Brcic Iva, Cathomas Gieri, Vanoli Alessandro, Jilek Kurt, Giuffrida Paolo, Langner Cord
Institute of Pathology, Medical University of Graz, Graz, Austria.
Institute of Pathology, Kantonsspital Baselland, Liestal, Switzerland.
Histopathology. 2016 Jul;69(1):136-40. doi: 10.1111/his.12908. Epub 2016 Jan 13.
Medullary carcinoma of the large bowel occurs mainly right-sided in elderly females. The tumour is almost invariably microsatellite instable and has been associated with favourable outcome. Our study aimed to present three cases of medullary carcinoma originating from the small bowel.
We describe three cases of small bowel medullary carcinoma. Two patients had coeliac disease, diagnosed at the ages of 79 and 71 years, respectively. The tumours showed the characteristic syncytial growth pattern with marked intratumoral lymphocytic inflammation. Loss of MutL homologue 1 (MLH1) [and postmeiotic segregation increased 2 (S. cerevisiae) PMS2] expression was observed in all cases, consistent with high-level microsatellite instability. All tumours were negative for Epstein-Barr virus. Follow-up information was available for one patient, who is recurrence-free 6 years after resection.
Medullary carcinoma of the small bowel is exceedingly rare. Our data and a review of the literature suggest that this tumour type is characteristic for coeliac disease and may be the histological type underlying small bowel cancers with high-level microsatellite instability in patients with coeliac disease.
大肠髓样癌主要发生于老年女性的右侧。该肿瘤几乎总是微卫星不稳定的，且与良好的预后相关。我们的研究旨在呈现三例起源于小肠的髓样癌病例。
我们描述了三例小肠髓样癌病例。两名患者分别在79岁和71岁时被诊断患有乳糜泻。肿瘤呈现出特征性的合体细胞生长模式，伴有明显的瘤内淋巴细胞炎症。在所有病例中均观察到错配修复蛋白MutL同源物1（MLH1）[和减数分裂后分离增加2（酿酒酵母）PMS2]表达缺失，这与高水平微卫星不稳定一致。所有肿瘤的爱泼斯坦-巴尔病毒检测均为阴性。有一名患者的随访信息，其在切除术后6年无复发。
小肠髓样癌极为罕见。我们的数据以及文献综述表明，这种肿瘤类型是乳糜泻的特征，并且可能是乳糜泻患者中具有高水平微卫星不稳定的小肠癌的组织学类型。
