Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
School of Medicine, Tsinghua University, Beijing, 100084, China.
Ann Hematol. 2024 Nov;103(11):4459-4466. doi: 10.1007/s00277-024-06034-x. Epub 2024 Oct 9.
Langerhans cell histiocytosis (LCH) is a heterogeneous histiocytosis characterized by proliferation of Langerhans cells. While less common, manifestations of digestive tract involvement in LCH remain largely unrevealed. We conducted a retrospective analysis of demographics, clinical, endoscopic, genetic and follow-up data from 13 adult patients with pathologically confirmed gastrointestinal involvement of LCH (LCH-GI), in a single-center cohort of 465 patients. Digestive tract involvement was observed in 2.80% of LCH patients. At LCH-GI diagnosis, 7 patients (53.8%) had unifocal lesions, and 6 patients (46.2%) had multisystem disease. 6 patients (46.2%) experienced no gastrointestinal symptoms at LCH-GI onset, while others were symptomatic. Stomach was most commonly affected (61.5%), followed by esophagus (23.1%), colon (7.7%) and anus (7.7%). Endoscopic findings varied among 12 patients, including submucosal bulge (8 patients, 66.7%) and non-bulging lesions (4 patients, 33.3%) such as erosions, coarse granular mucosa, and regional abnormal coloration. Among 8 patients with genetic analysis, BRAF mutation was detected in 5 patients (62.5%). The estimated 1-year overall survival rate was 91.7%. Progression-free survival of patients with submucosal bulges under endoscopy was significantly better than those with non-bulging lesions. This study presents 13 cases of LCH with digestive tract involvement. We emphasize the importance of endoscopy and biopsy for pathological examination of lesions such as submucosal bulges and erosions under endoscopy to assist in early detection of LCH. Comprehensive systemic assessment and regular endoscopic monitoring are essential in patient management. Treatment should be individualized with dynamic adjustments during follow-up.
朗格汉斯细胞组织细胞增生症（LCH）是一种以朗格汉斯细胞增生为特征的异质性组织细胞增生症。尽管较为少见，但 LCH 消化道受累的临床表现仍很大程度上未被揭示。我们对 465 例患者中的 13 例经病理证实存在 LCH 消化道受累（LCH-GI）的成人患者的人口统计学、临床、内镜、遗传和随访数据进行了回顾性分析。在 LCH 患者中，消化道受累占 2.80%。在 LCH-GI 诊断时，7 例患者（53.8%）存在单病灶病变，6 例患者（46.2%）存在多系统疾病。6 例患者（46.2%）在 LCH-GI 发病时无胃肠道症状，而其他患者则有症状。最常受累的部位是胃（61.5%），其次是食管（23.1%）、结肠（7.7%）和肛门（7.7%）。12 例患者的内镜表现各异，包括黏膜下隆起（8 例，66.7%）和非隆起性病变（4 例，33.3%），如糜烂、粗颗粒状黏膜和区域性异常颜色。在 8 例行基因分析的患者中，检测到 5 例（62.5%）BRAF 突变。估计 1 年总生存率为 91.7%。内镜下黏膜下隆起患者的无进展生存率明显优于非隆起性病变患者。本研究报告了 13 例 LCH 伴消化道受累病例。我们强调内镜和活检对于黏膜下隆起和内镜下糜烂等病变的病理检查的重要性，以帮助早期发现 LCH。对患者进行全面的系统评估和定期内镜监测至关重要。治疗应个体化，并在随访过程中进行动态调整。
