Histiocytic sarcoma: a study of five cases including the histiocyte Lab Sci. Donadieu, J. et al. Maschalidi, S., Sepulveda, F. E., Garrigue, A., Fischer, A. A. Blood 130, 13771380 (2017). Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Pathol. J. Haematol. PubMed Blood 130, 167175 (2017). have served on advisory committees for SOBI Corporation. Exp. Hematol. Horneff, G., Jurgens, H., Hort, W., Karitzky, D. & Gobel, U. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): response to methotrexate and mercaptopurine. Childs Nerv. 55 CD68 was also used to identify cells of macrophage lineage such as tissue histiocytes . The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. McClain, K. L. et al. The clinical history is important to identify the association of asthma with AAPOX, monoclonal serum immunoglobulins with NXG, and cholesterol disorders with xanthelasma. CSF1 expression was present in "null cells" in 7/10 cases (RNAscope chromogenic in situ hybridization). Am J Surg Pathol 2014;38:548551. High efficacy of the MACOP-B regimen in the treatment of adult Langerhans cell histiocytosis, a 20 year experience. Romberg, N., Vogel, T. P. & Canna, S. W. NLRC4 inflammasomopathies. Arch Pathol Lab Med 2016;140:230240. Am. Rheum. Recurrent BRAF mutations in Langerhans cell histiocytosis. Lancet 343, 767768 (1994). Pediatr. Clin. Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes. Etoposide selectively ablates activated T cells to control the immunoregulatory disorder hemophagocytic lymphohistiocytosis. Treatment of multisystem Langerhans cell histiocytosis. (4 cases) [French]. In other cases, the pathologist is first presented with incidental histiocytic infiltrates in a cutaneous or lymph node biopsy. Zur, S. U. et al. Berres, M. L. et al. 188, e84e87 (2020). Surg. Blood 119, 27542763 (2012). 89, 484492 (2014). T cell-Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (HLH) occurs in non-Asians and is associated with a T cell activation state that is comparable to primary HLH. Solitary myofibromatosis of the skull: a case report and review of literature. Genes Immun. Phillips, M., Allen, C., Gerson, P. & McClain, K. Comparison of FDG-PET scans to conventional radiography and bone scans in management of Langerhans cell histiocytosis. Garces, S. et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. 12, 95 (2017). Cite this article. Eur. Incorporation of thiotepa in a reduced intensity conditioning regimen may improve engraftment after transplant for HLH. 39, 3539 (2002). Opin. Simko, S. J., McClain, K. L. & Allen, C. E. Up-front therapy for LCH: is it time to test an alternative to vinblastine/prednisone? Tsuji, M. et al. Blood Cancer 61, 479487 (2014). Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. J. Haematol. & Jaffe, R. Nosology and pathology of Langerhans cell histiocytosis. J. Pediatr. Ann. Biomedicine 18, 365371 (1973). Dermatol. Submitted June 14, 2021; final revision received September 24, 2021; accepted for publication September 28, 2021. 14, 307311 (1996). 470472 (IARC, 2017). Durham, B. H. et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Genet. The pathologist can play a key role in classification of these disorders through multidisciplinary collaboration and correlation of pathologic features with clinical and radiologic findings. Teaching neuroimages: brain and skin involvement in Erdheim-Chester disease. Mol. CD163 - Wikipedia Oral. Within the past decade, discoveries of pathogenic mutations in the MAPK (RAS-RAF-MEK-ERK) pathway and PI3K-AKT pathway in histiocytic neoplasms have transformed our ability to diagnose, classify, and treat these disorders.14 However, the first step in confirming a pathologic diagnosis in these patients remains a great challenge. (D) CD163 is negative in the RDD histiocytes in 10% of RDD, as in this case (arrow). Medicine (Baltimore) 83, 371392 (2004). Erdheim-Chester disease: expanding the spectrum of cutaneous manifestations. (A) Hematoxylin-eosin stain showing mixed inflammation, including clusters of Langerhans cells, small lymphocytes, and rare eosinophils in a fibrotic background. Neurol. Rodriguez-Galindo, C. & Allen, C. E. Langerhans cell histiocytosis. Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults. . Medicine (Baltimore) 93, 165175 (2014). Blood Adv. Ravindran A, Goyal G, Go RS, et al. Pathol. Allergy Clin. Hematol. Reticulohistiocytoses: a revision of the full spectrum. Efficacy of infliximab in the treatment of Erdheim-Chester disease. (A) Hematoxylin-eosin stain showing nodular lymphoplasmacytic infiltrates with surrounding dense fibrosis. Soc. Cytom. 