Neuroimaging manifestations of paediatric histiocytoses.
head and neck imaging
magnetic resonance imaging
neuroradiology
oncologic imaging
paediatric imaging
Journal
Journal of medical imaging and radiation oncology
ISSN: 1754-9485
Titre abrégé: J Med Imaging Radiat Oncol
Pays: Australia
ID NLM: 101469340
Informations de publication
Date de publication:
14 Nov 2023
14 Nov 2023
Historique:
received:
28
09
2023
accepted:
23
10
2023
medline:
15
11
2023
pubmed:
15
11
2023
entrez:
15
11
2023
Statut:
aheadofprint
Résumé
Histiocytoses are rare multi-system disorders marked by abnormal histiocyte cell proliferation, affecting children with diverse clinical presentations. Classified into five groups in 2016, including Langerhans-related (L), cutaneous (C), malignant (M), Rosai-Dorfman disease (R) and haemophagocytic lymphohistiocytosis (H), newer entities such as ALK-positive histiocytosis have also emerged, heralding the era of molecular (sub)classification. Common entities include Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD) and haemophagocytic lymphohistiocytosis (HLH). This pictorial essay aids radiologists in recognising and differentiating paediatric histiocytoses based on unique neuroimaging features.
Identifiants
pubmed: 37964685
doi: 10.1111/1754-9485.13602
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Royal Australian and New Zealand College of Radiologists.
Références
Emile JF, Abla O, Fraitag S et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood 2016; 127: 2672-2681.
Emile JF, Cohen-Aubart F, Collin M et al. Histiocytosis. Lancet 2021; 398: 157-170.
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.
Allen CE, Merad M, McClain KL. Langerhans-cell histiocytosis. N Engl J Med 2018; 379: 856-868.
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: 2607-2620.
Yeh EA, Greenberg J, Abla O et al. Evaluation and treatment of Langerhans cell histiocytosis patients with central nervous system abnormalities: current views and new vistas. Pediatr Blood Cancer 2018; 65 https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.26784.
Chaudhary V, Bano S, Aggarwal R et al. Neuroimaging of Langerhans cell histiocytosis: a radiological review. Jpn J Radiol 2013; 31: 786-796.
Cohen Aubart F, Idbaih A, Emile J-F et al. Histiocytosis and the nervous system: from diagnosis to targeted therapies. Neuro Oncol 2021; 23: 1433-1446.
Zaveri J, La Q, Yarmish G, Neuman J. More than just Langerhans cell histiocytosis: a radiologic review of histiocytic disorders. Radiographics 2014; 34: 2008-2024.
Prayer D, Grois N, Prosch H, Gadner H, Barkovich AJ. MR imaging presentation of intracranial disease associated with Langerhans cell histiocytosis. AJNR Am J Neuroradiol 2004; 25: 880-891.
D'Ambrosio N, Soohoo S, Warshall C, Johnson A, Karimi S. Craniofacial and intracranial manifestations of langerhans cell histiocytosis: report of findings in 100 patients. AJR Am J Roentgenol 2008; 191: 589-597.
Wang Y, Camelo-Piragua S, Abdullah A, Ibrahim M, Parmar HA. Neuroimaging features of CNS histiocytosis syndromes. Clin Imaging 2020; 60: 131-140.
Gabbay LB, Leite CC, Andriola RS, Pinho PC, Lucato LT. Histiocytosis: a review focusing on neuroimaging findings. Arq Neuropsiquiatr 2014; 72: 548-558.
Krasnokutsky MV. The button sequestrum sign. Radiology 2005; 236: 1026-1027.
Peng XS, Pan T, Chen LY, Huang G, Wang J. Langerhans' cell histiocytosis of the spine in children with soft tissue extension and chemotherapy. Int Orthop 2009; 33: 731-736.
Lim CS, Cho JH. Spinal epidural involvement in adult Langerhans cell histiocytosis (LCH): a case report. Medicine (Baltimore) 2020; 99: e18794.
Tan G, Samson I, De Wever I, Goffin J, Demaerel P, Van Gool SW. Langerhans cell histiocytosis of the cervical spine: a single institution experience in four patients. J Pediatr Orthop B 2004; 13: 123-126.
Vaiani E, Felizzia G, Lubieniecki F, Braier J, Belgorosky A. Paediatric Langerhans cell histiocytosis disease: long-term sequelae in the hypothalamic endocrine system. Horm Res Paediatr 2021; 94: 9-17.
Côté M, Salzman KL, Sorour M, Couldwell WT. Normal dimensions of the posterior pituitary bright spot on magnetic resonance imaging. J Neurosurg 2014; 120: 357-362.
