Department of Anatomic and Molecular Pathology, College of Medicine, University of Lagos and Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Department of Anatomic and Molecular Pathology, Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Niger J Clin Pract. 2021 Sep;24(9):1294-1299. doi: 10.4103/njcp.njcp_104_21.
Colorectal carcinoma (CRC) is a major cause of morbidity and mortality worldwide. Microsatellite instability pathway is important in the pathogenesis of CRC. Immunohistochemistry expression of mismatch repair (MMR) proteins serves as surrogate marker for MMR gene mutation.
This study aimed to determine MSI status of a cohort of CRC cases using immunohistochemistry.
Surgical pathology blocks of resected colonic carcinoma (CC) between 2011 and 2015 were extracted from our departmental archives and The Specialist Laboratories in Lagos. Immunohistochemical expression profile of 4 MMR proteins was assessed in the representative blocks and this was correlated with the demographic and pathological characteristics.
There were 19 males and 16 females with CC, mean age of 51.6 years, and 40% of them were below 50 years of age. Twenty (57.1%) out of the 35 CC cases seen were mismatch repair proficient (pMMR) while the remaining 15 (42.9%) were mismatch repair deficient (dMMR). Seven dMMR cases were seen equally on the right and left colonic tumors respectively. Five (71.4%) out of the 7 mucinous tumors in this study were dMMR, right sided with 3 of them in patients who were below 50 years of age.
The frequency of mismatch repair deficiency in CC among Nigerians is high, and presence of right-sided mucinous colon cancer in patients below 50 years is highly suggestive of dMMR status. Mutation studies of larger patient samples to determine the percentage with germline mutation will further our knowledge, and influence therapeutic options for CC.
结直肠癌(CRC)是全球发病率和死亡率的主要原因。微卫星不稳定性途径在 CRC 的发病机制中很重要。错配修复(MMR)蛋白的免疫组织化学表达可作为 MMR 基因突变的替代标志物。
本研究旨在使用免疫组织化学方法确定 CRC 病例的 MSI 状态。
从我们的部门档案和拉各斯专家实验室提取了 2011 年至 2015 年间切除的结肠腺癌(CC)的外科病理学块。在代表性块中评估了 4 种 MMR 蛋白的免疫组织化学表达谱,并将其与人口统计学和病理学特征相关联。
共有 19 名男性和 16 名女性患有 CC,平均年龄为 51.6 岁,其中 40%的年龄在 50 岁以下。在 35 例 CC 病例中,有 20 例(57.1%)为错配修复功能正常(pMMR),其余 15 例(42.9%)为错配修复缺陷(dMMR)。在右结肠肿瘤中各有 7 例 dMMR。在本研究的 7 例黏液性肿瘤中,有 5 例(71.4%)为 dMMR,其中 3 例发生在 50 岁以下的患者中。
在尼日利亚人中,CC 中错配修复缺陷的频率较高,50 岁以下右半结肠黏液性结肠癌的存在高度提示 dMMR 状态。对更大患者样本进行突变研究以确定胚系突变的百分比将进一步提高我们的认识,并影响 CC 的治疗选择。