Erdheim‐Chester disease of the brain: Cytological features and differential diagnosis of a challenging case

Kaplan, Keith J.; Mena, Hernando; Sandberg, Glenn D.; Koeller, Kelly K.; Bouffard, John-Paul

doi:10.1002/dc.20161

Cited by 12 publications

(12 citation statements)

References 7 publications

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“…2,5,12 This finding is also in contradistinction to the focal mass lesions reported in the supratentorial compartment. 12,14,15,19,20 The final patient demonstrated diffuse FLAIR signal-intensity hyperintensity, similar to findings in a previous report by Bianco et al 21 HPA involvement has been reported as a single micronodular or nodular infundibular stalk mass 5 or thickening of the pituitary stalk. 12 This is similar to the findings in 3 patients in our study who demonstrated linear thickening of the pituitary stalk.…”

Section: Discussionsupporting

confidence: 87%

Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Sedrak¹,

Ketonen²,

Hou³

et al. 2011

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: ECD is a rare non-Langerhans-cell histiocytosis, which can involve the CNS; therefore, CNS imaging findings have been described in only a small number of patients. To gain additional insight into the CNS manifestations of ECD, we reviewed the findings on imaging of the brain, head and neck, and spine in patients with ECD who presented to our institution. Here, we illustrate manifestations that have not, to our knowledge, been previously described.

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Section: Discussionsupporting

confidence: 87%

Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Sedrak¹,

Ketonen²,

Hou³

et al. 2011

AJNR Am J Neuroradiol

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“…Lumbar puncture is not recommended since ECD histiocytes rarely appear in the cerebrospinal fluid [36]. The differential diagnosis of ECD related intracranial lesions is wide: Intracerebral histiocytic lesions may mimic a neoplasm of glial origin [37]. Lesions of the cerebellum and brainstem may appear similar to demyelinating diseases such as multiple sclerosis [38].…”

Section: Introductionmentioning

confidence: 99%

“…Additionally, unlike most intracranial lesions, cerebellar lesions appear to have no mass effect. Histological examination of these lesions reveals extensive loss of myelin sheath with gliosis and marked sparing of axons [37,46]. A variety of symptoms correlate with brainstem and cerebellar involvement of ECD.…”

Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

225

309

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Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. The etiology of ECD is unknown yet thought to be associated with an intense TH1 immune response. It may also be associated with the V600E BRAF mutation, as described in as many as half of the patients in recent studies. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen. At present, this obscure ailment embodies numerous challenges to medical science. Given its rarity, it is diagnostically elusive and requires a high level of clinical suspicion. Therapeutically, it is of limited alternatives. Currently, interferon-α is the most extensively studied agent in the treatment of ECD and serves as the first line of treatment. Treatment with other agents is based on anecdotal case reports and on the basis of biological rationale. Nevertheless, cladribine (2CDA), anakinra and vemurafenib are currently advocated as promising second line treatments for patients whose response to interferon-α is unsatisfactory. Overall, the 5 year survival of ECD is 68%. Herein, the authors mustered and brought about a panoramic consolidation of all the relevant facts regarding ECD. This work highlights the different clinical, radiological and pathological manifestations associated with ECD, the differential diagnoses, the various treatment options and the acknowledged science explaining the disease.

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“…To the best of our knowledge, we are aware of only one other case report describing the cytologic features of ECD in the literature. [18] In this other case report, the diagnosis of ECD was made on an intraoperative squash preparation from a brain lesion of a 26-year-old young man. The squash preparations showed a mixed cellular proliferation of lymphohistiocytic elements along with large, multinucleated cells with vesicular nuclei, prominent nucleoli and abundant cytoplasm.…”

Section: Discussionmentioning

confidence: 99%

“…[18] Therefore, the aim of this report is to share the unique cytomorphologic findings in another case of ECD and to highlight the key cytologic features that were helpful in reaching this challenging diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

et al. 2011

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Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.

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Erdheim‐Chester disease of the brain: Cytological features and differential diagnosis of a challenging case

Cited by 12 publications

References 7 publications

Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Erdheim-Chester Disease: a comprehensive review of the literature

Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

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