Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, United States; Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China.
Pathfinder Labs LLC, Los Angeles, CA 90064, United States.
Ann Diagn Pathol. 2020 Aug;47:151531. doi: 10.1016/j.anndiagpath.2020.151531. Epub 2020 Apr 28.
Mucosal Schwann cell hamartoma (MSCH) is an uncommon neural lesion characterized by an ill-defined proliferation of S100-positive Schwann cells in the lamina propria, with reported cases exclusively occurring in the colorectum. Here we describe the first series of MSCHs arising in the gastroesophageal junction (GEJ) and discuss their clinicopathologic features in comparison with their colorectal counterparts. We searched the UCLA pathology database from 01/2014 to 12/2018 to identify cases carrying the diagnosis of MSCH. A total of 48 cases (45 in-house, 3 consults) of colorectal MSCHs and 6 cases (1 in-house, 5 consults) of GEJ MSCHs were identified. For GEJ MSCHs, there were 4 males and 2 females with an average age of 70.2 years (range: 57-76 years). Clinical indications for endoscopy included history of gastroesophageal reflux disease (n = 2), heartburn (n = 2), dysphagia (n = 1), and iron deficiency anemia (n = 1). Endoscopic findings at the GEJ were available for 5 patients including irregular Z-line (n = 3), mild nodular carditis (n = 1), and normal (n = 1). None of them showed a polyp or nodule. The mean size of the lesion was 2.8 mm (range: 2-4 mm) microscopically. None of the colorectal or GEJ MSCH cases had an association with inherited syndromes. In conclusion, MSCH of the gastrointestinal tract is predominantly seen in the colorectum, but also infrequently seen in the GEJ. GEJ MSCH shares histologic and immunohistochemical features with its colorectal counterpart, but is usually an incidental finding with no endoscopically visible lesion. As there is no syndromic association with MSCH, additional treatment, work-up and follow-up are unnecessary.
黏膜下施万细胞瘤（MSCH）是一种罕见的神经病变，其特征为固有层中 S100 阳性施万细胞的界限不清的增殖，据报道，这种病例仅发生在结直肠。在这里，我们描述了首例发生在胃食管交界处（GEJ）的 MSCH，并比较了它们与结直肠对应物的临床病理特征。我们从 2014 年 1 月至 2018 年 12 月在 UCLA 病理数据库中搜索了携带 MSCH 诊断的病例。共确定了 48 例（45 例院内，3 例会诊）结直肠 MSCH 和 6 例（1 例院内，5 例会诊）GEJ MSCH。对于 GEJ MSCH，有 4 名男性和 2 名女性，平均年龄为 70.2 岁（范围：57-76 岁）。内镜检查的临床指征包括胃食管反流病病史（n=2）、烧心（n=2）、吞咽困难（n=1）和缺铁性贫血（n=1）。有 5 名患者的 GEJ 内镜检查结果包括不规则 Z 线（n=3）、轻度结节性心炎（n=1）和正常（n=1）。他们中没有一个人表现出息肉或结节。病变的平均大小为 2.8mm（范围：2-4mm）。结直肠或 GEJ MSCH 病例均与遗传性综合征无关。总之，胃肠道的 MSCH 主要见于结直肠，但也罕见见于 GEJ。GEJ MSCH 具有与结直肠对应物相同的组织学和免疫组织化学特征，但通常是偶然发现，无内镜下可见病变。由于 MSCH 与综合征无关，因此无需额外的治疗、检查和随访。
