Case 1 - Erdheim Chester Disease IAP 2018 Jordan Charles Eberhart - - PowerPoint PPT Presentation

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Jan 20, 2024 189 likes •549 views

Case 1 - Erdheim Chester Disease IAP 2018 Jordan Charles Eberhart MD PhD Professor of Pathology, Ophthalmology and Oncology Johns Hopkins University Clinical History 58-year-old male Waxing and waning periocular headaches Swelling

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Case 1 - Erdheim Chester Disease IAP 2018 Jordan

Charles Eberhart MD PhD Professor of Pathology, Ophthalmology and Oncology Johns Hopkins University

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Clinical History

58-year-old male
Waxing and waning periocular

headaches

Swelling and blurred vision eventually

developed (L>R).

Ophthalmologic exam

– Trace left afferent pupillary defect – Extraocular movements showed about 85% of elevation of the left eye – Slit-lamp examination was unremarkable

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Clinical History Radiology Findings

Bilateral intraconal

masses

Intracranial masses
Pituitary, brainstem
Retroperitoneum,

pericardium, periaortic soft tissue

Bone changes

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CD68

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S100 CD1A

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BRAF (V600E) (VE1) antibody

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BRAF (V600E)

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Erdheim-Chester Disease Clinical Findings

Usually presents in adults
Bilateral, symmetrical bone involvement

most characteristic finding

Bone pain most frequent symptom
Extraskeletal involvement>50% which may

lead to diabetes insipidus, neurologic symptoms, dyspnea, pericardial effusions, kidney and liver failure

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Differential Diagnosis Clinical/Orbit

Adult Onset Xanthogranuloma Adult onset asthma and periocular xanthogranuloma Necrobiotic xanthogranuloma

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BRAF (V600E) in 13/24 (54%) of cases of ECD,

11/29 (38%) of LCH

Absent in the remainder of non-LCH lesions tested,

including Rosai-Dorfman disease, juvenile xanthogranuloma, histiocytic sarcoma, xanthoma disseminatum, interdigitating dendritic cell sarcoma, and necrobiotic xanthogranuloma

Blood 2012

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BLOOD 2013

3 patients with

refractory ECD and BRAF (V600E) mutation

Treated with the

inhibitor vemurafenib

All three patients

responded with a decrease in symptoms and disease burden

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Clinical Follow-Up

1 month after starting vemurafenib

Decreased size of brainstem lesion and mass effect
Decreased size of orbital lesions

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Acknowledgments

Prem Subramanian M.D.
Fausto Rogdriguez M.D.

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Case 2 - Intraocular Extension Of An IDH Mutant Glioblastoma

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Chief Complaint

42yo F with complicated PMH, presenting to JHH ED 7/17/16 for sudden vision loss in the right eye

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Past Medical History

Left frontal anaplastic astrocytoma, WHO Grade III Diagnosed June 2011 Tx: resection + adjuvant temozolomide Progression noted May 2015 Tx: surgical resection + Gliadel wafers + Rad (4,500 cGy) + temozolomide Bx: Glioblastoma, IDH1 mutant

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Past Medical History – cont’d

Feb 2016: MRI showing likely recurrence with extension into the corpus collosum– no surgical intervention Started on MEDI4736 (PD-1 Inhibitor) and Avastin infusions

T1 post-contrast

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MRI Brain + Orbits; MRA Head

Interval progression of disease involving the left frontal and left temporal lobes, as well as the left of midline corpus callosum and adjacent parietal lobe as described above Patent intracranial vasculature Increased T2 hyperintensity of the right optic nerve . There is mild asymmetrically increased enhancement of the optic nerve sheath on the right.

T2 FLAIR T1 post-Gad

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Clinical Course

Baseline comparison 4/28/2016

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Next step?

7/22/16: Pars plana vitrectomy with biopsy Cultures – coagulase negative staph (two different strains) Cytopathology…

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Vitrectomy Specimen

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GFAP OLIG2

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P53 ki67

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IDH1 (R132H) ATRX

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