. MEK inhibitors have also demonstrated effectiveness, and cobimetinib has recently been approved for use in adults. Further research is required to determine the optimal treatment duration and strategies for managing therapy interruptions. Advancements in molecular genetics and targeted therapies have revolutionized the management of histiocytic neoplasms. However, ongoing research is crucial for optimizing patient outcomes.
Identifiants
pubmed: 38963520
doi: 10.1007/s44313-024-00022-w
pii: 10.1007/s44313-024-00022-w
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
22Subventions
Organisme : Korea Disease Control and Prevention Agency
ID : 2019ER690301, 2022ER050200
Organisme : Korea Disease Control and Prevention Agency
ID : 2019ER690301, 2022ER050200
Organisme : Korea Disease Control and Prevention Agency
ID : 2019ER690301, 2022ER050200
Organisme : Korea Disease Control and Prevention Agency
ID : 2019ER690301, 2022ER050200
Organisme : Korea Disease Control and Prevention Agency
ID : 2019ER690301, 2022ER050200
Informations de copyright
© 2024. The Author(s).
Références
Emile JF, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672–81.
doi: 10.1182/blood-2016-01-690636
pubmed: 26966089
pmcid: 5161007
Go RS, Jacobsen E, Baiocchi R, et al. Histiocytic neoplasms, version 2.2021, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2021;19:1277–303.
doi: 10.6004/jnccn.2021.0053
pubmed: 34781268
Durham BH. Molecular characterization of the histiocytoses: neoplasia of dendritic cells and macrophages. Semin Cell Dev Biol. 2019;86:62–76.
doi: 10.1016/j.semcdb.2018.03.002
pubmed: 29526544
Suh JK, Kang S, Kim H, Im HJ, Koh KN. Recent advances in the understanding of the molecular pathogenesis and targeted therapy options in Langerhans cell histiocytosis. Blood Res. 2021;56:S65–9.
doi: 10.5045/br.2021.2021013
pubmed: 33935037
Kemps PG, Hebeda KM, Pals ST, et al. Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation. J Pathol Clin Res. 2021;7:10–26.
doi: 10.1002/cjp2.177
pubmed: 32852896
Durham BH, Diamond EL, Abdel-Wahab O. Histiocytic neoplasms in the era of personalized genomic medicine. Curr Opin Hematol. 2016;23:416–25.
doi: 10.1097/MOH.0000000000000256
pubmed: 27101528
pmcid: 5112586
Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19.
doi: 10.1038/s41375-022-01613-1
pubmed: 35732831
pmcid: 9252913
Writing Group of the Histiocyte Society. Histiocytosis syndromes in children. Lancet. 1987;1:208–9.
Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929–45.
doi: 10.1182/blood.2019003507
pubmed: 32187362
Diamond EL, Dagna L, Hyman DM, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483–92.
doi: 10.1182/blood-2014-03-561381
pubmed: 24850756
pmcid: 4110656
Minkov M. The, “rare” or “non-LCH” histiocytic disorders in childhood: a brief overview. Iran J Blood Cancer. 2018;10:101–7.
Haroche J, Abla O. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. Hematol Am Soc Hematol Educ Program. 2015;2015:571–8.
doi: 10.1182/asheducation-2015.1.571
Foucar E, Rosai J, Dorfman R. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): review of the entity. Semin Diagn Pathol. 1990;7:19–73.
pubmed: 2180012
Rollins BJ. Genomic alterations in Langerhans cell histiocytosis. Hematol Oncol Clin North Am. 2015;29:839–51.
doi: 10.1016/j.hoc.2015.06.004
pubmed: 26461146
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;120:2700–3.
doi: 10.1182/blood-2012-05-430140
pubmed: 22879539
Chakraborty R, Burke TM, Hampton OA, et al. Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis. Blood. 2016;128:2533–7.
doi: 10.1182/blood-2016-08-733790
pubmed: 27729324
pmcid: 5123197
Nelson DS, van Halteren A, Quispel WT, et al. MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer. 2015;54:361–8.
doi: 10.1002/gcc.22247
pubmed: 25899310
Alayed K, Medeiros LJ, Patel KP, et al. BRAF and MAP2K1 mutations in Langerhans cell histiocytosis: a study of 50 cases. Hum Pathol. 2016;52:61–7.
doi: 10.1016/j.humpath.2015.12.029
pubmed: 26980021
Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116:1919–23.
doi: 10.1182/blood-2010-04-279083
pubmed: 20519626
pmcid: 3173987
Kordes M, Roring M, Heining C, et al. Cooperation of BRAF(F595L) and mutant HRAS in histiocytic sarcoma provides new insights into oncogenic BRAF signaling. Leukemia. 2016;30:937–46.
