Resolution of cardiac involvement with cobimetinib in Erdheim–Chester disease

Suárez-Díaz, Silvia; Bernardo-Cofiño, Joaquín; Fernández-Villameytide, José Antonio; Caminal-Montero, Luis

doi:10.1016/j.medcli.2023.11.039

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A skin biopsy showed histiocytic infiltration (CD1a+ S100+), and another biopsy of the perirenal fat showed infiltration by CD1a− and CD68+ cells, which were BRAFV600E mutation-negative. Bone marrow aspirate also showed the absence of the BRAFV600E mutation. Transthoracic echocardiography and cardiac MRI were then performed, and the results were normal. The patient was then treated with low-dose steroids.In 2015, infiltration of the ascending aorta and a pseudotumor in the right atrium were observed on CT. A 18F-FDG PET/CT was performed, and the images obtained showed areas with intense radiotracer avidity in the marked areas (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1A and B</a>; thin arrow). In view of this, treatment with weekly pegylated interferon α-2a was started, and the disease remained stable, but due to poor tolerance to treatment, this was withdrawn by patient decision in 2017. In January 2021, after clinical worsening with admissions for heart failure it was decided to start off-label treatment cobimetinib 40mg/day, 21 days/month, presenting resolution of the hypermetabolic foci of the atrial and periadvential lesions in the thoracic aorta after 15 months (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1C and D</a>) treatment that he continues to receive 24 months later.<elsevierMultimedia ident="fig0005"></elsevierMultimedia>Histiocytosis constitutes a rare and heterogeneous group of disorders characterized by the infiltration of myeloid cells with various macrophage or dendritic cell phenotypes into almost any organ. Diagnosis is based on histology in combination with appropriate clinical and radiological findings.ECD is a type of non-Langerhans histiocytosis that usually affects adults. ECD has been included in the group of hematoinflammatory diseases, defined similarly to VEXAS, as being caused by somatic mutations in blood cells that produce systemic inflammation. Most ECD patients have mutations in the RAS-RAF-MEK-ERK pathway.Treatment of ECD consists of the BRAF inhibitor vemurafenib if the BRAFV600E mutation is present. However, up to 30% of cases do not have the BRAFV600E mutation, termed BRAF-wild-type ECD, and treatment is not well defined. For these patients, preliminary data have demonstrated the efficacy of the MEK inhibitor cobimetinib, which was approved for this indication by the FDA in 2022.Human/animal rightsThis article does not contain any studies with human or animal subjects performed by the any of the authors. Informed consent was obtained from the patient who participate in this article.FundingAll the authors have no funding to report.Conflict of interestAll the authors declare that we have no conflict of interest." 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