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Malays J Pathol ; 44(2): 285-290, 2022 Aug.
Article in English | MEDLINE | ID: mdl-36043592

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/genetics
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