Image in medicine
Resolution of cardiac involvement with cobimetinib in Erdheim–Chester disease
Resolución de la afectación cardiaca con cobimetinib en enfermedad de Erdheim-Chester
Silvia Suárez-Díaza,
, Joaquín Bernardo-Cofiñob, José Antonio Fernández-Villameytidec, Luis Caminal-Monterod
Corresponding author
a Internal Medicine Department, Hospital Universitario Central de Asturias, Spain
b Internal Medicine Department, Centro Médico de Asturias, Oviedo, Spain
c Radiology Department, Centro Médico de Asturias, Oviedo, Spain
d Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Internal Medicine Department, Hospital Universitario Central de Asturias, Oviedo, Spain
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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 BRAF<span class="elsevierStyleSup">V600E</span> mutation-negative. Bone marrow aspirate also showed the absence of the BRAF<span class="elsevierStyleSup">V600E</span> mutation. Transthoracic echocardiography and cardiac MRI were then performed, and the results were normal. The patient was then treated with low-dose steroids.</p><p id="par0010" class="elsevierStylePara elsevierViewall">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>; <span class="elsevierStyleItalic">thin arrow</span>). 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interferon α-2a was started, and the disease remained stable, but due to poor tolerance to treatment, this was withdrawn by patient decision in 2017.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 40<span class="elsevierStyleHsp" style=""></span>mg/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.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">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.</p><p id="par0020" class="elsevierStylePara elsevierViewall">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.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Treatment of ECD consists of the BRAF inhibitor vemurafenib if the BRAF<span class="elsevierStyleSup">V600E</span> mutation is present. However, up to 30% of cases do not have the BRAF<span class="elsevierStyleSup">V600E</span> 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.</p><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Human/animal rights</span><p id="par0040" class="elsevierStylePara elsevierViewall">This 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.</p></span><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">All the authors have no funding to report.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">All the authors declare that we have no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0015" "titulo" => "Human/animal rights" ] 1 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 2 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflict of interest" ] 3 => array:2 [ "identificador" => "xack763631" "titulo" => "Acknowledgment" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2023-10-02" "fechaAceptado" => "2023-11-22" "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 884 "Ancho" => 1233 "Tamanyo" => 122953 ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack763631" "titulo" => "Acknowledgment" "texto" => "<p id="par0045" class="elsevierStylePara elsevierViewall">We thank Dr. Julian Haroche of Pitié-Salpêtrière Hospital, Paris, for his collaboration in the interpretation and clinical management of the patient.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/00257753/0000016300000003/v1_202408050432/S0025775324000204/v1_202408050432/en/main.assets" "Apartado" => array:4 [ "identificador" => "64289" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Imágenes médicas" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00257753/0000016300000003/v1_202408050432/S0025775324000204/v1_202408050432/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775324000204?idApp=UINPBA00004N" ]
