Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21231-2410, USA.
Am J Surg Pathol. 2011 Feb;35(2):305-10. doi: 10.1097/PAS.0b013e31820654e4.
Gastrointestinal (GI) tract involvement by Langerhans cell histiocytosis (LCH) is a rare condition. It is typically noted in male patients with systemic disease and is associated with both poor prognosis and high morbidity. The incidence peaks in childhood. However, a limited number of cases have been reported in adults. To further characterize this disease process, we collected 24 cases of GI tract LCH from 12 patients. The patients included 2 children (4 mo and 2.3 y) and 10 adults (40 to 77 y; mean, 58.4 y), with a female predominance (9 of 12, 75%). Both children presented with failure to thrive, bloody diarrhea, and anemia. In contrast, 5 of 10 (50%) adults were asymptomatic and the rest had unrelated symptoms. Endoscopically, the pediatric patients showed the involvement of the duodenum and multiple colonic sites. However, 8 of 10 (80%) adults presented with a solitary polyp, primarily involving the colorectum (7 of 8, 88%). The lesions ranged in size from 0.1 to 0.8 cm (mean, 0.4 cm), and were predominantly intramucosal (18 of 24, 75%) with either a marginated (14 of 24, 58%) or infiltrative (10 of 24, 42%) growth pattern. Microscopic features were similar to those of LCH found elsewhere, although some cases differed by showing prominent lymphocytes (12 of 24, 50%) rather than eosinophils and large nucleoli (2 of 24, 8%). Reactive overlying mucosal and entrapped epithelial changes (10 of 24, 42%), mucosal ulceration (3 of 24, 13%), focal necrosis (1 of 24), and multinucleated giant cells (1 of 24) were also identified. Mitotic figures were absent. On immunohistochemistry, all lesions expressed the S-100 protein and CD1a. Follow-up information was available for 11 (92%) patients ranging from 2 months to 5.3 years (mean, 1.8 y). One pediatric patient was lost to follow-up. However, the other patient developed multisystem disease and died 1 year after the initial diagnosis. Two adult patients developed cutaneous disease, 2 months and 2 years after the initial diagnosis, 1 of whom had multifocal colonic disease. On the basis of this study, GI tract LCH lesions present in both children and adults with a female predominance. Consistent with earlier reports, pediatric cases are associated with systemic disease and poor prognosis. However, in adults, LCH is typically encountered as an incidental, solitary polyp. Rare cases of systemic disease may occur and, therefore, close follow-up may be warranted.
胃肠道（GI）道朗格汉斯细胞组织细胞增生症（LCH）是一种罕见的病症。它通常发生在患有全身性疾病的男性患者中，与预后不良和高发病率有关。发病率在儿童时期达到高峰。然而，已有少数成年人发病的报道。为了进一步描述这种疾病过程，我们收集了 12 名患者的 24 例胃肠道 LCH 病例。患者包括 2 名儿童（4 个月和 2.3 岁）和 10 名成人（40 岁至 77 岁；平均年龄 58.4 岁），女性居多（12 名中的 9 名，75%）。两名儿童均表现为生长不良、血性腹泻和贫血。相比之下，10 名成人中有 5 名（50%）无症状，其余人则有无关症状。内镜下，儿科患者表现为十二指肠和多个结肠部位受累。然而，10 名成人中有 8 名（80%）表现为孤立性息肉，主要累及直肠（8 名中的 7 名，88%）。病变大小从 0.1 厘米至 0.8 厘米（平均 0.4 厘米），主要为黏膜内（24 例中的 18 例，75%），呈边缘性（24 例中的 14 例，58%）或浸润性（24 例中的 10 例，42%）生长模式。显微镜下的特征与其他部位的 LCH 相似，尽管有些病例的特征是突出的淋巴细胞（24 例中的 12 例，50%）而不是嗜酸性粒细胞和大核仁（24 例中的 2 例，8%）。还发现了反应性黏膜上方和被捕获的上皮变化（24 例中的 10 例，42%）、黏膜溃疡（24 例中的 3 例，13%）、局灶性坏死（24 例中的 1 例）和多核巨细胞（24 例中的 1 例）。未见有丝分裂象。免疫组织化学染色显示，所有病变均表达 S-100 蛋白和 CD1a。11 名（92%）患者的随访信息可用，时间从 2 个月至 5.3 年（平均 1.8 年）。1 名儿科患者失访。然而，另一名患者在初始诊断后 1 年发展为多系统疾病并死亡。2 名成年患者发生皮肤疾病，分别在初始诊断后 2 个月和 2 年，其中 1 名患者有多发性结肠疾病。基于这项研究，胃肠道 LCH 病变发生在儿童和成人中，女性居多。与之前的报道一致，儿科病例与全身性疾病和不良预后相关。然而，在成人中，LCH 通常以偶然的孤立性息肉形式出现。可能会发生罕见的全身性疾病，因此需要密切随访。