Bonneville F, Cattin F, Marsot-Dupuch K, Dormont D, Bonneville JF, Chiras J. T1 signal hyperintensity in the sellar region: spectrum of findings. Radiographics 2006; 26: 93-113.
Batista RL, Ramos LS, Cescato VA et al. Thickened pituitary stalk associated with a mass in the sphenoidal sinus: an alarm to suspect hypophysitis by immunoglobulin G4? Int Arch Otorhinolaryngol 2015; 19: 273-276.
Prosch H, Grois N, Wnorowski M, Steiner M, Prayer D. Long-term MR imaging course of neurodegenerative Langerhans cell histiocytosis. AJNR Am J Neuroradiol 2007; 28: 1022-1028.
Grois N, Fahrner B, Arceci RJ et al. Central nervous system disease in Langerhans cell histiocytosis. J Pediatr 2010; 156: 873-881.e1.
Sieni E, Barba C, Mortilla M et al. Early diagnosis and monitoring of neurodegenerative Langerhans cell histiocytosis. PLoS One 2015; 10: e0131635.
Gersey ZC, Zheng I, Bregy A, Agarwal N, Komotar RJ. Intracranial Langerhans cell histiocytosis: a review. Interdiscip Neurosurg 2020; 21: 100729.
Grois N, Prosch H, Waldhauser F et al. Pineal gland abnormalities in Langerhans cell histiocytosis. Pediatr Blood Cancer 2004; 43: 261-266.
Luna LP, Drier A, Aygun N et al. MRI features of intra-axial histiocytic brain mass lesions. Clin Radiol 2021; 76: 159.e19-159.e28.
Giulio C, Barbara G, Alvise B, Corrado C, Maria Grazia S, Lorenzo D. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. Ann Rheum Dis 2013; 72: 1691-1695.
Pegoraro F, Gelain E, Gaspari S et al. Pediatric Erdheim-Chester disease in the molecular era: a multicenter case series. Blood 2021; 138 (Suppl 1): 4194.
Khan MR, Ashraf MS, Belgaumi AF. Erdheim Chester disease - an unusual presentation of a rare histiocytic disease in a 3-year old boy. Pediatr Hematol Oncol J 2017; 2: 59-62.
Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood 2020; 135: 1311-1318.
Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester disease: a comprehensive review of the literature. Orphanet J Rare Dis 2013; 8: 137.
Yelfimov DA, Lightner DJ, Tollefson MK. Urologic manifestations of Erdheim-Chester disease. Urology 2014; 84: 218-221.
Diamond EL, Dagna L, Hyman DM et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood 2014; 124: 483-492.
Haroche J, Amoura Z, Dion E et al. Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review. Medicine (Baltimore) 2004; 83: 371-392.
Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol 2012; 24: 53-59.
Arnaud L, Hervier B, Néel A et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood 2011; 117: 2778-2782.
Aubart FC, Idbaih A, Galanaud D et al. Central nervous system involvement in Erdheim-Chester disease. Neurology 2020; 95: e2746-e2754.
Parks NE, Goyal G, Go RS, Mandrekar J, Tobin WO. Neuroradiologic manifestations of Erdheim-Chester disease. Neurol Clin Pract 2018; 8: 15-20.
Lachenal F, Cotton F, Desmurs-Clavel H et al. Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. J Neurol 2006; 253: 1267-1277.
Boyd LC, O'Brien KJ, Ozkaya N et al. Neurological manifestations of Erdheim-Chester disease. Ann Clin Transl Neurol 2020; 7: 497-506.
De Abreu MR, Chung CB, Biswal S, Haghighi P, Hesselink J, Resnick D. Erdheim-Chester disease: MR imaging, anatomic, and histopathologic correlation of orbital involvement. AJNR Am J Neuroradiol 2004; 25: 627-630.
Tien RD, Brasch RC, Jackson DE, Dillon WP. Cerebral Erdheim-Chester disease: persistent enhancement with Gd-DTPA on MR images. Radiology 1989; 172: 791-792.
Huang LC, Topping KL, Gratzinger D et al. Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib. Am J Ophthalmol Case Rep 2018; 11: 158-163.
Johnson MD, Aulino JP, Jagasia M, Mawn LA. Erdheim-Chester disease mimicking multiple meningiomas syndrome. AJNR Am J Neuroradiol 2004; 25: 134-137.
Wagner KM, Mandel JJ, Goodman JC, Gopinath S, Patel AJ. Intracranial Erdheim-Chester disease mimicking parafalcine meningioma: report of two cases and review of the literature. World Neurosurg 2018; 110: 365-370.
Marinelli JP, Peters PA, Vaglio A, Van Gompel JJ, Lane JI, Carlson ML. Skull base manifestations of Erdheim-Chester disease: a case series and systematic review. Neurosurgery 2019; 85: E693-E701.
