结直肠癌(CRC)是全球最普遍的癌症类型之一。众所周知,CRC的发展主要是由癌基因的顺序激活和肿瘤抑制基因的同时失活引起的。还注意到,在最初的致癌突变之后,创建了许多具有不同突变谱的亚群,导致肿瘤之间的异质性。这项回顾性研究分析了喀拉拉邦中部三级转诊中心在18个月内通过结肠切除术诊断为CRC的100例患者。印度。病理记录和组织切片由两名病理学家审查,并从病理报告中收集临床病理资料。由于医院缺乏自动化平台,对发送到外部中心的肿瘤组织块进行了BRAF突变和可能的微卫星不稳定性(MSI)(通过错配修复(MMR)蛋白质研究)的免疫组织化学分析。该研究利用Roche的BenchmarkXT平台进行BRAF分析,并使用MLH1、MSH2、MSH6和PMS2的抗体评估MMR蛋白表达。患者平均年龄为58.36岁,男性占主导地位(58.0%)。大多数肿瘤被分类为T3(71.0%,n-71)和T2/T4a(各14.0%,n-14),而淋巴结受累包括N0(35.0%,n-35),N1(26.0%,n-26),N2(19.0%,n-19),和NX(20.0%,n-20)。组织学检查显示主要是高分化肿瘤(78.0%,n-78),41.0%(n-41)的病例有淋巴管浸润,5.0%(n-5)的病例有血管浸润。左侧肿瘤占优势(33.0%,n-33),其次是直肠癌(37.0%,n-37),和右侧结肠癌(30.0%,n-30)。遗传分析显示稀疏的BRAF突变(1.0%,n-1)和MSI(1.0%,n-1),通过免疫组织化学(IHC),一些病例表现出MMR蛋白(MLH1,PMS2,MSH2和MSH6)的丢失。该研究强调了该队列中BRAF突变的罕见性,并强调了观察到的各种病理和分子特征。讨论的重点是这些发现的含义,提示该人群中的CRC表现出独特的临床病理特征,可能受到遗传突变以外因素的影响.进一步的多中心研究是必要的,以全面探索这些因素和完善风险分层和治疗策略的CRC患者在相似的人口统计学。
Colorectal cancer (CRC) is among the most prevalent types of cancer globally. It is well established that the development of CRC primarily results from the sequential activation of oncogenes and the simultaneous inactivation of tumor suppressor genes. It has also been noted that after the initial oncogenic mutation, many subpopulations with different mutational profiles are created, causing heterogeneity among the tumors. This retrospective study analyzed 100 patients diagnosed with CRC through colectomy over an eighteen-month period at a tertiary referral center in mid-Kerala, India. Pathology records and histological slides were reviewed by two pathologists, and clinicopathological data were collected from pathology reports. Immunohistochemical analysis for BRAF mutation and possible microsatellite instability (MSI) (by mismatch repair (MMR) protein study) was conducted on tumor tissue blocks sent to an external center due to the lack of an automated platform at the hospital. The study utilized Roche\'s Benchmark XT platform for BRAF analysis and assessed MMR protein expression using antibodies for MLH1, MSH2, MSH6, and PMS2. The mean age of patients was 58.36 years, with a male predominance (58.0%). Most tumors were classified as T3 (71.0%, n-71) and T2/T4a (14.0% each, n-14), while nodal involvement included N0 (35.0%, n-35), N1 (26.0%, n-26), N2 (19.0%, n-19), and NX (20.0%, n-20). Histological examination revealed predominantly well-differentiated tumors (78.0%, n-78), with lymphatic invasion noted in 41.0% (n-41) and vascular invasion in 5.0% (n-5) of cases. Left-sided tumors predominated (33.0%, n-33), followed by rectal carcinoma (37.0%, n-37), and right-sided colon cancers (30.0%, n-30). Genetic profiling showed sparse BRAF mutations (1.0%, n-1) and MSI (1.0%, n-1), with some cases exhibiting loss of MMR proteins (MLH1, PMS2, MSH2, and MSH6) by immunohistochemistry (IHC). The study highlights the rarity of BRAF mutations in this cohort and emphasizes the diverse pathological and molecular characteristics observed. The discussion focuses on the implications of these findings, suggesting that CRC in this population exhibits unique clinicopathological features potentially influenced by factors beyond genetic mutations. Further multicentric studies are warranted to comprehensively explore these factors and refine risk stratification and treatment strategies for CRC patients in similar demographics.