Pathologic characteristics of histiocytic and dendritic cell neoplasms.

Histiocytic and dendritic cell neoplasms Histiocytosis Immunophenotyping Molecular genetics Mononuclear phagocyte system

Journal

Blood research
ISSN: 2287-979X
Titre abrégé: Blood Res
Pays: Switzerland
ID NLM: 101605247

Informations de publication

Date de publication:
07 May 2024
Historique:
received: 19 01 2024
accepted: 05 04 2024
medline: 7 5 2024
pubmed: 7 5 2024
entrez: 7 5 2024
Statut: epublish

Résumé

Histiocytic and dendritic cell neoplasms comprise diverse tumors originating from the mononuclear phagocytic system, which includes monocytes, macrophages, and dendritic cells. The 5th edition of the World Health Organization (WHO) classification updating the categorization of these tumors, reflecting a deeper understanding of their pathogenesis.In this updated classification system, tumors are categorized as Langerhans cell and other dendritic cell neoplasms, histiocyte/macrophage neoplasms, and plasmacytoid dendritic cell neoplasms. Follicular dendritic cell neoplasms are classified as mesenchymal dendritic cell neoplasms within the stroma-derived neoplasms of lymphoid tissues.Each subtype of histiocytic and dendritic cell neoplasms exhibits distinct morphological characteristics. They also show a characteristic immunophenotypic profile marked by various markers such as CD1a, CD207/langerin, S100, CD68, CD163, CD4, CD123, CD21, CD23, CD35, and ALK, and hematolymphoid markers such as CD45 and CD43. In situ hybridization for EBV-encoded small RNA (EBER) identifies a particular subtype. Immunoprofiling plays a critical role in determining the cell of origin and identifying the specific subtype of tumors. There are frequent genomic alterations in these neoplasms, especially in the mitogen-activated protein kinase pathway, including BRAF (notably BRAF V600E), MAP2K1, KRAS, and NRAS mutations, and ALK gene translocation.This review aims to offer a comprehensive and updated overview of histiocytic and dendritic cell neoplasms, focusing on their ontogeny, morphological aspects, immunophenotypic profiles, and molecular genetics. This comprehensive approach is essential for accurately differentiating and classifying neoplasms according to the updated WHO classification.

Identifiants

pubmed: 38713245
doi: 10.1007/s44313-024-00015-9
pii: 10.1007/s44313-024-00015-9
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

18

Subventions

Organisme : National Research Foundation of Korea grant funded by the Korean government (Ministry of Science and ICT)
ID : No. NRF-2019R1A2C1002370

Informations de copyright

© 2024. The Author(s).

