Neurologic and oncologic features of Erdheim–Chester disease: a 30-patient series

Abstract Background Erdheim–Chester disease (ECD) is a rare histiocytic neoplasm characterized by recurrent alterations in the MAPK (mitogen-activating protein kinase) pathway. The existing literature about the neuro-oncological spectrum of ECD is limited. Methods We present retrospective clinical, radiographic, pathologic, molecular, and treatment data from 30 patients with ECD neurohistiocytic involvement treated at a tertiary center. Results Median age was 52 years (range, 7–77), and 20 (67%) patients were male. Presenting symptoms included ataxia in 19 patients (63%), dysarthria in 14 (47%), diabetes insipidus in 12 (40%), cognitive impairment in 10 (33%), and bulbar affect in 9 (30%). Neurosurgical biopsy specimens in 8 patients demonstrated varied morphologic findings often uncharacteristic of typical ECD lesions. Molecular analysis revealed mutations in BRAF (18 patients), MAP2K1 (5), RAS isoforms (2), and 2 fusions involving BRAF and ALK. Conventional therapies (corticosteroids, immunosuppressants, interferon-alpha [IFN-α], cytotoxic chemotherapy) led to partial radiographic response in 8/40 patients (20%) by MRI with no complete responses, partial metabolic response in 4/16 (25%), and complete metabolic response in 1/16 (6%) by 18F-fluorodeoxyglucose (FDG)-PET scan. In comparison, targeted (kinase inhibitor) therapies yielded partial radiographic response in 10/27 (37%) and complete radiographic response in 14/27 (52%) by MRI, and partial metabolic response in 6/25 (24%) and complete metabolic response in 17/25 (68%) by FDG-PET scan. Conclusions These data highlight underrecognized symptomatology, heterogeneous neuropathology, and robust responses to targeted therapies across the mutational spectrum in ECD patients with neurological involvement, particularly when conventional therapies have failed.

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Evaluation of the correlation of complete metabolic response with 18-FDG PET scan and complete pathologic response induced by neoadjuvant chemotherapy for colorectal liver metastases

Journal of Clinical Oncology ◽

10.1200/jco.2008.26.15_suppl.4070 ◽

2008 ◽

Vol 26 (15_suppl) ◽

pp. 4070-4070 ◽

Cited By ~ 1

Author(s):

A. Covas ◽

L. Amininejad ◽

V. Lucidi ◽

G. Liberale ◽

A. Hendlisz ◽

...

Keyword(s):

Neoadjuvant Chemotherapy ◽

Liver Metastases ◽

Fdg Pet ◽

Colorectal Liver Metastases ◽

Metabolic Response ◽

Pathologic Response ◽

Pet Scan ◽

Complete Pathologic Response ◽

Complete Metabolic Response ◽

Fdg Pet Scan

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

BMC Musculoskeletal Disorders ◽

10.1186/s12891-021-04061-7 ◽

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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18F-FDG PET/CT versus anatomic imaging for evaluating disease extent and clinical trial eligibility in Erdheim-Chester disease: results from 50 patients in a registry study

European Journal of Nuclear Medicine and Molecular Imaging ◽

10.1007/s00259-020-05047-8 ◽

2020 ◽

Author(s):

Julian Kirchner ◽

Vaios Hatzoglou ◽

Justin B. Buthorn ◽

Dana Bossert ◽

Allison M. Sigler ◽

...

Keyword(s):

Clinical Trial ◽

Fdg Pet ◽

Registry Study ◽

Disease Extent ◽

Erdheim Chester Disease ◽

Pet Ct ◽

Measurable Disease ◽

Fdg Pet Ct ◽

Erdheim Chester ◽

Chester Disease

Abstract Objectives The aim of this study was to [1] characterize distribution of Erdheim-Chester Disease (ECD) by 18F-FDG PET/CT and [2] determine the utility of metabolic (18F-FDG PET/CT) imaging versus anatomic imaging (CT or MRI) in evaluating ECD patients for clinical trial eligibility. Methods 18F-FDG PET/CT and corresponding CT or MRI studies for ECD patients enrolled in a prospective registry study were reviewed. Sites of disease were classified as [1] detectable by 18F-FDG PET only, CT/MRI only, or both and as [2] measurable by modified PERCIST (mPERCIST) only, RECIST only, or both. Descriptive analysis was performed and paired t test for between-group comparisons. Results Fifty patients were included (mean age 51.5 years; range 18–70 years). Three hundred thirty-three disease sites were detected among all imaging modalities, 188 (56%) by both 18F-FDG PET and CT/MRI, 67 (20%) by 18F-FDG PET only, 75 (23%) by MRI brain only, and 3 (1%) by CT only. Of 178 disease sites measurable by mPERCIST or RECIST, 40 (22%) were measurable by both criteria, 136 (76%) by mPERCIST only, and 2 (1%) by RECIST only. On the patient level, 17 (34%) had mPERCIST and RECIST measurable disease, 30 (60%) had mPERCIST measurable disease only, and 0 had RECIST measurable disease only (p < 0.0001). Conclusion Compared with anatomic imaging, 18F-FDG PET/CT augments evaluation of disease extent in ECD and increases identification of disease sites measurable by formal response criteria and therefore eligibility for clinical trials. Complementary organ-specific anatomic imaging offers the capacity to characterize sites of disease in greater anatomic detail. Trial registration ClinicalTrials.gov Identifier: NCT03329274

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