18F-fluorodeoxyglucose-positron emission tomography scanning is more useful in followup than in the initial assessment of patients with Erdheim-Chester disease. 130, 774784 (1997). Additional useful markers include OCT2 and BRAF V600E (antibody clone VE1). In the 3 major types, LCH, RDD, and ECD, the histiocyte morphology is variable and bland and may be obscured by fibrosis and intermixed reactive inflammation. Blood 78, 29182922 (1991). Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab. Annu. Pachlopnik, S. J. et al. This localization within the sinuses is a critical distinction from the reactive Langerhans cells that are present in the paracortex of lymph nodes with benign dermatopathic change.11. 4, 19982010 (2020). Eur. Naik, S. H. et al. CD163-positive cancer cells are potentially associated with high malignant . Clinicopathological features, treatment approaches, and outcomes in Rosai-Dorfman disease. The diagnosis requires multidisciplinary integration of the entire picture from the clinical, radiology, laboratory, and pathology perspectives. Peyret, V. et al. Pediatr. 4, 49124917 (2020). Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Pathol. Blood 121, 595603 (2013). Myeloperoxidase positive histiocytes in subacute necrotizing lymphadenitis express both CD11c and CD163 - Jang - 2011 - Basic and Applied Pathology - Wiley Online Library Volume 4, Issue 4 p. 110-115 Myeloperoxidase positive histiocytes in subacute necrotizing lymphadenitis express both CD11c and CD163 Seon Jung Jang, Seon Jung Jang Blood Cancer 47, 629632 (2006). Interne 36, A40A41 (2015). Nat Rev Dis Primers 7, 73 (2021). Evaluation and treatment of Langerhans cell histiocytosis patients with central nervous system abnormalities: current views and new vistas. Minkov, M. et al. The RDD histiocytes are often located at the periphery of reactive lymphoid follicles within the infiltrate. Dis. Incidence and survival of childhood Langerhans cell histiocytosis in Northwest England from 1954 to 1998. Satpathy AT, Kc W, Albring JC, et al. 96, E146E150 (2021). 212, 139144 (2000). Pediatr. Blood 130, 27282738 (2017). When a bone lesion is targeted for biopsy, advanced planning is necessary to process multiple cores without decalcification, as this may interfere with IHC for BRAF V600E as well as molecular genetic testing. In the first authors experience (K.L. Reduced-intensity conditioning for hematopoietic cell transplant for HLH and primary immune deficiencies. J. Pediatr. Zbtb46 expression distinguishes classical dendritic cells and their committed progenitors from other immune lineages. Cohen-Aubart, F. et al. Cancer 125, 963971 (2019). CD1a-expressing cells are rare in RDD, and the histiocytes do not express the dendritic markers CD21, CD23, and CD35. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. & Bosch, X. Am J Dermatopathol 1996;18:490504. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Cancer 42, 25632569 (2006). Blood Cancer 68, e28891 (2021). Blood 137, 17771791 (2021). Ho, C. et al. J. Hematol. 28, 521528 (2018). Tazi, A. et al. Weiss, L. M. & Facchetti, F. in WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (eds Swerdlow, S. H. et al.) PubMed Cell 144, 646674 (2011). Bergsten, E. et al. Pediatr. Blood Cancer 47, 123129 (2006). CD163-positive cancer cells are a predictor of a worse clinical course in lung adenocarcinoma. In contrast, benign xanthogranulomatous lesions are usually limited to the preseptal anterior orbit. Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. Blood Cancer 66, e27929 (2019). Clin. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Grois, N., Prayer, D., Prosch, H. & Lassmann, H. Neuropathology of CNS disease in Langerhans cell histiocytosis. Pediatr. 9332 - Gene ResultCD163 CD163 molecule [ (human)] Bone Jt. 141, 6271 (2014). In addition to characteristic histiocytes, there is an . Genet. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. the involvement of monocytes/macrophages. 