Références

Swerdlow SH, International Agency for Research on Cancer, World Health Organization. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon, France: International Agency for Research on Cancer; 2008.
Swerdlow SH, World Health Organization, International Agency for Research on Cancer. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: International Agency for Research on Cancer; 2017.
Chan J, World Health Organization, International Agency for Research on Cancer. WHO classification of tumours. Hematolymphoid tumors. 5th ed. Lyon, France: International Agency for Research on Cancer; 2022.
Emile JF, Cohen-Aubart F, Collin M, et al. Histiocytosis. Lancet. 2021;398(10295):157–70. https://doi.org/10.1016/S0140-6736(21)00311-1 .
doi: 10.1016/S0140-6736(21)00311-1 pubmed: 33901419 pmcid: 9364113
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 .
doi: 10.1182/blood-2016-01-690636 pubmed: 26966089 pmcid: 5161007
McClain KL, Bigenwald C, Collin M, et al. Histiocytic disorders. Nat Rev Dis Primers. 2021;7(1):73. https://doi.org/10.1038/s41572-021-00307-9 .
doi: 10.1038/s41572-021-00307-9 pubmed: 34620874 pmcid: 10031765
Guilliams M, Ginhoux F, Jakubzick C, et al. Dendritic cells, monocytes and macrophages: a unified nomenclature based on ontogeny. Nat Rev Immunol. 2014;14(8):571–8. https://doi.org/10.1038/nri3712 .
doi: 10.1038/nri3712 pubmed: 25033907 pmcid: 4638219
Sreejit G, Fleetwood AJ, Murphy AJ, Nagareddy PR. Origins and diversity of macrophages in health and disease. Clin Transl Immunol. 2020;9(12):e1222. https://doi.org/10.1002/cti2.1222 .
doi: 10.1002/cti2.1222
Hume DA, Irvine KM, Pridans C. The mononuclear phagocyte system: the relationship between monocytes and macrophages. Trends Immunol. 2019;40(2):98–112. https://doi.org/10.1016/j.it.2018.11.007 .
doi: 10.1016/j.it.2018.11.007 pubmed: 30579704
Jenkins SJ, Hume DA. Homeostasis in the mononuclear phagocyte system. Trends Immunol. 2014;35(8):358–67. https://doi.org/10.1016/j.it.2014.06.006 .
doi: 10.1016/j.it.2014.06.006 pubmed: 25047416
Germic N, Frangez Z, Yousefi S, Simon HU. Regulation of the innate immune system by autophagy: monocytes, macrophages, dendritic cells and antigen presentation. Cell Death Differ. 2019;26(4):715–27. https://doi.org/10.1038/s41418-019-0297-6 .
doi: 10.1038/s41418-019-0297-6 pubmed: 30737475 pmcid: 6460400
Auffray C, Sieweke MH, Geissmann F. Blood monocytes: development, heterogeneity, and relationship with dendritic cells. Annu Rev Immunol. 2009;27:669–92. https://doi.org/10.1146/annurev.immunol.021908.132557 .
doi: 10.1146/annurev.immunol.021908.132557 pubmed: 19132917
Collin M, McGovern N, Haniffa M. Human dendritic cell subsets. Immunology. 2013;140(1):22–30. https://doi.org/10.1111/imm.12117 .
doi: 10.1111/imm.12117 pubmed: 23621371 pmcid: 3809702
Sichien D, Lambrecht BN, Guilliams M, Scott CL. Development of conventional dendritic cells: from common bone marrow progenitors to multiple subsets in peripheral tissues. Mucosal Immunol. 2017;10(4):831–44. https://doi.org/10.1038/mi.2017.8 .
doi: 10.1038/mi.2017.8 pubmed: 28198365
Musumeci A, Lutz K, Winheim E, Krug AB. What makes a pDC: recent advances in understanding Plasmacytoid DC development and heterogeneity. Front Immunol. 2019;10:1222. https://doi.org/10.3389/fimmu.2019.01222 .
doi: 10.3389/fimmu.2019.01222 pubmed: 31191558 pmcid: 6548821
