ABSTRACT
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.
Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis , Colorectal Neoplasms , Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , DNA Mismatch Repair , Genetic Predisposition to Disease , Humans , Immunohistochemistry , Middle Aged , MutL Protein Homolog 1/genetics , Proto-Oncogene Proteins B-raf/geneticsABSTRACT
INTRODUCTION: Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1) is an important component of the IGF system that regulates insulin resistance-related to tumour development. The aim of this study is to investigate the expression of IGFBP-rP1 among female cancer patients who are known or not known to have Type 2 Diabetes Mellitus (T2DM). MATERIALS AND METHODS: Using a cross-sectional design, cases of ovarian and breast cancer with clinical status of T2DM were selected over a 10-year period in Hospital Universiti Sains Malaysia. Immunohistochemical staining for IGFBP-rP1 was performed on paraffin-embedded tissues and the results were correlated with the patient's demographic and clinicopathological data. RESULTS: A total of 152 breast cancer patients were recruited into the current study with 33.5% (51/152) patients were positive T2DM. Most of the breast cancer patients with T2DM were IGFBP-rP1-negative (66.7%, 34/51). The IGFBP-rP1 expression was significantly difference between breast cancer subjects with and without T2DM (p<0.001). There was no significant association of IGFBP-rP1 expression with data on the demographic and clinicopathological profiles of patients with breast cancer. Meanwhile, positive IGFBP-rP1 expression was evident in 44 out of 108 (40.74%) ovarian cancer cases. Among these cases, 36 were T2DM. In contrast to breast cancer cases, IGFBP-rP1 was mostly expressed among ovarian cancer patients with T2DM (66.7%, 24/36, p < 0.001). However, the -positive expression was not significantly associated with any sociodemographic and clinicopathological features of ovarian cancers. CONCLUSIONS: Majority of breast cancer patients with T2DM did not express IGFBP-rP1. In contrast, majority of the ovarian cancer patients with T2DM expressed IGFBP-rP1.
