Recurrent Colonic Cancer with Renal Pelvic Urothelial CancerCase Report and Review of Literature

Dr. S. Mohan, Dr Abhishek Laddha, Dr Appu Thomas, Dr Ginil Kumar Pooleri
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Abstract

53 year old diabetic lady with bleeding per rectum in April 2008.She had past history of hysterectomy for uterine fibroids in 2004 and had family history of colon cancer in mother for which she underwent surgery and died of unrelated cause 20 years after surgery. She was evaluated was found to have colonic growth and underwent right hemicolectomy in April 2008, which was reported as poorly differentiated adenocarcinoma. This was followed by 8 cycles of chemotherapy with oxaliplatin, fluorouracil (5FU) and folinic acid (FOLFOX). In April 2016, she developed bleeding per rectum, and was found to have growth in colon. She underwent a subtotal colectomy with colorectal anastamosis, histopathology was reported as moderate to poorly differentiated adenocarcinoma. This was followed by 7 cycles of adjuvant chemotherapy with capecitabine. Immunohistochemical analysis was done in view of younger age of onset and recurrence of tumour. The study showed strong nuclear expression of MLH1, PMS2, MSH2 and MSH6 in the neoplastic cells. The immunoprofile was suggestive of intact DNA mismatch repair proteins/normal mismatch repair (MMR) function, consistent with microsatellite stable (MSS) phenotype. In February 2018, she presented with multiple episodes of painless hematuria with clots and hematochezia. She underwent MRI and colonoscopy for same. A colonoscopy and biopsy showed moderately differentiated adenocarcinoma in the rectum. A contrast MRI pelvis showed a soft tissue lesion in the right lateral wall of the upper rectum. It also showed a well defined lesion in the lower pole of the right kidney, extending into the renal pelvis. (Figure 1A & B). She underwent open subtotal colectomy with right radical nephroureterectomy. (Figure 2A&B). Histopathology showed well to moderately differentiated adenocarcinoma, single node metastasis, and discontinuous extramural deposits in mesorectal fat [UICC TNM pT3N1 (1/9), LVI] in colon and invasive high grade papillary urothelial carcinoma renal pelvis in nephroureterectomy specimen. [ pTNM: pT3 Nx Mx]. Abstract: The genetic association between colorectal cancer and renal pelvic urothelial cancer is well described as part of Lynch syndrome (Hereditary Non Polyposis Colorectal Cancer), an autosomal dominant genetic disorder characterized by defective DNA mismatch repair which leads to microsattelite instability. We are reporting a case with microsatellite stable phenotype and intact DNA mismatch repair proteins/normal mismatch repair function in a case of recurrent colonic cancer with renal pelvic urothelial cancer.
复发性结肠癌合并肾盆腔尿路上皮癌1例报告及文献复习
53岁糖尿病女性,2008年4月直肠出血。她曾于2004年因子宫肌瘤而接受子宫切除术,并因母亲有结肠癌家族史而接受手术,手术20年后因无关原因死亡。她被诊断为结肠生长,并于2008年4月行右半结肠切除术,报告为低分化腺癌。随后进行8个周期的奥沙利铂、氟尿嘧啶(5FU)和亚叶酸(FOLFOX)化疗。2016年4月,她出现了直肠出血,并被发现有结肠生长。她接受了结肠次全切除术并结直肠吻合,组织病理学报告为中度至低分化腺癌。随后用卡培他滨进行了7个周期的辅助化疗。针对肿瘤发病年龄小、复发的特点,进行免疫组化分析。研究发现肿瘤细胞中MLH1、PMS2、MSH2和MSH6的核表达较强。免疫图谱提示完整的DNA错配修复蛋白/正常错配修复(MMR)功能,与微卫星稳定(MSS)表型一致。2018年2月,患者出现多次无痛性血尿伴血栓和便血。她接受了核磁共振和结肠镜检查。结肠镜检查和活检显示直肠中分化腺癌。骨盆造影显示直肠上部右侧壁软组织病变。右肾下极可见一清晰病灶,并延伸至肾盂。(图1A和图B)。患者行开放式结肠次全切除术和右侧肾输尿管根治术。(图2中方式)。组织病理学检查显示:结肠中分化良好的腺癌,单淋巴结转移,不连续的直肠系膜外脂肪沉积[UICC TNM pT3N1 (1/9), LVI],肾输尿管切除术标本中浸润性高级别乳头状尿路上皮癌肾盂。[pTNM: pT3 Nx Mx]。结直肠癌与肾盆腔尿路上皮癌之间的遗传关联被很好地描述为Lynch综合征(遗传性非息肉性结直肠癌)的一部分,Lynch综合征是一种常染色体显性遗传疾病,其特征是DNA错配修复缺陷,导致微卫星不稳定。我们报告一例微卫星稳定表型和完整DNA错配修复蛋白/正常错配修复功能的复发性结肠癌伴肾盆腔尿路上皮癌病例。
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