doi: 10.1038/leu.2015.319
pubmed: 26582644
Xu J, Huang X, Wen Y, et al. Systemic juvenile xanthogranuloma has a higher frequency of ALK translocations than BRAFV600E mutations. J Am Acad Dermatol. 2023;88:656–9.
doi: 10.1016/j.jaad.2020.08.053
pubmed: 32822792
Gao XM, Li J, Cao XX. Signaling pathways, microenvironment, and targeted treatments in Langerhans cell histiocytosis. Cell Commun Signal. 2022;20:195.
doi: 10.1186/s12964-022-00917-0
pubmed: 36536400
pmcid: 9764551
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.
doi: 10.1371/journal.pone.0033891
pubmed: 22506009
pmcid: 3323620
Brown NA, Furtado LV, Betz BL, et al. High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood. 2014;124:1655–8.
doi: 10.1182/blood-2014-05-577361
pubmed: 24982505
Diamond EL, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6:154–65.
doi: 10.1158/2159-8290.CD-15-0913
pubmed: 26566875
Kemps PG, Zondag TCE, Arnardottir HB, et al. Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study. Blood Adv. 2023;7:664–79.
doi: 10.1182/bloodadvances.2022007947
pubmed: 36083130
Emile JF, Diamond EL, Helias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016–9.
doi: 10.1182/blood-2014-04-570937
pubmed: 25150293
pmcid: 4224196
Diamond EL, Abdel-Wahab O, Pentsova E, et al. Detection of an NRAS mutation in Erdheim-Chester disease. Blood. 2013;122:1089–91.
doi: 10.1182/blood-2013-02-482984
pubmed: 23929840
Pai P, Nirmal A, Mathias L, et al. Molecular mutations in histiocytosis: a comprehensive survey of genetic alterations. Mol Biotechnol. 2024. https://pubmed.ncbi.nlm.nih.gov/38376733/ .
Chan JK, Lamant L, Algar E, et al. ALK+ histiocytosis: a novel type of systemic histiocytic proliferative disorder of early infancy. Blood. 2008;112:2965–8.
doi: 10.1182/blood-2008-03-147017
pubmed: 18660380
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;139:256–80.
doi: 10.1182/blood.2021013338
pubmed: 34727172
pmcid: 8759533
Yoon SH, Kang SH, Kim H, et al. Successful treatment of relapsed disseminated juvenile xanthogranuloma with central nervous system involvement. Clin Pediatr Hematol Oncol. 2024;31. Online ahead of print.
Koh YK, Yoon SH, Kang SH, et al. Improvement of neurodegenerative disease after use of vemurafenib in refractory BRAF V600E-mutated Langerhans cell histiocytosis: a case report. Clin Pediatr Hematol Oncol. 2022;29:97–101.
doi: 10.15264/cpho.2022.29.2.97
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;37:2857–65.
doi: 10.1200/JCO.19.00456
pubmed: 31513482
pmcid: 6823889
Yang Y, Wang D, Cui L, et al. Effectiveness and safety of dabrafenib in the treatment of 20 Chinese children with BRAFV600E-mutated Langerhans cell histiocytosis. Cancer Res Treat. 2021;53:261–9.
doi: 10.4143/crt.2020.769
pubmed: 32972045
Collin M. Histiocytic neoplasms: going, going, but not quite gone. Br J Haematol. 2023;203:347–8.
doi: 10.1111/bjh.19014
pubmed: 37592718
Diamond EL, Durham BH, Ulaner GA, et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature. 2019;567:521–4.
doi: 10.1038/s41586-019-1012-y
pubmed: 30867592
pmcid: 6438729
Reiner AS, Durham BH, Yabe M, et al. Outcomes after interruption of targeted therapy in patients with histiocytic neoplasms. Br J Haematol. 2023;203:389–94.
doi: 10.1111/bjh.18964
pubmed: 37400251
Friedman JS, Durham BH, Reiner AS, et al. Mixed histiocytic neoplasms: a multicentre series revealing diverse somatic mutations and responses to targeted therapy. Br J Haematol. 2024. https://pubmed.ncbi.nlm.nih.gov/38613141/ .
Cohen Aubart F, Emile JF, Maksud P, et al. Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease. Br J Haematol. 2018;180:150–3.
doi: 10.1111/bjh.14284
pubmed: 27711968
Durham BH, Hershkovitz-Rokah O, Abdel-Wahab O, et al. Mutant PIK3CA is a targetable driver alteration in histiocytic neoplasms. Blood Adv. 2023;7:7319–28.
doi: 10.1182/bloodadvances.2022009349
pubmed: 37874915
pmcid: 10711187