Erdheim–Chester disease: a case treated with IFN-α monitored using plasma and urine cell-free DNA

Immunotherapy ◽  
2020 ◽  
Author(s):  
Zhi Yang ◽  
Sha Zhao ◽  
Juan Zhou ◽  
Song Lei ◽  
Zhangxue Hu
Keyword(s):  
Therapeutic Response ◽  
Bone Biopsy ◽  
Digital Pcr ◽  
Pcr Assay ◽  
Rare Form ◽  
Cell Free Dna ◽  
Free Dna ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim–Chester disease is a rare form of non-Langerhans histiocytosis. A 40-year-old woman was diagnosed as Erdheim-Chester disease based on typical bone scintigraphy, symmetric osteosclerosis and findings of foamy, non-Langerhans histiocytes in bone marrow. BRAFV600E mutation was detected in a bone biopsy. Treatment with IFN-α showed significant improvement. The BRAFV600E mutant was detected in plasma cell-free DNA (cfDNA) by a droplet-digital PCR assay. Longitudinal analysis of BRAFV600E in plasma cfDNA showed a decreasing trend during treatment. We could not detect the mutant in urinary cfDNA. While, similar studies have detected the BRAFV600E mutant in urine, but not in plasma. A combination of allele burden assessments in plasma and urine may be helpful for detecting the residual mutant burden and monitoring therapeutic response.

scholarly journals BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease

Oncotarget ◽  
2014 ◽  
Vol 5 (11) ◽  
pp. 3607-3610 ◽  
Author(s):  
Filip Janku ◽  
Cecile Rose T. Vibat ◽  
Karena Kosco ◽  
Veronica R. Holley ◽  
Goran Cabrilo ◽  
...  
Keyword(s):  
Plasma Cell ◽  
Braf V600e ◽  
Cell Free Dna ◽  
Free Dna ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Cardiac involvement in Erdheim- Chester disease: MRI findings and literature revision

2015 ◽  
Vol 4 (9) ◽  
pp. 205846011559227 ◽  
Author(s):  
Andrea Ponsiglione ◽  
Marta Puglia ◽  
Luigi Barbuto ◽  
Raffaele Solla ◽  
Michele Altiero ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Cardiac Involvement ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Rare Form ◽  
Erdheim Chester Disease ◽  
Central Nervous Systems ◽  
Magnetic Resonance Imaging Mri ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis, characterized by the involvement of several organs. The lesions may be skeletal or extra-skeletal: in particular, long bones, skin, lungs, and the cardiovascular and the central nervous systems can be affected. In this report, we describe a case of a 34-year-old man, who came to our observation with symptomatic ECD, for a correct assessment of the degree of cardiac involvement through magnetic resonance imaging (MRI).

scholarly journals Multisystem Radiologic Manifestations of Erdheim-Chester Disease

2016 ◽  
Vol 2016 ◽  
pp. 1-6
Author(s):  
Umairullah Lodhi ◽  
Uzair Sarmast ◽  
Saadullah Khan ◽  
Kavitha Yaddanapudi
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Disease Process ◽  
Skeletal System ◽  
Rare Form ◽  
Equal Distribution ◽  
Radiologic Findings ◽  
Erdheim Chester Disease ◽  
Males And Females ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester Disease is a rare form of multiorgan non-Langerhans’ cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. It is associated with significant morbidity and mortality that is mostly due to infiltration of critical organs. Some of the sites that Erdheim-Chester Disease affects include the skeletal system, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum), and skin. The most common presenting symptom of Erdheim-Chester Disease is bone pain although a large majority of patients are diagnosed incidentally during a workup for a different disease process. Diagnosing Erdheim-Chester Disease is challenging due its rarity and mimicry to other infiltrative processes. Therefore, a multimodality diagnostic approach is employed with imaging being at the forefront. As of date, a comprehensive radiologic review of the manifestations of Erdheim-Chester Disease has rarely been reported. Here we present radiologic findings of an individual suffering from Erdheim-Chester Disease.

scholarly journals Erdheim chester disease: A case report and review of the literature

