Erdheim-Chester Disease: a Concise Review

Papo, Matthias; Émile, Jean-François; Maciel, Thiago; Bay, Pierre; Baber, Alistair; Hermine, Olivier; Amoura, Zahir; Haroche, Julien

doi:10.1007/s11926-019-0865-2

Cited by 48 publications

(66 citation statements)

References 60 publications

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“…Therefore, the authors hypothesised that the high prevalence of (seemingly unrelated) myeloid malignancies in (particularly older) adult histiocytosis patients could be due to the well‐described association between aging and clonal hematopoiesis (CH) [70], given that CH is known to be associated with increased frequency of myeloid neoplasms because of acquisition of somatic mutations in genes commonly mutated in myeloid neoplasms. Accordingly, prospective analysis of bone marrow samples by NGS revealed that almost half of adult ECD patients harbour mutations in myeloid cancer‐ and CH‐associated genes [71,72], such as TET2 . These mutations may represent early events in the development of ECD and of additional myeloid malignancies in ECD patients.…”

Section: Discussionmentioning

confidence: 99%

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Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation

Kemps

Hebeda

Pals

et al. 2020

The Journal of Pathology CR

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Histiocytic disorders are a spectrum of rare diseases characterised by the accumulation of macrophage‐, dendritic cell‐, or monocyte‐differentiated cells in various tissues and organs. The discovery of recurrent genetic alterations in many of these histiocytoses has led to their recognition as clonal neoplastic diseases. Moreover, the identification of the same somatic mutation in histiocytic lesions and peripheral blood and/or bone marrow cells from histiocytosis patients has provided evidence for systemic histiocytic neoplasms to originate from haematopoietic stem/progenitor cells (HSPCs). Here, we investigated associations between histiocytic disorders and additional haematological malignancies bearing the same genetic alteration(s) using the nationwide Dutch Pathology Registry. By searching on pathologist‐assigned diagnostic terms for the various histiocytic disorders, we identified 4602 patients with a putative histopathological diagnosis of a histiocytic disorder between 1971 and 2019. Histiocytosis‐affected tissue samples of 187 patients had been analysed for genetic alterations as part of routine molecular diagnostics, including from nine patients with an additional haematological malignancy. Among these patients, we discovered three cases with different histiocytic neoplasms and additional haematological malignancies bearing identical oncogenic mutations, including one patient with concomitant KRAS p.A59E mutated histiocytic sarcoma and chronic myelomonocytic leukaemia (CMML), one patient with synchronous NRAS p.G12V mutated indeterminate cell histiocytosis and CMML, and one patient with subsequent NRAS p.Q61R mutated Erdheim–Chester disease and acute myeloid leukaemia. These cases support the existence of a common haematopoietic cell‐of‐origin in at least a proportion of patients with a histiocytic neoplasm and additional haematological malignancy. In addition, they suggest that driver mutations in particular genes (e.g. N/KRAS) may specifically predispose to the development of an additional clonally related haematological malignancy or secondary histiocytic neoplasm. Finally, the putative existence of derailed multipotent HSPCs in these patients emphasises the importance of adequate (bone marrow) staging, molecular analysis and long‐term follow‐up of all histiocytosis patients.

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Section: Discussionmentioning

confidence: 99%

“…In this hypothetical model, the histiocytic neoplasm and additional myeloid malignancy may independently derive from a different CH subclone, although development from a shared (e.g. TET2 mutated [15,72]) CH (sub)clone is also possible.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation

Kemps

Hebeda

Pals

et al. 2020

The Journal of Pathology CR

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“…The cases are generally diagnosed between the ages of 40-70. It is slightly more common in men (2)(3)(4).…”

Section: Introductionmentioning

confidence: 99%

“…Erdheim-Chester disease (ECD) was first described as lipoid granulomatosis in 1930 by Jacob Erdheim and William Chester (1,2). The cases are generally diagnosed between the ages of 40-70.…”

Section: Introductionmentioning

confidence: 99%

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Case of BRAF mutant Erdheim-Chester disease presenting with multisystem involvement: A case report

et al. 2021

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Objective: Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis of unknown etiology. It is a multisystemic disease that can involve bones, skin, brain, retroperitoneum, cardiovascular system, endocrine system, and lungs. Diagnosis is made by clinical findings, imaging results, and histopathological examination. BRAFV600E (B-rapidly accelerated fibrosarcoma gene) mutation is found in more than half of the cases. When Erdheim-Chester disease is not considered the differential diagnosis, it is not possible to diagnose and treat. In this case report, an Erdheim-Chester case with symptomatic, multisystem involvement, BRAFV600E mutation, and initiated vemurafenib treatment is presented in the light of literature data.

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Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim–Chester disease: case-based review

et al. 2020

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Erdheim-Chester Disease: a Concise Review

Cited by 48 publications

References 60 publications

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation

Case of BRAF mutant Erdheim-Chester disease presenting with multisystem involvement: A case report

Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim–Chester disease: case-based review

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