Rodrigues PF, Tussiwand R. Novel concepts in plasmacytoid dendritic cell (pDC) development and differentiation. Mol Immunol. 2020;126:25–30. https://doi.org/10.1016/j.molimm.2020.07.006 .
doi: 10.1016/j.molimm.2020.07.006 pubmed: 32739721
van Nierop K, de Groot C. Human follicular dendritic cells: function, origin and development. Semin Immunol. 2002;14(4):251–7. https://doi.org/10.1016/s1044-5323(02)00057-x .
doi: 10.1016/s1044-5323(02)00057-x pubmed: 12163300
Jarjour M, Jorquera A, Mondor I, et al. Fate mapping reveals origin and dynamics of lymph node follicular dendritic cells. J Exp Med. 2014;211(6):1109–22. https://doi.org/10.1084/jem.20132409 .
doi: 10.1084/jem.20132409 pubmed: 24863064 pmcid: 4042641
Krautler NJ, Kana V, Kranich J, et al. Follicular dendritic cells emerge from ubiquitous perivascular precursors. Cell. 2012;150(1):194–206. https://doi.org/10.1016/j.cell.2012.05.032 .
doi: 10.1016/j.cell.2012.05.032 pubmed: 22770220 pmcid: 3704230
Aguzzi A, Kranich J, Krautler NJ. Follicular dendritic cells: origin, phenotype, and function in health and disease. Trends Immunol. 2014;35(3):105–13. https://doi.org/10.1016/j.it.2013.11.001 .
doi: 10.1016/j.it.2013.11.001 pubmed: 24315719
D’Rozario J, Knoblich K, Lutge M, et al. Fibroblastic reticular cells provide a supportive niche for lymph node-resident macrophages. Eur J Immunol. 2023;53(9):e2250355. https://doi.org/10.1002/eji.202250355 .
doi: 10.1002/eji.202250355 pubmed: 36991561
Li L, Wu J, Abdi R, Jewell CM, Bromberg JS. Lymph node fibroblastic reticular cells steer immune responses. Trends Immunol. 2021;42(8):723–34. https://doi.org/10.1016/j.it.2021.06.006 .
doi: 10.1016/j.it.2021.06.006 pubmed: 34256989 pmcid: 8324561
Grois N, Fahrner B, Arceci RJ, et al. Central nervous system disease in Langerhans cell histiocytosis. J Pediatr. 2010;156(6):873-881 e871. https://doi.org/10.1016/j.jpeds.2010.03.001 .
doi: 10.1016/j.jpeds.2010.03.001 pubmed: 20434166
Grois N, Prayer D, Prosch H, Lassmann H, Group CLC-o. Neuropathology of CNS disease in Langerhans cell histiocytosis. Brain. 2005;128(Pt 4):829–38. https://doi.org/10.1093/brain/awh403 .
doi: 10.1093/brain/awh403 pubmed: 15705614
McClain KL, Picarsic J, Chakraborty R, et al. CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH-associated neurodegeneration and mass lesions. Cancer. 2018;124(12):2607–20. https://doi.org/10.1002/cncr.31348 .
doi: 10.1002/cncr.31348 pubmed: 29624648
Phan TDA, Phung BG, Duong TT, et al. A study of pathological characteristics and BRAF V600E status in Langerhans cell histiocytosis of Vietnamese children. J Pathol Transl Med. 2021;55(2):112–7. https://doi.org/10.4132/jptm.2020.11.30 .
doi: 10.4132/jptm.2020.11.30 pubmed: 33494131 pmcid: 7987525
Shao H, Xi L, Raffeld M, et al. Clonally related histiocytic/dendritic cell sarcoma and chronic lymphocytic leukemia/small lymphocytic lymphoma: a study of seven cases. Mod Pathol. 2011;24(11):1421–32. https://doi.org/10.1038/modpathol.2011.102 .
doi: 10.1038/modpathol.2011.102 pubmed: 21666687 pmcid: 3175277
West DS, Dogan A, Quint PS, et al. Clonally related follicular lymphomas and Langerhans cell neoplasms: expanding the spectrum of transdifferentiation. Am J Surg Pathol. 2013;37(7):978–86. https://doi.org/10.1097/PAS.0b013e318283099f .
doi: 10.1097/PAS.0b013e318283099f pubmed: 23759932
Rezk SA, Spagnolo DV, Brynes RK, Weiss LM. Indeterminate cell tumor: a rare dendritic neoplasm. Am J Surg Pathol. 2008;32(12):1868–76. https://doi.org/10.1097/PAS.0b013e31818593d6 .
