Erdheim–Chester disease: a rapidly evolving disease model

Pegoraro, Francesco; Papo, Matthias; Maniscalco, Valerio; Charlotte, Frédéric; Haroche, Julien; Vaglio, Augusto

doi:10.1038/s41375-020-0944-4

Cited by 44 publications

(48 citation statements)

References 104 publications

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“…The pulmonary radiologic characteristics observed in our cohort are in accordance with previous studies, including smooth interlobular septal thickening, nodules, ground‐glass opacities, thickening of interlobar fissures, patches and thin‐walled cysts 2,8 . Interlobular septal thickening was detected in 57% of our patients, pulmonary nodules in 56%, and ground‐glass opacities in 48%.…”

Section: Discussionsupporting

confidence: 90%

“…ECD patients with pulmonary involvement are generally asymptomatic, though some experience chronic cough, dyspnoea with exertion, chest tightness and other non‐specific symptoms 8,12 . Fourteen (25·9%) patients in our series had persistent pulmonary symptoms, which was consistent with results in the French cohort 9 …”

Section: Discussionsupporting

confidence: 87%

“…Patients are mostly asymptomatic, though they may present with cough or dyspnoea. 8 Infiltration of the lung or pleura may be observed, with an interstitial lung disease (ILD)-like pattern. 2 Findings on chest computed tomography (CT) include interlobular septal thickening, pleural thickening or effusions, groundglass opacities, or, more rarely, micronodules and thin-walled cysts.…”

Section: Introductionmentioning

confidence: 99%

“…To date, few studies have described pulmonary involvement in ECD because of its rarity. Patients are mostly asymptomatic, though they may present with cough or dyspnoea 8 . Infiltration of the lung or pleura may be observed, with an interstitial lung disease (ILD)‐like pattern 2 .…”

Section: Introductionmentioning

confidence: 99%

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Pulmonary manifestations of Erdheim–Chester disease: clinical characteristics, outcomes and comparison with Langerhans cell histiocytosis

Wang

Sun

et al. 2021

Br J Haematol

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Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that typically affects many organs, including the lung and pleura. However, there are few studies concerning pulmonary involvement in ECD patients, as well as the difference of pulmonary involvement between ECD and Langerhans cell histiocytosis (LCH). We performed a retrospective study of 54 ECD patients, and compared the pulmonary manifestations with those of adult LCH patients in our centre. The median age of diagnosis of the 54 ECD patients was 48 years (range 9-66 years). Chest computed tomography (CT) scans revealed lung involvement in 49 (91%) patients and pleural involvement in 34 (63%). Thirty-three (61%) patients had interstitial lung disease (ILD) with varying degrees of interlobular septal thickening, micronodules, and ground-glass opacities. ECD and LCH patients with pulmonary involvement showed significant differences in smoking status (P < 0Á001), respiratory symptoms (P = 0Á001) such as cough and pneumothorax (P < 0Á001), and radiological findings, including cysts (P < 0Á001), opacities (P < 0Á001), and pleural thickening (P < 0Á001). With a median follow-up duration of 24 months (range, 1-84 months), the estimated three-year overall survival (OS) of this entire ECD cohort was 90Á2%. Patients with ILD tended to have worse progression-free survival (PFS) than those with no ILD (P = 0Á29).

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pulmonary manifestations of Erdheim–Chester disease: clinical characteristics, outcomes and comparison with Langerhans cell histiocytosis

Wang

Sun

et al. 2021

Br J Haematol

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“…Cardiovascular involvement is characterized radiologically by a ''sheathed'' or ''coated'' aorta and renal involvement commonly produces a ''hairy''-appearing kidney. 5,21,[32][33][34][35] The genetic alterations of ECD are seen in the MAPK pathway with BRAFV600E mutations being the most common. NRAS and PIK3CA mutations have also been described in this entity.…”

Section: Erdheim-chester Diseasementioning

confidence: 99%

Nonlymphoid Hematopoietic Diseases Presenting in Bone, Soft Tissue, and Other Extranodal Sites

Cassidy

Rosenberg

Poveda

et al. 2021

Archives of Pathology &Amp; Laboratory Medicine

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Context.— Although rare in everyday practice, the initial presentation of hematopoietic neoplasms other than lymphoma in the musculoskeletal system and other extranodal sites can generate challenging diagnostic problems for surgical pathologists. Objective.— To review the morphologic and immunophenotypic features of various nonlymphoid hematopoietic diseases presenting at extranodal sites, with emphasis on the inherent diagnostic pitfalls and differential diagnoses of these entities to aid surgical pathologists in their accurate recognition. Data Sources.— Cases reviewed herein represent both in-house and consult cases seen at our institution between 2010 and 2021. Conclusions.— Entities that present in this way include myeloid neoplasms and histiocytic/dendritic cell neoplasms. These tumors commonly cause nonspecific symptoms, and their histologic appearance can overlap with a variety of benign neoplasms and reactive processes. This can lead to delay in diagnosis and intervention with potentially lifesaving therapy; thus, accurate and expedient recognition is of paramount importance.

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Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease

Martínez‐López,

Márquez,

Pegoraro

et al. 2023

Arthritis & Rheumatology

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ObjectiveErdheim‐Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome‐wide association study.MethodsAfter quality controls, a cohort of 255 ECD patients and 7,471 healthy donors was included in this study. Afterwards, a logistic regression followed by in silico functional annotation was performed.ResultsA signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (p‐value=2.75x10‐11; OR=2.09). This association was annotated to the SETBP1 gene, which is involved in clonal haematopoiesis. Functional annotation of this region and of the identified suggestive signals revealed additional genes that could be potentially involved in the pathogenesis of the disease.ConclusionOverall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role.image

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Erdheim–Chester disease: a rapidly evolving disease model

Cited by 44 publications

References 104 publications

Pulmonary manifestations of Erdheim–Chester disease: clinical characteristics, outcomes and comparison with Langerhans cell histiocytosis

Pulmonary manifestations of Erdheim–Chester disease: clinical characteristics, outcomes and comparison with Langerhans cell histiocytosis

Nonlymphoid Hematopoietic Diseases Presenting in Bone, Soft Tissue, and Other Extranodal Sites

Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease

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