Aktan Suzgun M, Everest E, Kucukyurt S et al. Erdheim-Chester disease of brain parenchyma without any systemic involvement: a case report and review of literature. Neuropathology 2023.
Moussouttas M, Roemer S, Dickson DW. Cerebral microvascular Erdheim-Chester disease: a perivascular hematopoietic vasculopathy. Cerebrovasc Dis 2021; 50: 746-751.
Berkman J, Ford C, Johnson E, Malow BA, Aulino JM. Misdiagnosis: CNS Erdheim-Chester disease mimicking CLIPPERS. Neuroradiol J 2018; 31: 399-402.
Zou T, Wei A, Ma H et al. Systemic juvenile xanthogranuloma: a systematic review. Pediatr Blood Cancer 2023; 70: e30232.
Janssen D, Harms D. Juvenile xanthogranuloma in childhood and adolescence: a clinicopathologic study of 129 patients from the Kiel pediatric tumor registry. Am J Surg Pathol 2005; 29: 21-28.
Serrallach BL, Kralik SF, Tran BH et al. Neuroimaging in pediatric patients with juvenile xanthogranuloma of the CNS. Am J Neuroradiol 2022; 43: 1667-1673.
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.
He S, Jin K, Deng X, Zhou Z, McKinstry RC, Wang Y. Imaging features of neonatal systemic juvenile xanthogranuloma: a case report and review of the literature. J Int Med Res 2020; 48: 300060520956416.
Ginat DT, Vargas SO, Silvera VM, Volk MS, Degar BA, Robson CD. Imaging features of juvenile xanthogranuloma of the pediatric head and neck. AJNR Am J Neuroradiol 2016; 37: 910-916.
Cooper PH, Frierson HF, Kayne AL, Sabio H. Association of juvenile xanthogranuloma with juvenile myeloid leukemia. Arch Dermatol 1984; 120: 371-375.
Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol 1995; 131: 904-908.
Royer P, Blondet C, Guihard J. Xantholeukemia in infants & Recklinghausen's neurofibromatosis. Sem Hop 1958; 34: 1504-1513.
Raygada M, Arthur DC, Wayne AS, Rennert OM, Toretsky JA, Stratakis CA. Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia. Pediatr Blood Cancer 2010; 54: 173-175.
Ferrari F, Masurel A, Olivier-Faivre L, Vabres P. Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. JAMA Dermatol 2014; 150: 42-46.
Paulus S, Koronowska S, Fölster-Holst R. Association between juvenile myelomonocytic leukemia, juvenile xanthogranulomas and neurofibromatosis type 1: case report and review of the literature. Pediatr Dermatol 2017; 34: 114-118.
Rosai J, Dorfman RF. Sinus histiocytosis with massive lymphadenopathy. A newly recognized benign clinicopathological entity. Arch Pathol 1969; 87: 63-70.
Bruce-Brand C, Schneider JW, Schubert P. Rosai-Dorfman disease: an overview. J Clin Pathol 2020; 73: 697-705.
Foucar E, Rosai J, Dorfman RF, Brynes RK. The neurologic manifestations of sinus histiocytosis with massive lymphadenopathy. Neurology 1982; 32: 365-372.
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.
Brenn T, Calonje E, Granter SR et al. Cutaneous rosai-dorfman disease is a distinct clinical entity. Am J Dermatopathol 2002; 24: 385-391.
Sandoval-Sus JD, Sandoval-Leon AC, Chapman JR et al. Rosai-Dorfman disease of the central nervous system: report of 6 cases and review of the literature. Medicine (Baltimore) 2014; 93: 165-175.
Lüdemann W, Banan R, Samii A, Koutzoglou M, Di Rocco C. Cerebral Rosai-Dorfman disease. Childs Nerv Syst 2015; 31: 529-532.
Udono H, Fukuyama K, Okamoto H, Tabuchi K. Rosai-Dorfman disease presenting multiple intracranial lesions with unique findings on magnetic resonance imaging. Case report. J Neurosurg 1999; 91: 335-339.
Joshi SS, Joshi S, Muzumdar G et al. Cranio-spinal Rosai Dorfman disease: case series and literature review. Br J Neurosurg 2019; 33: 176-183.
Miniello TG, Araujo JP, Sugaya NN, Elias FM, de Almeida OP, Alves FA. Rosai-Dorfman disease affecting the maxilla. Autops Case Rep 2016; 6: 49-55.
Rodriguez-Galindo C, Helton KJ, Sánchez ND, Rieman M, Jeng M, Wang W. Extranodal Rosai-Dorfman disease in children. J Pediatr Hematol Oncol 2004; 26: 19-24.
