郎格汉斯细胞组织细胞增生症合并Erdheim-Chester病一例报告及文献复习  

Erdheim-Chester disease accompanied with Langerhans cell histiocytosis:a case report and literature review

作　　者：李全晋 李明[2] 薛新新 展文震 李智明 Li Quanjin;Li Ming;Xue Xinxin;Zhan Wenzhen;Li Zhiming(School of Clinical Medicine,Shandong Second Medical University,Weifang 261053,China;Department of Pathology,Qilu Hospital of Shandong University De Zhou Hospital,Dezhou 253011,China;Department of Spine Surgery,Qilu Hospital of Shandong University De Zhou Hospital,Dezhou 253011,China)

机构地区：[1]山东第二医科大学临床医学院,潍坊261053 [2]山东大学齐鲁医院德州医院病理科,德州253011 [3]山东大学齐鲁医院德州医院脊柱外科,德州253011

出　　处：《中华骨科杂志》2025年第3期187-191,共5页Chinese Journal of Orthopaedics

摘　　要：报告1例胫骨郎格汉斯细胞组织细胞增生症(Langerhans cell histiocytosis,LCH)合并Erdheim-Chester病(Erdheim-Chester disease,ECD)。女,55岁,无明显诱因出现左小腿疼痛6个月,伴活动受限;疼痛加重1个月。X线片示双侧胫腓骨中下段髓腔内斑片状高低混杂密度影。MRI示左胫腓骨下段、左距骨及跟骨骨质内见大片状异常信号影。PET-CT示双侧股骨中下段、胫骨上下段、双侧距骨及桡骨远端弥漫性放射性摄取明显增高,双侧肘关节对称性放射性摄取增高,双侧锁骨及右侧股骨上段可见轻度核素摄取增高。初步诊断为胫骨占位,怀疑ECD。左侧胫骨病灶活检,考虑为组织细胞增生性疾病。经会诊诊断为LCH伴纤维增生及大量泡沫细胞浸润,散在多核巨细胞,结合BRAFV600E基因突变,符合合并ECD。行干扰素α皮下注射治疗,2年后肺部出现病灶,CT示双肺类圆形结节,双肺慢性炎性病灶,双肺纤维条索灶。停用干扰素,改为口服维莫非尼(vemurafenib)治疗。随访3年后复查胸部CT示双肺慢性炎性灶明显减轻,双肺纤维条索灶减少,类圆形结节较前缩小。目前随访4年余,患者一般状态良好,身体无明显不适,维莫非尼维持治疗。文献检索显示LCH合并ECD者罕见,易误、漏诊,目前尚无治疗标准,存在BRAFV600E突变患者可选择BRAF抑制剂治疗。A rare case of Langerhans cell histiocytosis(LCH)combined with Erdheim-Chester disease(ECD)in the tibia is presented.A 55-year-old female patient experienced a six-month history of left lower leg pain of unknown origin,which progressively worsened over the past month and was accompanied by restricted mobility.Radiographic imaging revealed patchy,mixed-density shadows within the medullary cavities of the middle and lower segments of both tibiae and fibulae.Magnetic resonance imaging(MRI)showed extensive abnormal signal areas in the lower segments of the left tibia and fibula,as well as in the left talus and calcaneus.Positron emission tomography-computed tomography(PET-CT)demonstrated significantly increased diffuse radioactive uptake in the middle and lower segments of both femora,the upper and lower segments of the tibiae,the bilateral talus,the distal radius,and symmetrical uptake in the bilateral elbow joints.Additionally,mild radionuclide uptake was observed in the bilateral clavicles and the upper segment of the right femur.The initial diagnosis suggested a space-occupying lesion in the tibia with a suspicion of ECD.Histopathological examination of a biopsy from the left tibial lesion indicated a histiocytic proliferative disorder.After a multidisciplinary consultation,a definitive diagnosis of LCH with fibrous hyperplasia and extensive infiltration of foam cells,along with scattered multinucleated giant cells,was established.The presence of the BRAFV600E mutation further supported the concurrent diagnosis of ECD.Subcutaneous interferon-αtherapy was initiated.Two years later,pulmonary lesions were identified.Computed tomography(CT)revealed multiple round nodules in both lungs,chronic inflammatory changes,and fibrous cord-like lesions.Consequently,interferon treatment was discontinued,and oral vemurafenib was administered.After three years of follow-up,chest CT demonstrated a significant reduction in chronic inflammatory lesions and fibrous cords,along with a decrease in nodule size.Currently,after four year

关 键 词：胫骨 组织细胞增多症 郎格尔汉斯细胞 ERDHEIM-CHESTER病 突变 BRAFV600E基因 

分 类 号：R687.3[医药卫生—骨科学] R597[医药卫生—外科学]