Case report: Targeted treatment strategies for Erdheim-Chester disease

Anita Gulyás; László Imre Pinczés; János Mátyus; Edit Végh; Judit Bedekovics; Judit Tóth; Sándor Barna; Zsolt Hunya; Imre Lőrinc Szabó; Annamária Gazdag; Árpád Illés; Ferenc Magyari

doi:10.3389/fonc.2024.1305518

Case report: Targeted treatment strategies for Erdheim-Chester disease

Front Oncol. 2024 Mar 14:14:1305518. doi: 10.3389/fonc.2024.1305518. eCollection 2024.

Authors

Anita Gulyás^#¹, László Imre Pinczés^#^{1

2}, János Mátyus³, Edit Végh⁴, Judit Bedekovics⁵, Judit Tóth⁶, Sándor Barna⁷, Zsolt Hunya⁸, Imre Lőrinc Szabó⁹, Annamária Gazdag¹⁰, Árpád Illés^{1

2}, Ferenc Magyari^{1

2}

Affiliations

¹ Division of Hematology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
² Doctoral School of Clinical Medicine, University of Debrecen, Debrecen, Hungary.
³ Division of Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁴ Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁵ Department of Pathology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁶ Department of Oncology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁷ Division of Nuclear Medicine and Translational Imaging Department of Medical Imaging, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁸ Department of Orthopaedics and Traumatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
⁹ Department of Dermatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
¹⁰ Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

^# Contributed equally.

Abstract

Introduction: Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib.

Objective: Our aim is to present the results of three male patients treated in our hematology department.

Results: Our BRAF mutation-positive patient presented with retroperitoneal tissue proliferation and diabetes insipidus. The initial therapy of choice was dabrafenib. After 3 months of treatment, ¹⁸F-fluoro-deoxyglucose positron emission tomography (FDG-PET)/computed tomography (CT) scans showed regression, and after 2 years of treatment, no disease activity was detected. In our second patient, a recurrent febrile state (not explained by other reasons) and diabetes insipidus suggested the diagnosis. A femoral bone biopsy confirmed BRAF-negative ECD. The first-line therapy was interferon-alpha. After 3 months of treatment, no response was observed on ¹⁸FDG-PET/CT, and treatment with cobimetinib was started. The control ¹⁸FDG-PET/CT imaging was negative. Our third patient was evaluated for dyspnea, and a CT scan showed fibrosis with hilar lymphadenomegaly. A lung biopsy confirmed BRAF-negative ECD. We started treatment with interferon-alpha, but unfortunately, no improvement was observed. Second-line treatment with cobimetinib resulted in a partial metabolic response (PMR) according to control ¹⁸FDG-PET/CT.

Conclusions: Our results demonstrate that an appropriately chosen treatment can lead to a good therapeutic response, but dose reduction may be necessary due to side effects. With advanced targeted therapeutic treatment options, survival and quality of life are significantly improved.

Keywords: BRAF inhibitors; Erdheim-Chester disease (ECD); PET/CT; cobimetinib; histiocytosis; interferon alpha; myeloid neoplasm.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. Funding is provided by the University of Debrecen.