三例BRAF突变阴性的 Erdheim-Chester 病，与IgG4相关性疾病的鉴别诊断具有挑战性。
Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease.
作者信息
Spoerl David, André Raphaël, Bornand Aurélie, Seebach Jörg D
机构信息
Division of Immunology and Allergy, Department of Medicine, University Hospital, Rue Gabrielle-Perret-Gentil 4, 1205, Geneva, Switzerland.
Division of Clinical Pathology, Department of Diagnostics, University Hospital and Medical Faculty, Geneva, Switzerland.
出版信息
Allergy Asthma Clin Immunol. 2021 Jan 6;17(1):6. doi: 10.1186/s13223-020-00505-2.
BACKGROUND
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose.
CASES
Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics.
CONCLUSION
A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy.
背景
Erdheim-Chester病（ECD）是一种罕见的非朗格汉斯组织细胞增多症，多年来进展缓慢，尤其难以诊断。
病例
在此，我们报告3例无BRAF突变的ECD病例，其表现为肾脏肿块、毛肾外观，病程相对良性，ECD诊断延迟，其特征为进行了多项检查且治疗尝试未成功。在2例病例中，与IgG4相关疾病的鉴别需要进行多项检查，并重新评估临床、放射学、组织学和免疫学特征。
结论
ECD的正确诊断可能需要数年时间，且通常需要重新审视先前的假设。重新评估组织学切片以及更现代的辅助检查，如PET-CT或BRAF和MAPK-ERK突变分析，有助于确诊ECD并选择有效的治疗方法。
Zotero 插件