scholarly journals Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series

BMC Medicine ◽  
2014 ◽  
Vol 12 (1) ◽  
Author(s):  
Roei D Mazor ◽  
Mirra Manevich-Mazor ◽  
Anat Kesler ◽  
Orna Aizenstein ◽  
Iris Eshed ◽  
...  
Keyword(s):  
Case Series ◽  
Erdheim Chester Disease ◽  
Key Issues ◽  
Clinical Considerations ◽  
Erdheim Chester ◽  
Chester Disease

Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review

Neurosurgery ◽  
2019 ◽  
Vol 85 (4) ◽  
pp. E693-E701 ◽  
Author(s):  
John P Marinelli ◽  
Pierce A Peters ◽  
Augusto Vaglio ◽  
Jamie J Van Gompel ◽  
John I Lane ◽  
...  
Keyword(s):  
Skull Base ◽  
Central Nervous System Involvement ◽  
Case Series ◽  
Mass Effect ◽  
Female Ratio ◽  
Trigeminal Schwannoma ◽  
Erdheim Chester Disease ◽  
Institutional Review ◽  
Erdheim Chester ◽  
Chester Disease

AbstractBACKGROUNDErdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. Up to 50% of patients develop central nervous system involvement, and a subset of these patients can present with isolated tumor-like masses.OBJECTIVETo describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation.METHODSScopus, Web of Science, and PubMed were searched from database inception to May 1, 2018 for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors’ institution since January 1, 1996 was also performed to supplement these data.RESULTSOf 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 yr (interquartile range, 42-58) with a 4:1 male-to-female ratio. Patients frequently presented with diplopia (48%), headache (30%), dysarthria (22%), and vertigo or imbalance (22%), though trigeminal hypesthesia (11%), facial nerve paresis (7%), hearing loss (7%), and trigeminal neuralgia (7%) were also observed. ECD commonly mimicked meningioma (33%), trigeminal schwannoma (8%), neurosarcoidosis (8%), and skull base lymphoma (8%).CONCLUSIONDiscrete skull base lesions frequently mimic more common pathology such as meningioma or cranial nerve schwannomas. Medical therapy comprises the initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is largely limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.

Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review

2019 ◽  
Author(s):  
P. Peters ◽  
J. Marinelli ◽  
A. Vaglio ◽  
J. Van Gompel ◽  
J. Lane ◽  
...  
Keyword(s):  
Systematic Review ◽  
Skull Base ◽  
Case Series ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals PD-1/ PD-L1 Expression Is Associated with Tissue Inflammation and BRAF Status in Erdheim-Chester Disease

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4380-4380
Author(s):  
Frédéric Charlotte ◽  
Fleur Cohen-Aubart ◽  
Levi-Dan Azoulay ◽  
Jean Donadieu ◽  
Jean-François Emile ◽  
...  
Keyword(s):  
Immune Checkpoint ◽  
Conflicts Of Interest ◽  
Systemic Disease ◽  
Strong Association ◽  
Case Series ◽  
Negative Association ◽  
Brafv600e Mutation ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Rationale: In patients with Erdheim-Chester disease (ECD), accumulation of foamy histiocytes leads to multi-systemic disease with various organs involvement. The fact that BRAFV600E mutation is found in as much as 70% of ECD tissues, led to the reclassification of ECD as a myeloid neoplasm and has already greatly improved therapy for adults with histiocytoses. Despite these advances, there is still a need to further improve therapy for ECD patients as targeted therapies may cause morbidity and late treatment effects from such regimens and as patients almost systematically relapse when these therapies are stopped. In 2015, Galatica et al reported an increased expression of PD-L1 in 4/4 ECD cases tested all of which were BRAFV600E mutated. We thus decided to analyze a larger case series of patients as this could represent rationale for addition of immune check-point inhibitors in treatment of multisystemic and/or refractory histiocytoses. Patients and Methods: We included 36 ECD patients for which BRAF status was determined. Biopsy samples were re-read in all cases. The density of inflammatory cells (lymphocytes and plasma cells) other than histiocytes was evaluated as mild (+), moderate (++), or marked (+++). Immunostaining was performed to detect PD-L1 (QR1Clone) in histiocytes and PD-1 (NAT105 clone) in lymphocytes. PD-L1 was assessed as percentage of positive histiocytes. The positivity of PD-L1 was defined as ≥ 5%. PD-1 immunostaining was evaluated as mild (+), moderate (++), or marked (+++). Results: Overall, BRAFV600E was present in 19 patients (52.8%), MAP2K1 in 2 (5.5%) and NRAS in 1 (2.8 %). PD-L1 was positive in 15 patients (41.7%), PD-1 in 23 (63.8%) and both were found in 13 (36.1%). The intensity of inflammation in 21 patients (58.3%) was mild, moderate in 9 (25%) and high in 6 (16.7%). Among the 23 PD-1 positive cases, 15 (65.2%) were mild and 8 (34.8%) moderate. We found a strong association between PD-L1 positivity and intensity of inflammation: 13 PD-L1 positive patients were moderate/marked, vs 2 PD-L1 positive being mild; only 2 PD-L1 negative patients were moderate/marked, vs 19 PD-L1 negative being mild (p<0.001). The same association was seen between PD1 positivity and level of inflammation: 14 PD-1 positive patients had moderate/marked inflammation, vs 9 PD-1 positive patients with mild inflammation; 1 PD-1 negative patient had moderate/marked inflammation, vs 12 PD-1 negative with mild inflammation (p<0.01). We found a negative association between PD-L1 positivity and BRAFV600E mutation: 4 PD-L1 + patients were mutated vs 11 PD-L1 + being BRAFV600E Wild Type (WT); 15 PD-L1 - patients were mutated vs 6 PD-L1- being WT (p<0.01). No association was found between PD-1 postivity and BRAFV600E mutation. 80 % of patients which were PD-L1 - PD-1 + were BRAFV600E mutated. In the contrary, all patients PD-L1 + PD-1 - were WT. Conclusions: We found a negative association between PD-L1 positivity and BRAFV600E mutation. Eleven patients only (30.5%) of ECD patients were PD-L1 and PD-1 negative. The recent success of immune checkpoint blockade therapy in some cancer types combined with the expression of immune checkpoint antigens in ECD samples suggests that such therapies should be investigated for refractory ECD. Disclosures No relevant conflicts of interest to declare.