165, 990996 (2014). These cells may arise from the embryonic yolk sac, fetal liver or postnatal bone marrow. Ramos-Casals, M., Brito-Zeron, P., Lopez-Guillermo, A., Khamashta, M. A. Morier, P. et al. Blood 126, 14151423 (2015). The morphologic variants have been described as having scalloped, vacuolated, xanthomatized, spindle cell, or oncocytic cytoplasmic features.15,19 It has been suggested that these variants represent a continuum along a maturation pathway that may change over the temporal evolution of the lesion, and also may be influenced by the nature of the host response.20. Although strong nuclear and cytoplasmic expression of Factor XIIIa is characteristic and supportive of a diagnosis of ECD, this marker is also positive in localized forms of xanthogranuloma,19 may be expressed in RDD, and is variably expressed in reactive stromal cells.12 In contrast to LCH and RDD, cyclin D1 has not been established as a marker that is useful in distinguishing ECD histiocytes from their reactive counterparts. 176, 394400 (2014). Henter, J. I. et al. Blood Cancer 50, 12271235 (2008). Crit. Br. 85, 179180 (1992). Dis. Aschoff, L. & Kiyono, K. Frage der grossen Mononulearn. Blood 104, 735743 (2004). Blood Adv. Lung involvement in Destombes-Rosai-Dorfman disease: clinical and radiological features and response to the MEK inhibitor cobimetinib. CNS Langerhans cell histiocytosis: common hematopoietic origin for LCH-associated neurodegeneration and mass lesions. Adult pulmonary Langerhans cell histiocytosis [French]. These diseases affect children and adults in varying proportions depending on which of the entities is involved. Nat. Mod Pathol 2018;31:581597. CAS Because the variant allele frequency of pathogenic mutations is often very low in ECD,26 it is not uncommon to require additional tissue biopsy and repeat NGS studies and/or a highly sensitive molecular test before the pathogenic mutation is identified. Allen, C. E. et al. Google Scholar. J. Exp. 77, 840847 (2018). Vascular Marker CD31 Also Highlights Histiocytes and Histiocyte-Like PLoS. Ballester, L. Y. et al. ); Cancer Research UK (CRUK) grant C30484/A21025 (to M.C. Chellapandian, D. et al. ALK-positive histiocytosis: an expanded clinicopathologic spectrum and frequent presence of KIF5B-ALK fusion. Pediatr. 137, 638640 (2016). Wada, T. et al. Kamisawa, T., Zen, Y., Pillai, S. & Stone, J. H. IgG4-related disease. Permanent consequences in Langerhans cell histiocytosis patients: a pilot study from the Histiocyte SocietyLate Effects Study Group. No genomic aberrations in Langerhans cell histiocytosis as assessed by diverse molecular technologies. Hervier, B. et al. Mourah, S. et al. CD163 - an overview | ScienceDirect Topics Feldmann, J. et al. Kobic A, Shah KK, Schmitt AR, et al. Cambiaghi, S., Restano, L. & Caputo, R. Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies. Treatment of Langerhans cell histiocytosis bone lesions with zoledronic acid: a case series. Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. Bryceson, Y. T., March, M. E., Ljunggren, H. G. & Long, E. O. Synergy among receptors on resting NK cells for the activation of natural cytotoxicity and cytokine secretion. J. Hematol. 1, 15331536 (2017). Options Neurol. 23, 647654 (1992). Cohen, A. F. et al. Blood 131, 28772890 (2018). Dermatol. 72, 10591063 (2020). In progressive nodular histiocytosis, spindled histocytes predominate. [7] It also is a marker of cells from the monocyte / macrophage lineage. Genes Chromosomes Cancer 54, 361368 (2015). Langerhans-Cell Histiocytosis | NEJM Pediatr. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Cancer Discov. Am. Oncol. From:Biomarkers of Kidney Disease (Second Edition), 2017 Related terms: CD68 Microglia Tumor Necrosis Factor Alpha Eicosanoid Receptor CD14 Scavenger Receptor Neurology 2021;96:e15901592. CD163-positive staining (C2), and a P2RY12 infiltrate with occasional P2RY12-positive, tissue-resident microglia (C3). Disclosures: The authors have disclosed not having any financial interests, arrangements, or affiliations with the manufacturers of any products discussed in this article or their competitors. Goyal, G. et al. Oral. 46, 11351139 (2014). Diamond, E. L. et al. Peckham-Gregory, E. C. et al. CD163 Expression Is Present in Cutaneous - Oxford Academic Florid dermatopathic lymphadenopathya morphological mimic of Langerhans cell histiocytosis. Immunol. Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: a retrospective multicenter study. The retroperitoneum is a frequent site of ECD involvement, in the form of perinephric (hairy kidney) or periaortic infiltrates (coated aorta). Groupe dEtude en Pathologie Interstitielle de la Societe de Pathologie Thoracique du Nord. Am J Surg Pathol 2017;41:13901396. Hogstad, B. et al. PubMed Central As these subpopulations can be also characterized by different levels of HLA-DR and CD163, we evaluated their expression on monocyte subpopulations of patients with chronic lymphocytic leukemia (CLL) and healthy individuals. Lin, H. et al. ALK-positive histiocytosis: an expanded clinicopathologic spectrum and frequent presence of KIF5B-ALK fusion . If a systemic process is confirmed or suspected, skin lesions provide an accessible biopsy site for molecular genetic testing. Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification. Blood 130, 176180 (2017). Med. Blood 137, 485492 (2021). Abdalgani, M. et al. They are commonly negative for monocyte/macrophage markers CD14, CD163, and OCT2.12 In contrast to benign Langerhans cells that may show weak and patchy cyclin D1 expression, the neoplastic cells of LCH show strong and diffuse expression of cyclin D1 as a result of the activation of the MAPK pathway,13,14 and this feature may be helpful in diagnosis. Given a diagnostic morphology and phenotype, identification of a mutation in the MAPK pathway is not required to establish a diagnosis of LCH. Blood Cancer 48, 555560 (2007). Pathology Outlines - CD68 J. Semin. Bode, S. F. et al. Abla, O. et al. 75, 481489 (2016). 60, 31283138 (2009). McClain, K. L., Gonzalez, J. M., Jonkers, R., De, J. E. & Egeler, M. Need for a cooperative study: pulmonary Langerhans cell histiocytosis and its management in adults. 12, 811814 (1992). Blood 2020;135:19291945. Invest. J. Haematol. and K.L.M. Diamond, E. L. et al. Front Immunol. 22 June 2022, Access Nature and 54 other Nature Portfolio journals, Get Nature+, our best-value online-access subscription, Receive 1 digital issues and online access to articles, Get just this article for as long as you need it, Prices may be subject to local taxes which are calculated during checkout. A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis. 33, 411418 (2015). Rheum. Blood Cancer 51, 7175 (2008). Blood 127, 15091512 (2016). Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Neurology 86 (Suppl. Egeler, R. M., de, K. J. Dev. 17, 398404 (2017). Cohen-Aubart, F. et al. 69, 6771 (2002). Pediatr. 13, 289298 (2012). Menasche, G. et al. Emile, J. F. et al. Allergy Clin. Riviere, S. et al. J. Hematol. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Lung biopsy involved by Langerhans cell histiocytosis. Diverse and targetable kinase alterations drive histiocytic neoplasms. Ronceray, L., Potschger, U., Janka, G., Gadner, H. & Minkov, M. Pulmonary involvement in pediatric-onset multisystem Langerhans cell histiocytosis: effect on course and outcome. Int. Erdheim-Chester disease in childhood: a challenging diagnosis and treatment. & Nesbit, M. E. Jr. Intralesional infiltration of corticosteroids in localized Langerhans cell histiocytosis. Nature 549, 389393 (2017). & Poulikakos, P. I. Central nervous system disease in Langerhans cell histiocytosis. A new unifying concept, Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses, Peritoneal or mesenteric tumours revealing histiocytosis, Adult orbital xanthogranulomatous disease: a review with emphasis on etiology, systemic associations, diagnostic tools, and treatment, Erdheim-Chester disease: expanding the spectrum of cutaneous manifestations, for Associazione Italiana Ricerca Istiocitosi ONLUS, Reticulohistiocytoses: a revision of the full spectrum, Teaching neuroimages: brain and skin involvement in Erdheim-Chester disease, Highly sensitive methods are required to detect mutations in histiocytoses, Copyright 2021 by the National Comprehensive Cancer Network 2021. Ophthalmol. Langerhans-Cell Histiocytosis - PMC - National Center for Biotechnology Plexiform fibrohistiocytic tumor: a clinicopathological and - Springer 9, 20022006 (1996). Retrospective expert review of prior biopsies taken before a histiocytic neoplasm was suspected may yield a definitive diagnosis. Disease characteristics, radiologic patterns, comorbid diseases, and ethnic differences in 32 patients with Rosai-Dorfman disease. Genet. Nat. Blood Cancer 42, 438444 (2004). Pract. However, histologic overlap prevents distinction based on pathology alone, and familiarity with the specific clinical presentation of each of these disorders is necessary for classification.23,24 In some cases, xanthogranulomatous skin lesions will be the first presentation of ECD, prompting a careful evaluation of the patient to identify systemic disease. 