Burton EM, Hickman M, Boulden TF, Joyner RE, Tierney MB. Orbital sinus histiocytosis: MR appearance. J Comput Assist Tomogr 1989; 13: 696-699.
Shemen L, D'Anton M, Klijian A, Toth I, Galantich P. Rosai-Dorfman disease involving the premaxilla. Ann Otol Rhinol Laryngol 1991; 100: 845-851.
La Barge DV 3rd, Salzman KL, Harnsberger HR et al. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): imaging manifestations in the head and neck. AJR Am J Roentgenol 2008; 191: W299-W306.
Canna SW, Marsh RA. Pediatric hemophagocytic lymphohistiocytosis. Blood 2020; 135: 1332-1343.
Benson LA, Li H, Henderson LA et al. Pediatric CNS-isolated hemophagocytic lymphohistiocytosis. Neurol Neuroimmunol Neuroinflamm 2019; 6: e560.
Solomon IH, Li H, Benson LA et al. Histopathologic correlates of familial hemophagocytic lymphohistiocytosis isolated to the central nervous system. J Neuropathol Exp Neurol 2018; 77: 1079-1084.
Horne A, Wickström R, Jordan MB et al. How to treat involvement of the central nervous system in hemophagocytic lymphohistiocytosis? Curr Treat Options Neurol 2017; 19: 3.
Goo HW, Weon YC. A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis. Pediatr Radiol 2007; 37: 1110-1117.
Xu X-J, Wang H-S, Ju X-L et al. Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: a retrospective multicenter study. Pediatr Blood Cancer 2017; 64: e26264.
Malik P, Antonini L, Mannam P et al. MRI patterns in pediatric CNS hemophagocytic lymphohistiocytosis. AJNR Am J Neuroradiol 2021; 42: 2077-2085.
Benallegue N, Beaudonnet F, Husson B, Moshous D, Van Bogaert P, Deiva K. Neurological involvement in secondary hemophagocytic lymphohistiocytosis in children. Eur J Paediatr Neurol 2021; 34: 110-117.
Taieb G, Kaphan E, Duflos C et al. Hemophagocytic lymphohistiocytosis gene mutations in adult patients presenting with CLIPPERS-like syndrome. Neurol Neuroimmunol Neuroinflamm 2021; 8: e970.
Debinski C, Goergen S, McLean C et al. Exploring the intersection of isolated-CNS hemophagocytic lymphohistiocytosis and pediatric chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. J Child Neurol 2021; 36: 935-942.
Chan JK, Lamant L, Algar E et al. ALK+ histiocytosis: a novel type of systemic histiocytic proliferative disorder of early infancy. Blood 2008; 112: 2965-2968.
Liu W, Liu HJ, Wang WY et al. Multisystem ALK-positive histiocytosis: a multi-case study and literature review. Orphanet J Rare Dis 2023; 18: 53.
Aoki Y, Maeda M, Kishi S et al. Central nervous system involvement of systemic ALK-positive histiocytosis with KIF5B-ALK fusion. Radiol Case Rep 2022; 17: 3867-3870.
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: 598-608.
Guo Y, Qu HB, Ning G et al. Case report: ALK-positive histiocytosis with KIF5B-ALK fusion in cerebrum-disseminated lesions in a child. Front Oncol 2022; 12: 858939.
Alizadeh M, Ravindran A, Chkheidze R et al. ALK-positive histiocytosis involving the cavernous sinus: a deceptive radiologic mimic of meningioma. Radiol Case Rep 2023; 18: 2259-2263.
He Q, Zhang W, Li Q. Failure of crizotinib based systemic treatment in ALK positive histiocytosis involving the central nervous system: a case report and literature review. BMC Pediatr 2022; 22: 308.
Matsubara K, Mori H, Hirai N, Yasukawa K, Honda T, Takanashi JI. Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy. Brain Dev 2016; 38: 964-967.
Kim JE, Cheon JE, Kim IO, Choi YH, Kim WS. Growing cyst-like white matter lesions in children with neurofibromatosis type 1. Pediatr Neurol 2017; 77: 84-88.
Liu H, Stiller CA, Crooks CJ et al. Incidence, prevalence and survival in patients with Langerhans cell histiocytosis: a national registry study from England, 2013-2019. Br J Haematol 2022; 199: 728-738.
Lian H, Wei A, He L et al. Clinical analysis of pediatric systemic juvenile xanthogranulomas: a retrospective single-center study. Front Pediatr 2021; 9: 672547.
Magableh HM, Jaber HD, Magableh AM et al. Rosai-Dorfman disease: case series and literature review. Cureus 2023; 15: e35193.
West J, Stilwell P, Liu H et al. Temporal trends in the incidence of hemophagocytic lymphohistiocytosis: a nationwide cohort study from England 2003-2018. Hema 2022; 6: e797.