doi: 10.1097/PAS.0b013e31818593d6 pubmed: 18813122
Joo JW, Chung T, Cho YA, Kim SK. Recurrent indeterminate dendritic cell tumor of the skin. J Pathol Transl Med. 2018;52(4):243–7. https://doi.org/10.4132/jptm.2018.03.27 .
doi: 10.4132/jptm.2018.03.27 pubmed: 29621879 pmcid: 6056357
Xue T, Jiang XN, Wang WG, Zhou XY, Li XQ. Interdigitating dendritic cell sarcoma: clinicopathologic study of 8 cases with review of the literature. Ann Diagn Pathol. 2018;34:155–60. https://doi.org/10.1016/j.anndiagpath.2018.03.008 .
doi: 10.1016/j.anndiagpath.2018.03.008 pubmed: 29660568
Dehner LP. Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. Am J Surg Pathol. 2003;27(5):579–93. https://doi.org/10.1097/00000478-200305000-00003 .
doi: 10.1097/00000478-200305000-00003 pubmed: 12717244
Chang KTE, Tay AZE, Kuick CH, et al. ALK-positive histiocytosis: an expanded clinicopathologic spectrum and frequent presence of KIF5B-ALK fusion. Mod Pathol. 2019;32(5):598–608. https://doi.org/10.1038/s41379-018-0168-6 .
doi: 10.1038/s41379-018-0168-6 pubmed: 30573850
Ozkaya N, Rosenblum MK, Durham BH, et al. The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. Mod Pathol. 2018;31(4):581–97. https://doi.org/10.1038/modpathol.2017.160 .
doi: 10.1038/modpathol.2017.160 pubmed: 29192649
Abla O, Jacobsen E, Picarsic J, et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood. 2018;131(26):2877–90. https://doi.org/10.1182/blood-2018-03-839753 .
doi: 10.1182/blood-2018-03-839753 pubmed: 29720485 pmcid: 6024636
Menon MP, Evbuomwan MO, Rosai J, Jaffe ES, Pittaluga S. A subset of Rosai-Dorfman disease cases show increased IgG4-positive plasma cells: another red herring or a true association with IgG4-related disease? Histopathology. 2014;64(3):455–9. https://doi.org/10.1111/his.12274 .
doi: 10.1111/his.12274 pubmed: 24215263
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(2):256–80. https://doi.org/10.1182/blood.2021013338 .
doi: 10.1182/blood.2021013338 pubmed: 34727172 pmcid: 8759533
Lucas N, Duchmann M, Rameau P, et al. Biology and prognostic impact of clonal plasmacytoid dendritic cells in chronic myelomonocytic leukemia. Leukemia. 2019;33(10):2466–80. https://doi.org/10.1038/s41375-019-0447-3 .
doi: 10.1038/s41375-019-0447-3 pubmed: 30894665
Xiao W, Chan A, Waarts MR, et al. Plasmacytoid dendritic cell expansion defines a distinct subset of RUNX1-mutated acute myeloid leukemia. Blood. 2021;137(10):1377–91. https://doi.org/10.1182/blood.2020007897 .
doi: 10.1182/blood.2020007897 pubmed: 32871587 pmcid: 7955409
Zalmai L, Viailly PJ, Biichle S, et al. Plasmacytoid dendritic cells proliferation associated with acute myeloid leukemia: phenotype profile and mutation landscape. Haematologica. 2021;106(12):3056–66. https://doi.org/10.3324/haematol.2020.253740 .
doi: 10.3324/haematol.2020.253740 pubmed: 33054115
Cota C, Vale E, Viana I, et al. Cutaneous manifestations of blastic plasmacytoid dendritic cell neoplasm-morphologic and phenotypic variability in a series of 33 patients. Am J Surg Pathol. 2010;34(1):75–87. https://doi.org/10.1097/PAS.0b013e3181c5e26b .
doi: 10.1097/PAS.0b013e3181c5e26b pubmed: 19956058
Wu A, Pullarkat S. Follicular dendritic cell sarcoma. Arch Pathol Lab Med. 2016;140(2):186–90. https://doi.org/10.5858/arpa.2014-0374-RS .
doi: 10.5858/arpa.2014-0374-RS pubmed: 26910224
