School of Medicine, Griffith Health Institute, Gold Coast, QLD, Australia.
Int J Colorectal Dis. 2011 Feb;26(2):127-33. doi: 10.1007/s00384-010-1037-z. Epub 2010 Aug 5.
Colorectal signet-ring cell carcinoma (SRCC) is rare, and very little detailed information on the molecular biology of the disease is available.
The literature on the clinical, pathological and, in particular, the molecular biology of this rare entity was critically reviewed. The reviewed articles take into account a total of 1,817 cases of SRCC, but only 143 cases have molecular data available. The characteristics of two patients with colorectal SRCC were also discussed.
Colorectal SRCC mostly occurs in younger patients, is larger and has different site predilection compared with conventional colorectal adenocarcinoma. It can occur as one of the synchronous cancers in the colorectum. The cancer is usually diagnosed at advanced stages because of the late manifestation of symptoms, and aggressive treatment strategy is required. Limited reports in the literature have shown that the variant of colorectal cancer demonstrated a different pattern of genetic alterations of common growth kinase-related oncogenes (K-ras, BRAF), tumour suppressor genes (p53, p16), gene methylation and cell adhesion-related genes related to the Wingless signalling pathway (E-cadherin and beta-catenin) from conventional colorectal adenocarcinoma. Colorectal SRCC also showed high expression of mucin-related genes and genes related to the gastrointestinal system. There was also a higher prevalence of microsatellite instability-high tumours and low Cox-2 expression in colorectal SRCC as opposed to conventional adenocarcinoma.
Colorectal SRCC has unique molecular pathological features. The unique molecular profiles in SRCC may provide molecular-based improvements to patient management in colorectal SRCC.
结直肠印戒细胞癌(SRCC)较为罕见,关于该疾病的分子生物学的详细信息很少。
对该罕见实体的临床、病理,特别是分子生物学的文献进行了批判性回顾。综述文章共纳入了 1817 例 SRCC 病例,但仅有 143 例有分子数据。还讨论了两名结直肠 SRCC 患者的特征。
与常规结直肠腺癌相比,结直肠 SRCC 主要发生在年轻患者中,肿瘤更大,且具有不同的部位偏好。它可能是结直肠的同步癌之一。由于症状出现较晚,该癌症通常在晚期诊断,需要采取积极的治疗策略。文献中的有限报道表明,这种结直肠癌的变异型表现出与常见生长激酶相关致癌基因(K-ras、BRAF)、肿瘤抑制基因(p53、p16)、基因甲基化以及与无翅信号通路相关的细胞黏附基因不同的遗传改变(E-钙黏蛋白和β-连环蛋白),而这些改变在常规结直肠腺癌中并不常见。结直肠 SRCC 还表现出粘蛋白相关基因和与胃肠道系统相关基因的高表达。与常规腺癌相比,结直肠 SRCC 中还存在更高比例的微卫星不稳定高肿瘤和低 Cox-2 表达。
结直肠 SRCC 具有独特的分子病理特征。SRCC 中的独特分子谱可能为结直肠 SRCC 患者的管理提供基于分子的改进。