Samalavicius Narimantas Evaldas, Stulpinas Rokas, Gasilionis Valdas, Baltruskeviciene Edita, Aleknavicius Eduardas, Mickys Ugnius
Institute of Oncology, Vilnius University, Vilnius, Lithuania.
National Center of Pathology, Affiliate of Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.
Ann Coloproctol. 2013 Dec;29(6):252-5. doi: 10.3393/ac.2013.29.6.252. Epub 2013 Dec 31.
Rhabdoid colonic tumors are very rare lesions with just a few publications describing such neoplasms. Even more unusual for these lesions are their primary rectal locations, with only two brief case reports having been published on that subject to date. We present a case of a composite rhabdoid rectal carcinoma in a 49-year-old male. The tumor behaved very aggressively, with rapid patient demise despite radical surgery and intensive postoperative chemotherapy (FOLFIRI [folinic acid {leucovorin}, fluorouracil {5-fluorouracil}, and irinotecan] and FOLFOX4 [folinic acid {leucovorin}, fluorouraci {5-fluorouracil}, and oxaliplatin]). Pathologic examination was supportive of a rhabdoid carcinoma, with a compatible immunohistochemical profile, demonstrating synchronous expression of vimentin and epithelial markers in the tumor cells. In addition, BRAF V600E gene mutation, together with a wild-type KRAS gene, was identified, and no evidence of microsatellite instability based on MLH1, MSH2, MSH6, and PMS2 immunophenotypes, i.e., no loss of expression for all 4 markers, was observed. Our reported case confirms previously published observations of the clinical aggressiveness and the poor therapeutic response for rhabdoid tumors.
横纹肌样结肠肿瘤是非常罕见的病变，仅有少数文献描述过此类肿瘤。而这些病变更不寻常的是其原发于直肠，迄今为止仅有两篇简短的病例报告发表过相关内容。我们报告一例49岁男性的复合型横纹肌样直肠癌病例。该肿瘤侵袭性很强，尽管进行了根治性手术及强化术后化疗（FOLFIRI方案[亚叶酸钙（甲酰四氢叶酸）、氟尿嘧啶（5-氟尿嘧啶）和伊立替康]和FOLFOX4方案[亚叶酸钙（甲酰四氢叶酸）、氟尿嘧啶（5-氟尿嘧啶）和奥沙利铂]），患者仍很快死亡。病理检查支持横纹肌样癌的诊断，免疫组化结果与之相符，显示肿瘤细胞中波形蛋白和上皮标志物同步表达。此外，检测到BRAF V600E基因突变以及野生型KRAS基因，基于MLH1、MSH2、MSH6和PMS2免疫表型未发现微卫星不稳定的证据，即未观察到所有4种标志物表达缺失。我们报道的病例证实了先前发表的关于横纹肌样肿瘤临床侵袭性及治疗反应差的观察结果。
