Department of Pathology, University of North Dakota School of Medicine and Health Sciences, Grand Forks, ND, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Am J Case Rep. 2022 Nov 21;23:e937628. doi: 10.12659/AJCR.937628.
BACKGROUND Langerhans cell histiocytosis (LCH) is a rare condition caused by a neoplastic proliferation of myeloid cells. It can present as a single-system or multi-system disorder. Worse prognosis is associated with the hematopoietic system (spleen, liver, bone marrow), which is routinely observed in multi-system disease. Because of the varied presentation of this disorder, diagnosis can be difficult, and therefore suitable treatment can be delayed. CASE REPORT We report a case of hepatic LCH in a 51-year-old man who presented with epigastric abdominal pain, with imaging demonstrating a hepatic nodule. A low ejection fraction on hepatobiliary iminodiacetic acid scan suggested chronic cholecystitis. Therefore, the patient underwent a cholecystectomy for biliary dyskinesia, in which liver nodules were noted, and biopsies were taken. The biopsies demonstrated characteristic findings of LCH along with positive immunohistochemical markers and negative BRAF V600E mutation. Radiologic and pathologic findings were consistent with LCH within the liver, associated with bile duct injury and mild biliary obstruction. The patient was placed on a cladribine regimen. His abdominal pain improved. CONCLUSIONS LCH limited to the liver is uncommon and can appear as chronic biliary disease, as was suspected in this case. Despite the poor prognosis of hematopoietic LCH, early recognition can lead to better outcome and chemotherapy susceptibility. This patient was most likely in the first stage of liver LCH, given his presentation, which could have aided his response to chemotherapy. The lack of BRAF V600E mutation could have contributed to a positive prognosis and more possibilities for treatment.
朗格汉斯细胞组织细胞增生症(LCH)是一种由髓系细胞肿瘤性增殖引起的罕见疾病。它可以表现为单一系统或多系统疾病。造血系统(脾脏、肝脏、骨髓)受累与更差的预后相关,这在多系统疾病中常规观察到。由于这种疾病的表现多种多样,诊断可能具有挑战性,因此可能会延迟适当的治疗。
我们报告了一例 51 岁男性肝 LCH 病例,其表现为上腹痛,影像学显示肝结节。肝胆碘[123I]酸钠扫描提示低射血分数,提示慢性胆囊炎。因此,患者因胆动障碍而行胆囊切除术,术中发现肝结节并进行活检。活检显示 LCH 的特征性表现,免疫组化标志物阳性,BRAF V600E 突变阴性。放射学和病理学表现与肝内 LCH 一致,伴有胆管损伤和轻度胆道梗阻。患者接受克拉屈滨治疗。其腹痛改善。
局限于肝脏的 LCH 并不常见,可能表现为慢性胆道疾病,本例即如此怀疑。尽管造血系统 LCH 预后不良,但早期识别可改善预后并提高化疗敏感性。鉴于该患者的临床表现,其可能处于肝 LCH 的第一阶段,这有助于其对化疗的反应。缺乏 BRAF V600E 突变可能有助于预测良好的预后并提供更多的治疗选择。