Case report of Erdheim-Chester disease in a female cardiac surgery patient

2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
HR Mahoozi ◽  
A Zittermann ◽  
K Hakim-Meibodi ◽  
J Gummert ◽  
N Mirow
Keyword(s):  
Cardiac Surgery ◽  
Case Report ◽  
Cardiac Surgery Patient ◽  
Erdheim Chester Disease ◽  
Surgery Patient ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester Disease Presenting with Histiocytic Colitis and Cytokine Storm

2017 ◽  
Vol 26 (2) ◽  
pp. 183-187
Author(s):  
George P. Christophi ◽  
Yeshika Sharma ◽  
Quader Farhan ◽  
Umang Jain ◽  
Ted Walker ◽  
...  
Keyword(s):  
Periodic Acid ◽  
Poor Response ◽  
Rare Type ◽  
Periodic Acid Schiff ◽  
Hematopoietic Stem ◽  
Hemodynamic Compromise ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease ◽  
Segmental Colitis

Background: Non-Langerhans histiocytosis is a group of inflammatory lymphoproliferative disorders originating from non-clonal expansion of hematopoietic stem cells into cytokine-secreting dendritic cells or macrophages. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans cell histiocytosis characterized by tissue inflammation and injury caused by macrophage infiltration and histologic findings of foamy histiocytes. Often ECD involves the skeleton, retroperitoneum and the orbits. This is the first report documenting ECD manifesting as segmental colitis and causing cytokine-release syndrome.Case presentation: A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68+/CD163+/S100- consistent with ECD. The patient was empirically treated with steroids but continued to have fever and developed progressive distributive shock.Conclusion: This case report describes the differential diagnosis of infectious and immune-mediated inflammatory and rheumatologic segmental colitis. Non-Langerhans histiocytosis and ECD are rare causes of gastrointestinal inflammation. Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding. Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signaling should be considered.Abbreviations: AFB: acid-fast bacilli; ECD: Erdheim-Chester Disease; IBD: inflammatory bowel disease; PASD: periodic acid-Schiff with diastase; TB: tuberculosis

Erdheim-Chester Disease Involving Bilateral Lower Extremities

2000 ◽  
Vol 174 (3) ◽  
pp. 875-876 ◽  
Author(s):  
Tamio Kushihashi ◽  
Hirotsugu Munechika ◽  
Masayuki Sekimizu ◽  
Etsuo Fujimaki
Keyword(s):  
Lower Extremities ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Isolated thoracic intramedullary Erdheim-Chester disease presenting with paraplegia: a case report and literature review

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ikchan Jeon ◽  
Joon Hyuk Choi
Keyword(s):  
Surgical Resection ◽  
Fdg Pet ◽  
Rare Case ◽  
Systemic Disease ◽  
Mass Lesion ◽  
Erdheim Chester Disease ◽  
Pet Ct ◽  
Fdg Pet Ct ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare, idiopathic, systemic non-Langerhans cell histiocytosis involving long bone and visceral organs. Central nervous system (CNS) involvement is uncommon and most cases develop as a part of systemic disease. We present a rare case of variant ECD as an isolated intramedullary tumor. Case presentation A 75-year-old female patient with a medical history of diabetes and hypertension presented with sudden-onset flaccid paraparesis for 1 day. Neurological examination revealed grade 2–3 weakness in both legs, decreased deep tendon reflex, loss of anal tone, and numbness below T4. Leg weakness deteriorated to G1 before surgery. Preoperative magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showed an intramedullary mass lesion at T2-T4 with no systemic lesion, which was heterogeneous enhancement pattern with cord swelling and edema from C7 to T6. Gross total removal was achieved for the white-gray-colored and soft-natured intramedullary mass lesion with an ill-defined boundary. Histological finding revealed benign histiocytic proliferation with foamy histiocytes and uniform nuclei. We concluded it as an isolated intramedullary ECD. The patient showed self-standing and walkable at 18-month with no evidence of recurrence and new lesion on spine MRI and whole-body FDG-PET/CT until sudden occurrence of unknown originated thoracic cord infarction. Conclusions We experienced an extremely rare case of isolated intramedullary ECD, which was controlled by surgical resection with no adjuvant therapy. Histological examination is the most important for final diagnosis, and careful serial follow-up after surgical resection is required to identify the recurrence and progression to systemic disease.

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