Van Baeten C, Van Dorpe J. Splenic Epstein-Barr Virus-associated inflammatory Pseudotumor. Arch Pathol Lab Med. 2017;141(5):722–7. https://doi.org/10.5858/arpa.2016-0283-RS .
doi: 10.5858/arpa.2016-0283-RS pubmed: 28447898
Andriko JW, Kaldjian EP, Tsokos M, Abbondanzo SL, Jaffe ES. Reticulum cell neoplasms of lymph nodes: a clinicopathologic study of 11 cases with recognition of a new subtype derived from fibroblastic reticular cells. Am J Surg Pathol. 1998;22(9):1048–58. https://doi.org/10.1097/00000478-199809000-00002 .
doi: 10.1097/00000478-199809000-00002 pubmed: 9737236
Pileri SA, Grogan TM, Harris NL, et al. Tumours of histiocytes and accessory dendritic cells: an immunohistochemical approach to classification from the International lymphoma study group based on 61 cases. Histopathology. 2002;41(1):1–29. https://doi.org/10.1046/j.1365-2559.2002.01418.x .
doi: 10.1046/j.1365-2559.2002.01418.x pubmed: 12121233
Allen CE, Merad M, McClain KL. Langerhans-cell histiocytosis. N Engl J Med. 2018;379(9):856–68. https://doi.org/10.1056/NEJMra1607548 .
doi: 10.1056/NEJMra1607548 pubmed: 30157397 pmcid: 6334777
Shanmugam V, Craig JW, Hornick JL, Morgan EA, Pinkus GS, Pozdnyakova O. Cyclin D1 Is expressed in neoplastic cells of langerhans cell histiocytosis but not reactive langerhans cell proliferations. Am J Surg Pathol. 2017;41(10):1390–6. https://doi.org/10.1097/PAS.0000000000000897 .
doi: 10.1097/PAS.0000000000000897 pubmed: 28622183
Sahm F, Capper D, Preusser M, et al. BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis. Blood. 2012;120(12):e28-34. https://doi.org/10.1182/blood-2012-06-429597 .
doi: 10.1182/blood-2012-06-429597 pubmed: 22859608
Valladeau J, Ravel O, Dezutter-Dambuyant C, et al. Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. Immunity. 2000;12(1):71–81. https://doi.org/10.1016/s1074-7613(00)80160-0 .
doi: 10.1016/s1074-7613(00)80160-0 pubmed: 10661407
Sung YE, Lee YS, Lee J, Lee KY. Erdheim-Chester disease involving lymph nodes and liver clinically mimicking lymphoma: a case report. J Pathol Transl Med. 2018;52(3):183–90. https://doi.org/10.4132/jptm.2017.10.16 .
doi: 10.4132/jptm.2017.10.16 pubmed: 29281781
Ravindran A, Goyal G, Go RS, Rech KL, Mayo Clinic Histiocytosis Working G. Rosai-Dorfman disease displays a unique monocyte-macrophage phenotype characterized by expression of OCT2. Am J Surg Pathol. 2021;45(1):35–44. https://doi.org/10.1097/PAS.0000000000001617 .
doi: 10.1097/PAS.0000000000001617 pubmed: 33177341
Garces S, Medeiros LJ, Patel KP, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. Mod Pathol. 2017;30(10):1367–77. https://doi.org/10.1038/modpathol.2017.55 .
doi: 10.1038/modpathol.2017.55 pubmed: 28664935 pmcid: 5837474
Julia F, Dalle S, Duru G, et al. Blastic plasmacytoid dendritic cell neoplasms: clinico-immunohistochemical correlations in a series of 91 patients. Am J Surg Pathol. 2014;38(5):673–80. https://doi.org/10.1097/PAS.0000000000000156 .
doi: 10.1097/PAS.0000000000000156 pubmed: 24441662
Lee YJ, Kim Y, Park SH, Jo JC. Plasmacytoid dendritic cell neoplasms. Blood Res. 2023;58(S1):90–5. https://doi.org/10.5045/br.2023.2023052 .
doi: 10.5045/br.2023.2023052 pubmed: 37105563
Facchetti F, Cigognetti M, Fisogni S, Rossi G, Lonardi S, Vermi W. Neoplasms derived from plasmacytoid dendritic cells. Mod Pathol. 2016;29(2):98–111. https://doi.org/10.1038/modpathol.2015.145 .
doi: 10.1038/modpathol.2015.145 pubmed: 26743477
