Update Information for June 13, 2014 (V 2.47)

The “What is ECD?” page was updated to provide more current information regarding ECD symptoms, treatments, and clinical management based on the most current research.

The “Main” page was modified to include a film produced by the Histiocytosis Association with Dr. Robert Arceci providing an Overview of Erdheim-Chester Disease (ECD).

The “ECD Studies” page was updated to provide information about three new treatment monitoring studies:

1. Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease (LOVE).  The purpose of this trial is to evaluate the possibility of vemurafenib treatment interruption. Other BRAF inhibitors, such as dabrafenib, have recently been proposed for treating BRAF mutated histiocytoses. Other BRAF inhibitor interruption treatment should also be prospectively evaluated.
2. Detection of BRAF mutations in urine and plasma cell-free DNA: Application to the diagnosis and management of histiocytic disorder patients.  The purpose of this study is to detect and quantitatively assess BRAF V600E mutations in tumor derived cell-free (cf) DNA to monitor response to RAF targeted therapy in a large series of histiocytosis patients.
3. Longitudinal monitoring of BRAF V600E mutation in urinary cell-free DNA of patients with metastatic cancers and Erdheim Chester Disease Study.  The purpose of this open-label, multi-center study is to assess the detection and monitoring of BRAF V600E mutational tumor load. The study is open to ECD patients with BRAF V600 mutation positive lesions.

The “Patient-to-Patient” page was updated to include some new news articles that were published about ECD and the patients who live with the disease.

Bold Initiative to Transform Cancer Care

A video from Memorial Sloan-Kettering Cancer Center in New York that features an ECD patient, Rita, who is currently enrolled in the vemurafenib trial.  Rita’s is a remarkable story that begins at the 2 minute, 22 second mark of this 5-1/2 minute video.

The “Grants” and “Main” pages were modified to communicate that Letters of Intent related to the 2014 ECD-GA Grant award cycle were due on April 1, 2014.  Anyone with interest in doing ECD research is encouraged to contact the organization at support@erdheim-chester.org.

The Case Locations as found on the “Patient-to-Patient” and “ECD Global Alliance” pages, were updated.

Physicians familiar with ECD were added to the “Physicians” page.  Added information is as follows:

Chezi Ganzel, MD
Department of Hematology
Shaare Zedek Medical Center
P.O.B. 3235
91031 Jerusalem, Israel
e-mail:  ganzelct@yahoo.com

Armin Ghobadi, MD
Assistant Professor of Medicine
Washington University School of Medicine
Division of Medical Oncology
Section of Stem Cell Transplant and Leukemia
660 S. Euclid Avenue
Campus Box 8007
St. Louis, MO 63110  USA
Telephone:  314-454-8323

Julio Hajdenberg, MD
UF Health Cancer Center
1400 S Orange Ave
Orlando FL 32806 USA
Telephone:  407-648-3800

Javier Munoz, MD
Banner MD Anderson Cancer Center
2946 E. Banner Gateway Drive
Gilbert, AZ 85234  USA
Telephone:  480-256-6444

Douglas E. Ney, MD
Anschutz Cancer Pavilion
University of Colorado Hospital
1665 Aurora Court, Suite CP-2033
Aurora, CO 80045  USA
Telephone: 720-848-0300

A physical therapist, familiar with ECD, was added to the “Physicians” page.  Her information is as follows:

Malin Sinclair
Holmögatan 12b
25734 Rydebäck  SWEDEN
e-mail:  malinolycka@gmail.com

Links were added to the list of published articles, accessible without charge on the internet, as found on the “Technical Papers Published Papers” page.  They are:

1. Arceci RJ.
   Biological and Therapeutic Implications of the BRAF Pathway in Histiocytic Disorders
   Am Soc Clin Oncol Educ Book. 2014;34:e441-5. doi: 10.14694/EdBook_AM.2014.34.e441
2. Hariharan U, Goel AV, Sharma D.
   Erdheim – Chester disease: Clinical pearls for the anesthesiologist
   J Anaesthesiol Clin Pharmacol. 2014 Apr;30(2):297-8. doi: 10.4103/0970-9185.130127

New entries were made to the “Abstracts of Published Papers” as listed under the “Technical Papers” selection for recently published papers. The additions are as follows:

1. An article published in J Clin Neurosci.  The article entitled, “Mistaken identity: Granular cell astrocytoma masquerading as histiocytosis of the central nervous system” includes an abstract.
2. An article published in Ann Rheum Dis.  The article entitled, “BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease” includes an abstract.
3. An article published in Ann Rheum Dis.  The article entitled, “An ophthalmologic diagnostic error leading to a rare systemic diagnosis: Erdheim-Chester disease” includes an abstract.
4. An article published in Ann Vasc Surg.  The article entitled, “Bilateral Renal Artery Involvement of Erdheim-Chester Disease” includes an abstract.
5. An article published in Neurosurg.  The article entitled, “Cerebral Erdheim-Chester Disease Mimicking High-Grade Glial Tumor: A Case Report” includes an abstract.
6. An article published in Neurologia.  The article entitled, “Neurological manifestations in Erdheim-Chester disease: Two case reports” is published in Spanish without an abstract.
7. An article published in J Neuroophthalmol.  The article entitled, “Homonymous Hemianopia Due to Erdheim-Chester Disease” includes an abstract.
8. An article published in Mod Rheumatol.  The article entitled, “Rapid progression to cardiac tamponade in Erdheim-Chester disease despite treatment with interferon alpha” includes an abstract.
9. An article published in Histopathology.  The article entitled, “An NRAS mutation in a case of Erdheim Chester disease” includes an abstract.
10. An article published in Int J Cardiol.  The article entitled, “Constrictive pericarditis in Erdheim-Chester disease: An integrated echocardiographic and magnetic resonance approach” includes an abstract.
11. An article published in Urology.  The article entitled, “Urologic Manifestations of Erdheim-Chester Disease” includes an abstract.
12. An article published in J Anaesthesiol Clin Pharmacol.  The article entitled, “Erdheim – Chester disease: Clinical pearls for the anesthesiologist” does not include an abstract.
13. An article published in Mayo Clin Proc.  The article entitled, “Erdheim-Chester Disease: Characteristics and Management” includes an abstract.
14. An article published in Blood.  The article entitled, “Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease” includes an abstract.
15. An article published in Am Soc Clin Oncol Educ Book.  The article entitled, “Biological and Therapeutic Implications of the BRAF Pathway in Histiocytic Disorders” includes an abstract.
16. An article published in Clin Nucl Med.  The article entitled, “Visualization of Orbital Involvement of Erdheim-Chester Disease on PET/CT” includes an abstract.
17. An article published in Rev Med Interne.  The article entitled, “Erdheim-Chester disease” includes an abstract.

The article, “Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease” is of particular notice in that it is the first time a comprehensive and multidisciplinary group of scientists and physicians engaged in the investigation and treatment of ECD convened to establish consensus recommendations for ECD diagnosis and therapy.

Chat summaries were added to the “Chat Room” page.

Information was added to the “Caregiver Info” page, stating that those ECD caregivers who wish to connect with other caregivers can contact the ECD Global Alliance.