Universiti Sains Malaysia, School of Medical Sciences, Department of Pathology, Health Campus, Kubang Kerian, Kelantan, Malaysia.
Universiti Sains Malaysia, School of Medical Sciences, Department of Surgery, Health Campus, Kubang Kerian, Kelantan, Malaysia.
Malays J Pathol. 2022 Aug;44(2):285-290.
Although young-onset colorectal cancer (CRC) is commonly linked to genetic predispositions such as Lynch syndrome, there has been an increasing trend in the prevalence of sporadic type youngonset CRC. We highlighted two cases of young patients diagnosed with CRC. Both patients came at the late stage of presentation with right sided colon tumour and local lymph nodes involvement. Loss of MLH1 expression with positive BRAF V600E was seen on immunohistochemistry staining. Additionally, they have no chronic disease or familial history of malignancy. The follow-up surveillance CT scan and the surveillance colonoscopy of case 1 showed no local recurrence and distant metastasis. However, another patient defaulted on the subsequent follow-up. In this report, we review the clinicopathological characteristics of these two cases and discuss the importance of the screening for the BRAF V600E and the four MMR proteins to characterise the sporadic and hereditary subgroups of young-onset CRC.
虽然早发性结直肠癌（CRC）通常与遗传易感性相关，如林奇综合征，但散发性早发性 CRC 的患病率呈上升趋势。我们强调了两例年轻患者被诊断为 CRC 的病例。两名患者均表现为右侧结肠癌和局部淋巴结受累，处于晚期。免疫组织化学染色显示 MLH1 表达缺失，BRAF V600E 阳性。此外，他们没有慢性疾病或恶性肿瘤家族史。病例 1 的随访 CT 扫描和结肠镜检查未显示局部复发和远处转移。然而，另一名患者未能进行后续随访。在本报告中，我们回顾了这两个病例的临床病理特征，并讨论了筛查 BRAF V600E 和四种 MMR 蛋白对表征散发性和遗传性早发性 CRC 亚组的重要性。
