
Contents
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Introduction Introduction
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Langerhans cell histiocytosis Langerhans cell histiocytosis
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Introduction and definition Introduction and definition
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Epidemiology and aetiology Epidemiology and aetiology
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Histopathology and molecular pathogenesis Histopathology and molecular pathogenesis
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Clinical presentation Clinical presentation
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Granulomatous or tumourous CNS-LCH Granulomatous or tumourous CNS-LCH
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Neurodegenerative CNS-LCH Neurodegenerative CNS-LCH
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Diagnosis Diagnosis
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Imaging Imaging
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Management Management
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Surgery Surgery
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Radiation Radiation
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Systemic pharmacotherapy Systemic pharmacotherapy
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Quality of life, neurocognitive outcomes, survivorship, and palliative care Quality of life, neurocognitive outcomes, survivorship, and palliative care
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Quality of life Quality of life
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Neurocognitive outcomes Neurocognitive outcomes
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Surveillance recommendations Surveillance recommendations
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Commentary on treatment guidelines Commentary on treatment guidelines
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Juvenile xanthogranuloma Juvenile xanthogranuloma
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Introduction and definition Introduction and definition
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Epidemiology and aetiology Epidemiology and aetiology
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Histopathology and molecular pathogenesis Histopathology and molecular pathogenesis
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Clinical presentation Clinical presentation
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Imaging Imaging
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Management Management
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Surgery Surgery
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Radiation Radiation
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Systemic pharmacotherapy Systemic pharmacotherapy
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Quality of life, neurocognitive outcomes, survivorship, and palliative care Quality of life, neurocognitive outcomes, survivorship, and palliative care
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Surveillance recommendations Surveillance recommendations
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Identification and commentary on any treatment guidelines Identification and commentary on any treatment guidelines
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Erdheim–Chester disease Erdheim–Chester disease
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Introduction and definition Introduction and definition
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Epidemiology and aetiology Epidemiology and aetiology
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Histopathology and molecular pathogenesis Histopathology and molecular pathogenesis
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Clinical presentation Clinical presentation
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Diagnosis and imaging Diagnosis and imaging
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Management Management
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Surgery Surgery
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Radiation Radiation
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Systemic pharmacotherapy Systemic pharmacotherapy
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Quality of life, neurocognitive outcomes, survivorship, and palliative care Quality of life, neurocognitive outcomes, survivorship, and palliative care
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Surveillance recommendations Surveillance recommendations
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Identification and commentary on guidelines Identification and commentary on guidelines
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Rosai–Dorfman–Destombes disease Rosai–Dorfman–Destombes disease
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Introduction and definition Introduction and definition
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Epidemiology and aetiology Epidemiology and aetiology
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Histopathology and molecular pathogenesis Histopathology and molecular pathogenesis
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Clinical presentation Clinical presentation
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Imaging and diagnosis Imaging and diagnosis
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Management Management
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Surgery Surgery
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Radiation Radiation
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Systemic pharmacotherapy Systemic pharmacotherapy
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Quality of life, neurocognitive outcomes, survivorship, and palliative care Quality of life, neurocognitive outcomes, survivorship, and palliative care
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Surveillance recommendations Surveillance recommendations
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Commentary on treatment guidelines Commentary on treatment guidelines
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Atypical to high-grade histiocytic lesions, including secondary post-leukaemic and primary malignant histiocytic neoplasms (formerly histiocytic sarcoma, Langerhans cell sarcoma) Atypical to high-grade histiocytic lesions, including secondary post-leukaemic and primary malignant histiocytic neoplasms (formerly histiocytic sarcoma, Langerhans cell sarcoma)
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Introduction and definition Introduction and definition
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Epidemiology and aetiology Epidemiology and aetiology
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Histopathology and molecular pathogenesis Histopathology and molecular pathogenesis
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Clinical presentation Clinical presentation
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Diagnosis and imaging Diagnosis and imaging
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Management Management
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Surgery Surgery
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Radiation Radiation
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Systemic pharmacotherapy Systemic pharmacotherapy
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Quality of life, neurocognitive outcomes, survivorship, and palliative care Quality of life, neurocognitive outcomes, survivorship, and palliative care
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Surveillance recommendations Surveillance recommendations
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Commentary on treatment guidelines Commentary on treatment guidelines
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Future research directions Future research directions
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References References
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5 Histiocytic tumours of the central nervous system
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Published:July 2024
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Abstract
Histiocytoses are heterogeneous neoplasms of the haematopoietic system characterized by the accumulation of histiocytes with variable inflammatory infiltrates. The identification of the crucial role of the mitogen-activated protein kinase (MAPK) pathway has opened the door to new targeted therapies. This chapter reviews the central nervous system (CNS) manifestations and treatment of six histiocytic disorders: Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG), Erdheim–Chester disease (ECD), Rosai–Dorfman–Destombes disease (RDD), and histiocytic sarcoma (HS). CNS involvement occurs in 10–25% of LCH cases and can manifest in tumorous or neurodegenerative forms, which can have different clinical, radiographic, and prognostic implications. Intracranial JXG accounts for 2% of all JXG cases, is more common in males, and is usually leptomeningeal, with frequent concurrent systemic disease. Almost 40% of ECD patients can present with tumourous or neurodegenerative manifestations, and this can affect the brain parenchyma, leptomeninges, and hypothalamic–pituitary axis. RDD CNS lesions are usually tumourous, with meningeal or parenchymal masses without neurodegenerative lesions. Refractory CNS histiocytic neoplasms should lead to the consideration of targeted kinase inhibitor therapies such as BRAF/MEK or ERK inhibitors.
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