Sukswai N, Aung PP, Yin CC, et al. Dual expression of TCF4 and CD123 is highly sensitive and specific for blastic plasmacytoid dendritic cell neoplasm. Am J Surg Pathol. 2019;43(10):1429–37. https://doi.org/10.1097/PAS.0000000000001316 .
doi: 10.1097/PAS.0000000000001316 pubmed: 31261288
Wang W, Khoury JD, Miranda RN, et al. Immunophenotypic characterization of reactive and neoplastic plasmacytoid dendritic cells permits establishment of a 10-color flow cytometric panel for initial workup and residual disease evaluation of blastic plasmacytoid dendritic cell neoplasm. Haematologica. 2021;106(4):1047–55. https://doi.org/10.3324/haematol.2020.247569 .
doi: 10.3324/haematol.2020.247569 pubmed: 32241840
Grogg KL, Lae ME, Kurtin PJ, Macon WR. Clusterin expression distinguishes follicular dendritic cell tumors from other dendritic cell neoplasms: report of a novel follicular dendritic cell marker and clinicopathologic data on 12 additional follicular dendritic cell tumors and 6 additional interdigitating dendritic cell tumors. Am J Surg Pathol. 2004;28(8):988–98. https://doi.org/10.1097/01.pas.0000112536.76973.7f .
doi: 10.1097/01.pas.0000112536.76973.7f pubmed: 15252304
Pan ST, Cheng CY, Lee NS, Liang PI, Chuang SS. Follicular Dendritic cell Sarcoma of the inflammatory Pseudotumor-like variant presenting as a Colonic Polyp. Kor J Pathol. 2014;48(2):140–5. https://doi.org/10.4132/KoreanJPathol.2014.48.2.140 .
doi: 10.4132/KoreanJPathol.2014.48.2.140
Emile JF, Diamond EL, Helias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124(19):3016–9. https://doi.org/10.1182/blood-2014-04-570937 .
doi: 10.1182/blood-2014-04-570937 pubmed: 25150293 pmcid: 4224196
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 .
doi: 10.1182/blood-2012-05-430140 pubmed: 22879539
Diamond EL, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2016;6(2):154–65. https://doi.org/10.1158/2159-8290.CD-15-0913 .
doi: 10.1158/2159-8290.CD-15-0913 pubmed: 26566875
O’Malley DP, Agrawal R, Grimm KE, et al. Evidence of BRAF V600E in indeterminate cell tumor and interdigitating dendritic cell sarcoma. Ann Diagn Pathol. 2015;19(3):113–6. https://doi.org/10.1016/j.anndiagpath.2015.02.008 .
doi: 10.1016/j.anndiagpath.2015.02.008 pubmed: 25787243
Hervier B, Haroche J, Arnaud L, et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood. 2014;124(7):1119–26. https://doi.org/10.1182/blood-2013-12-543793 .
doi: 10.1182/blood-2013-12-543793 pubmed: 24894769
Chakraborty R, Burke TM, Hampton OA, et al. Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis. Blood. 2016;128(21):2533–7. https://doi.org/10.1182/blood-2016-08-733790 .
doi: 10.1182/blood-2016-08-733790 pubmed: 27729324 pmcid: 5123197
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 .
doi: 10.1182/blood-2010-04-279083 pubmed: 20519626 pmcid: 3173987
Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949–54. https://doi.org/10.1038/nature00766 .
doi: 10.1038/nature00766 pubmed: 12068308
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 .
doi: 10.1182/blood-2014-05-577825 pubmed: 25202140 pmcid: 4224195
Heritier S, Emile JF, Barkaoui MA, et al. BRAF mutation correlates with high-risk langerhans cell histiocytosis and increased resistance to first-line therapy. J Clin Oncol. 2016;34(25):3023–30. https://doi.org/10.1200/JCO.2015.65.9508 .
doi: 10.1200/JCO.2015.65.9508 pubmed: 27382093 pmcid: 5321082
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 .
