EGFR signalling pathway mutations in colorectal cancer: experience from a new laboratory

Abdul Halim, Sarah and A.Talib, Norlelawati and Ahmad Affandi, Khairunisa and Ismail, Irnani (2023) EGFR signalling pathway mutations in colorectal cancer: experience from a new laboratory. Malaysian Journal of Pathology, 45 (3). p. 525. ISSN 0126-8635

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Abstract

Introduction: The evaluation of epidermal growth factor receptor (EGFR) signalling pathway gene mutations such as NRAS, KRAS, BRAF V600E, PIK3CA and AKT1 is decisive in the era of targeted therapy for in colorectal cancer. The aim of this study is to determine the prevalence of these mutations and to categorise the mutation profiles in our local patient cohort. Method: Thirty-three formalin fixed paraffin embedded specimens of histologically confirmed colorectal adenocarcinoma between 2022 and 2023 were selected for DNA extraction using convenience sampling, irrespective of the stage of cancer. The extracted DNA were then subjected to real time PCR amplification using Entrogen Colorectal Cancer Mutation Detection Panel kit. The clinicopathologic parameters of the samples were retrieved from the medical records. Result: In our study population, the median age of presentation at diagnosis is 61 years old, with a male preponderance, (male: female ratio of 1.54:1). Out of the 33 samples, the prevalence of NRAS, KRAS and PIK3CA mutations wer 57% (19), 79% (26) and 48% (16) respectively. Only one patient harboured the BRAF V600E mutation whilst 3 patients had the AKT1 E17K mutations. For NRAS mutations, the most common mutation is on exon 4 (codon 146) (79%) whilst for KRAS mutations, multiple mutations involving exon 2 (codon 12) are prominent. In PIK3CA, the mutation involving Exon 9 (Codon 542/545 is) most common. All mucinous adenocarcinoma in our sample had KRAS exon 2 mutation. Discussion: The individual prevalence of the mutations is comparable to the prevalence reported in literature. As the presence of RAS oncogene is significantly associated with unresponsiveness towards EGFR monoclonal antibodies (eg Cetuximab), the prognostic significance of each individual mutations could be established in future prospective studies.

Item Type:	Article (other)
Subjects:	R Medicine > RB Pathology
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine Kulliyyah of Medicine > Department of Internal Medicine Kulliyyah of Medicine > Department of Pathology & Lab Medicine
Depositing User:	Dr SARAH ABDUL HALIM
Date Deposited:	19 Feb 2024 14:37
Last Modified:	19 Feb 2024 14:50
URI:	http://irep.iium.edu.my/id/eprint/110147

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