109, 8588 (1986). Immunol. Although a more limited IHC panel may be adequate as guided by morphologic features, application of the full panel can help identify cases of mixed histiocytoses in which LCH, ECD, and RDD components are present within the same biopsy or involving different sites in the same patient.6,7, The pathologic diagnosis of LCH relies on identification of abnormal collections of cells with a Langerhans cell phenotype. J. Dermatol. The diagnosis of histiocytic neoplasms remains a great challenge. Acta Paediatr. J. Clin. Tissue histiocyte reactivity with CD31 is comparable to CD68 and CD163 J. Med. Orphanet. Grois, N. et al. Cardiac involvement in Erdheim-Chester disease: magnetic resonance and computed tomographic scan imaging in a monocentric series of 37 patients. As a first step in identifying a mutation, IHC using the VE1 clone for BRAF V600E can rapidly identify this mutant protein that is present in approximately half of LCH and ECD cases. 129, 787793 (2012). CAS Pathol. Pediatr. Blood 89, 41004103 (1997). Allen, C. E., Ladisch, S. & McClain, K. L. How I treat Langerhans cell histiocytosis. Open Access Zelger, B. W., Sidoroff, A., Orchard, G. & Cerio, R. Non-Langerhans cell histiocytoses. J. Immunol. Benson, L. A. et al. Expression of CD163 in dermatofibroma, cellular fibrous - PubMed The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Johnson, T. S. et al. Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations. Pathol. Child. Med 215, 319336 (2018). 44, 450461 (2020). Arch. J. R. Soc. 184, 45574567 (2010). Picarsic J, Pysher T, Zhou H, et al. Proc. Freyer, D. R., Kennedy, R., Bostrom, B. C., Kohut, G. & Dehner, L. P. Juvenile xanthogranuloma: forms of systemic disease and their clinical implications. Oncol. Leukemia RDD can also be observed at several extranodal sites including the bones/BM [19, 20]. Langerhans-cell histiocytosis (histiocytosis X)a clonal proliferative disease. Sepulveda, F. E. et al. Histologic features in lymphatic RDD include dramatically expanded sinusoids and interfollicular regions by CD1a CD163 + histiocytes. Extranodal Rosai-Dorfman disease in children. Scheel, M. M., Rady, P. L., Tyring, S. K. & Pandya, A. G. Sinus histiocytosis with massive lymphadenopathy: presentation as giant granuloma annulare and detection of human herpesvirus 6. 2019-2023 National Comprehensive Cancer Network, Copy this link, or click below to email it to a friend. 77, 13871390 (2018). Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr. Goyal G, Ravindran A, Young JR, et al. CD163, a recently characterized hemoglobin scavenger receptor, appears to be a 'specific' marker of histiocytic lineage and a promising diagnostic tool for evaluating histiocytic neoplasms. J. RDD shows expression of macrophage markers CD68 and CD163, as well the monocyte marker OCT2.12 In addition, S100 is positive in the RDD histiocytes, whereas CD1a and langerin are negative. Classic RDD with cervical adenopathy frequently . 29, 799823 (2015). 33, 4751 (2011). Pediatr. Eur. A. J. Dermatopathol. 142, 20042007 (2018). McClain, K. L. & Kozinetz, C. A. ); a St. Baldricks Foundation Innovation grant (C.E.A. A. The Mayo Clinic Histiocytosis Working Group consensus statement for the diagnosis and evaluation of adult patients with histiocytic neoplasms: Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Med. Mol. Allen, C. E. et al. Genet. Variable histopathology in Erdheim-Chester disease. Ravelli, A., Grom, A. Lorillon, G., Meignin, V. & Tazi, A. Juvenile xanthogranuloma with hematological dysfunction treated with 2CDA-AraC. Anaplastic lymphoma kinase (ALK)-positive histiocytosis is an uncommon condition, recently considered a separate condition from other histiocytosis by WHO 5th edition. Blood 132, 14381451 (2018). Pediatr. Canna, S. W. et al. Jordan, M. B. et al. 16, 377385 (1999). Kenneth L. McClain. The orbit and lacrimal gland may also be sites of involvement of IgG4-related disease and extranodal marginal zone lymphoma. Ammann, S. et al. If no mutation is found, additional testing by RNA sequencing would be required to identify pathogenic gene fusions of BRAF, ALK, or NTRK1. Adult orbital xanthogranulomatous disease: a review with emphasis on etiology, systemic associations, diagnostic tools, and treatment. J. Hematol. Althonaian, N., Alsultan, A., Morava, E. & Alfadhel, M. Secondary hemophagocytic syndrome associated with COG6 gene defect: report and review. 19, 3 (2017). Med. Med. Rodriguez-Galindo, C. et al. Am. Eckstein, O. S. et al. Oncol. Psychological features of adult patients with langerhans cell histiocytosis. Brain 128, 829838 (2005). Blood 117, 27782782 (2011). Yu, R. C., Chu, C., Buluwela, L. & Chu, A. C. Clonal proliferation of Langerhans cells in Langerhans cell histiocytosis.
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