doi: 10.1182/blood-2014-05-577361 pubmed: 24982505
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 .
doi: 10.1182/blood-2013-06-511139 pubmed: 24652991
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. 2015;212(2):281. https://doi.org/10.1084/jem.2013097701202015c .
doi: 10.1084/jem.2013097701202015c pubmed: 25646268 pmcid: 4322054
Hogstad B, Berres ML, Chakraborty R, et al. RAF/MEK/extracellular signal-related kinase pathway suppresses dendritic cell migration and traps dendritic cells in Langerhans cell histiocytosis lesions. J Exp Med. 2018;215(1):319–36. https://doi.org/10.1084/jem.20161881 .
doi: 10.1084/jem.20161881 pubmed: 29263218 pmcid: 5748846
Bigenwald C, Le Berichel J, Wilk CM, et al. BRAF(V600E)-induced senescence drives Langerhans cell histiocytosis pathophysiology. Nat Med. 2021;27(5):851–61. https://doi.org/10.1038/s41591-021-01304-x .
doi: 10.1038/s41591-021-01304-x pubmed: 33958797 pmcid: 9295868
Massoth LR, Hung YP, Ferry JA, et al. Histiocytic and dendritic cell sarcomas of Hematopoietic origin share targetable genomic alterations distinct from follicular dendritic cell sarcoma. Oncologist. 2021;26(7):e1263–72. https://doi.org/10.1002/onco.13801 .
doi: 10.1002/onco.13801 pubmed: 33904632 pmcid: 8265357
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 .
doi: 10.1038/s41591-019-0653-6 pubmed: 31768065 pmcid: 6898787
Durham BH, Roos-Weil D, Baillou C, et al. Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells. Blood. 2017;130(2):176–80. https://doi.org/10.1182/blood-2016-12-757377 .
doi: 10.1182/blood-2016-12-757377 pubmed: 28566492 pmcid: 5510787
Milne P, Bigley V, Bacon CM, et al. Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults. Blood. 2017;130(2):167–75. https://doi.org/10.1182/blood-2016-12-757823 .
doi: 10.1182/blood-2016-12-757823 pubmed: 28512190 pmcid: 5524529
Egan C, Lack J, Skarshaug S, et al. The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy. Mod Pathol. 2021;34(2):336–47. https://doi.org/10.1038/s41379-020-00673-x .
doi: 10.1038/s41379-020-00673-x pubmed: 32929178
Sapienza MR, Fuligni F, Agostinelli C, et al. Molecular profiling of blastic plasmacytoid dendritic cell neoplasm reveals a unique pattern and suggests selective sensitivity to NF-kB pathway inhibition. Leukemia. 2014;28(8):1606–16. https://doi.org/10.1038/leu.2014.64 .
doi: 10.1038/leu.2014.64 pubmed: 24504027 pmcid: 4294271
Cisse B, Caton ML, Lehner M, et al. Transcription factor E2–2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell. 2008;135(1):37–48. https://doi.org/10.1016/j.cell.2008.09.016 .
doi: 10.1016/j.cell.2008.09.016 pubmed: 18854153 pmcid: 2631034
Griffin GK, Sholl LM, Lindeman NI, Fletcher CD, Hornick JL. Targeted genomic sequencing of follicular dendritic cell sarcoma reveals recurrent alterations in NF-kappaB regulatory genes. Mod Pathol. 2016;29(1):67–74. https://doi.org/10.1038/modpathol.2015.130 .
doi: 10.1038/modpathol.2015.130 pubmed: 26564005
Go H, Jeon YK, Huh J, et al. Frequent detection of BRAF(V600E) mutations in histiocytic and dendritic cell neoplasms. Histopathology. 2014;65(2):261–72. https://doi.org/10.1111/his.12416 .
doi: 10.1111/his.12416 pubmed: 24720374

Auteurs

Sun Och Yoon (SO)

Department of Pathology, Yonsei University College of Medicine, Severance Hospital, 50-1 Yonsei-Ro, Seodaemun-Gu, Seoul, 03722, South Korea. soyoon@yuhs.ac.

Classifications MeSH