Academic Journal

Langerhans cell histiocytosis in the glenoid neck with rare mutation: A case report

التفاصيل البيبلوغرافية
العنوان: Langerhans cell histiocytosis in the glenoid neck with rare mutation: A case report
المؤلفون: José David Cardona Ortegón, MD, Valentina Ferrer Valencia, MD Student, María Mónica Yepes, MD (In-training), Sandra Patricia Maldonado, MD (In-training), Hernan Dario Paez Rueda, MD, Mauricio Palau-Lazaro, MD, Luisa Maria Muñoz Quiroga, MD, Salim Nayib Cueter Paternina, MD, Jose Valderrama Quintana, MD
المصدر: Radiology Case Reports, Vol 18, Iss 3, Pp 979-983 (2023)
بيانات النشر: Elsevier, 2023.
سنة النشر: 2023
المجموعة: LCC:Medical physics. Medical radiology. Nuclear medicine
مصطلحات موضوعية: Shoulder pain, Osseous lesion, Langerhans cell histiocytosis, Mutation, BRAF V600E gene, Medical physics. Medical radiology. Nuclear medicine, R895-920
الوصف: Langerhans cell histiocytosis (LCH) is a rare disease that occurs mainly in children. It has several forms of clinical presentation. Early diagnosis is important for better results. A 17-year-old male patient presented with right sharp shoulder pain for 2 months. Magnetic resonance image (MRI) of the shoulder showed an expansile osseous lesion in the anterosuperior spine of the right scapula with significant edema that causes compression of the subscapular neurovascular bundle. A CT scan and X-rays were also performed. Overall, all the images suggested a lesion compatible with chondroblastoma; however, the pathology images documented a Langerhans cell histiocytosis with a mutation in the V600E/E2/D in the 15 exon of the BRAF gene. LCH is a difficult diagnosis, especially in cases where clinical presentation is not the most common. This case is unique as the lesion developed not only in the scapula which has a 3% prevalence in LCH, but also had radiographic and MRI characteristics of a chondroblastoma more than the typical LCH lesion. Additionally, it was accompanied by a BRAF V600E mutation which is uncommon in LCHs bone cases.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1930-0433
Relation: http://www.sciencedirect.com/science/article/pii/S1930043322010834; https://doaj.org/toc/1930-0433
DOI: 10.1016/j.radcr.2022.12.016
URL الوصول: https://doaj.org/article/ff57913d57f64260af64217e6a8e5099
رقم الانضمام: edsdoj.ff57913d57f64260af64217e6a8e5099
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:19300433
DOI:10.1016/j.radcr.2022.12.016