2020 ◽  
Vol 7 (1) ◽  
pp. 22
Author(s):  
Rémie Philippe Elia ◽  
ATALLAH Adnan ◽  
AKIKI Béatrice ◽  
WAKED Hani ◽  
ZEIDAN Marwan ◽  
...  
Keyword(s):  
Case Report ◽  
Braf V600e ◽  
Bone Lesions ◽  
Review Of The Literature ◽  
Rare Form ◽  
Immune Profile ◽  
Systemic Involvement ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim Chester disease is a rare form of non-Langerhans histiocytosis with frequent BRAF V600E mutations. It is mainly characterized by multifocal osteosclerotic bone lesions with or without systemic involvement. The histologic image is consistent with a histiocytic proliferation of foamy cells in a polymorphic background. The main difference from the Langerhans histiocytosis is the immune profile with mainly S100, CD1a, and langerin negative. The overall prognosis is dependent on extraskeletal involvement. Herein, we present a typical presentation of Erdheim Chester disease with a review of the literature.

scholarly journals Urologic Manifestations and Hydronephrosis as Initial Presentation of Erdheim-Chester Disease: A Rare Form of Non-Langerhans Histiocytosis

Cureus ◽  
2021 ◽  
Author(s):  
Skyler E Burke ◽  
Akriti Chaudhry ◽  
Erin A Kaya ◽  
Kyle C Schuppe ◽  
Cheddi Thomas ◽  
...  
Keyword(s):  
Initial Presentation ◽  
Rare Form ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Erdheim-Chester Disease: A Case Report and Review of the Literature

2020 ◽  
Vol 10 ◽  
pp. 37
Author(s):  
Hema Merai ◽  
David Collas ◽  
Ashish Bhagat ◽  
Uday Mandalia
Keyword(s):  
Systemic Disease ◽  
Review Of The Literature ◽  
Skeletal System ◽  
Radiological Findings ◽  
Rare Form ◽  
Birbeck Granules ◽  
Erdheim Chester Disease ◽  
Life Threatening ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans’ cell histiocytosis characterized by xanthogranulomatous infiltration of foamy histiocytes surrounded by fibrosis. ECD may be asymptomatic or present as a multi-systemic disease with life-threatening manifestations, most commonly involving the skeletal system. Immunohistochemical staining demonstrates cells that are CD68+, CD1a–, and S100– with an absence of Birbeck granules. We report a case of a 69-year old male patient who presented with neurological symptoms – eventually thought to be separate to his diagnosis of ECD. It represents the ability to diagnose ECD based just on radiological findings in an otherwise asymptomatic individual.

scholarly journals Symptomatic empty sella syndrome: an unusual manifestation of Erdheim–Chester disease

2015 ◽  
Vol 2015 ◽  
Author(s):  
Wann Jia Loh ◽  
Kesavan Sittampalam ◽  
Suan Cheng Tan ◽  
Manju Chandran
Keyword(s):  
Bone Biopsy ◽  
Empty Sella ◽  
List Type ◽  
Empty Sella Syndrome ◽  
Multiple Organs ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Secondary Hypoadrenalism ◽  
Erdheim Chester ◽  
Chester Disease

Summary Erdheim–Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography–computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy. Learning points ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68+ CD1a− S100− histiocytes surrounded by fibrosis. The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD. Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

scholarly journals Rare Form of Erdheim-Chester Disease Presenting with Isolated Central Skeletal Lesions Treated with a Combination of Alfa-Interferon and Zoledronic Acid

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
E. N. Bulycheva ◽  
V. V. Baykov ◽  
M. I. Zaraĭskiĭ ◽  
G. N. Salogub
Keyword(s):  
Case Report ◽  
Zoledronic Acid ◽  
Clinical Symptoms ◽  
Young Male ◽  
Axial Skeleton ◽  
Bone Lesions ◽  
Rare Form ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis, which manifests under an extensive variety of clinical symptoms. This creates a challenge for the physician, who is required to recognize and diagnose the disease in the early stages. Despite this considerable challenge, in the last decade there has been a dramatic increase in ECD diagnoses, in most part due to an increasing awareness of this rare disorder. Involvement of the axial skeleton is exclusively uncommon with no official recommendations for the treatment of the bone lesions. Here, we present a case report of a young male patient with isolated lesions of the spine, ribs, and pelvis, who was successfully treated with a combination therapy of alfa-interferon and zoledronic acid.

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