Prenzel K L, Schäfer E, Stippel D, Beckurts K T E, Hölscher A H
Department of Visceral and Vascular Surgery, University of Cologne, Cologne, Germany.
Dis Esophagus. 2006;19(6):504-8. doi: 10.1111/j.1442-2050.2006.00612.x.
Leiomyomas are rare esophageal disorders, although among the benign esophageal neoplasms, they are the most common. Multiple leiomyomas are distinguished from esophageal leiomyomatosis, an extremely rare condition, which is associated with Alport syndrome, showing deletions and rearrangements of the COL4A5/COL4A6 gene. There are only a few reports of diffuse multilocular lesions. A 19-year-old man presented with upper gastrointestinal bleeding and diffuse abdominal pain. On endoscopy multiple nodules covered with intact mucosa were present, the largest tumor arising from the gastro-esophageal border infiltrating the cardia. Barium swallow demonstrated narrowing of the middle and lower esophagus with the upper third of the stomach filled by the tumor. Thorax and abdominal CT scans revealed infiltration of almost the total aboral esophagus by the tumor with compression of left and right bronchi. The infiltration reached the whole lesser curvature of the stomach. Endosonography showed multiple encapsulated nodules. Due to the extended tumor growth with infiltration of the upper third of the stomach, a total esophago-gastrectomy with reconstruction by colon interposition was performed. On histopathological examination multiple esophageal leiomyomas with infiltration of the proximal third of the stomach was shown. Immunohistochemically the tumor stained positive for desmin and sm-actin and negative for CD34 and c-kit. Genetic analysis ruled out a deletion of the COL4A5/COL4A6 locus on chromosome X that is linked with Alport syndrome-diffuse leiomyomatosis. Extended mutations in the COL4A5 gene, associated with Alport syndrome, to the COL4A6 gene, are required for the development of leiomyomatosis. In young patients with diffuse multinodular infiltration by encapsulated tumors, esophageal leiomyomatosis should be considered. If the proximal third of the stomach is infiltrated by the tumor an extended resection is necessary. Reconstruction procedures include colon interposition.
平滑肌瘤是罕见的食管疾病，不过在良性食管肿瘤中，它们是最常见的。多发性平滑肌瘤与食管平滑肌瘤病相鉴别，后者极为罕见，与奥尔波特综合征相关，表现为COL4A5/COL4A6基因的缺失和重排。仅有少数关于弥漫性多房性病变的报道。一名19岁男性出现上消化道出血和弥漫性腹痛。内镜检查发现有多个覆盖完整黏膜的结节，最大的肿瘤起源于胃食管交界处并浸润贲门。钡餐检查显示食管中下段狭窄，胃的上三分之一被肿瘤占据。胸部和腹部CT扫描显示肿瘤几乎浸润了整个食管下段，并压迫左右支气管。浸润范围达胃的整个小弯侧。超声内镜显示多个包膜下结节。由于肿瘤生长范围广且浸润至胃的上三分之一，遂行全食管胃切除术并采用结肠间置术进行重建。组织病理学检查显示为多发性食管平滑肌瘤并浸润至胃的近端三分之一。免疫组化结果显示肿瘤结蛋白和肌动蛋白染色阳性，CD34和c-kit染色阴性。基因分析排除了与奥尔波特综合征 - 弥漫性平滑肌瘤病相关的X染色体上COL4A5/COL4A6位点的缺失。与奥尔波特综合征相关的COL4A5基因的扩展突变至COL4A6基因，是平滑肌瘤病发生所必需的。对于年轻患者出现包膜下肿瘤弥漫性多结节浸润时，应考虑食管平滑肌瘤病。如果肿瘤浸润至胃的近端三分之一，则需要进行扩大切除。重建手术包括结肠间置术。
