ORIGINAL ARTICLE
Concordance of KRAS mutation status between luminal and peripheral regions of primary colorectal cancer. A laser-capture microdissection-based study
 
More details
Hide details
 
Submission date: 2015-12-31
 
 
Acceptance date: 2016-01-22
 
 
Publication date: 2016-05-10
 
 
Pol J Pathol 2016;67(1):13-18
 
KEYWORDS
TOPICS
ABSTRACT
The presence of KRAS mutation in colorectal cancer (CRC) is a marker of resistance to anti-EGFR therapy. However, there are conflicting reports concerning intratumoral heterogeneity of KRAS mutations. The aim of this study was to determine whether within primary CRCs with KRAS mutations intratumoral KRAS mutation heterogeneity can be detected between two strictly defined areas, i.e. the luminal (mucosa/submucosa) and peripheral invasive front of the tumor. Using laser-capture microdissection, from every tumor about 400-500 nests of cancer cells were excised from each of the examined areas (luminal and peripheral) and PNAClamp, a high-sensitivity real-time PCR-based diagnostic assay for KRAS mutation testing, was used for molecular analysis. KRAS mutations were detected in codon 12 in both luminal and peripheral regions in all tumors examined. We conclude that from the point of view of practical KRAS mutation testing for predictive purposes in patients with CRC (i.e. testing mutations in codons 12 and 13) sampling errors are unlikely to occur if in CRCs with KRAS mutations only the luminal (as in biopsy tissue) or peripheral region is examined, provided a sensitive system of detection is applied and an appropriate number of tumor cells with minimal contamination by benign cells is analyzed.
REFERENCES (25)
1.
Peeters M, Kafatos G, Taylor A, et al. Prevalence of RAS mutations and individual variation patterns among patients with metastatic colorectal cancer: A pooled analysis of randomised controlled trials. Eur J Cancer 2015; 51: 1704-1713.
 
2.
Smith G, Bounds R, Wolf H, et al. Activating K-Ras mutations outwith ‘hotspot’ codons in sporadic colorectal tumours – implications for personalised cancer medicine. Br J Cancer 2010; 102: 693-703.
 
3.
Domagala P, Hybiak J, Sulzyc-Bielicka V, et al. KRAS mutation testing in colorectal cancer as an example of the pathologist’s role in personalized targeted therapy: A practical approach. Pol J Pathol 2012; 63: 145-164.
 
4.
Linardou H, Dahabreh IJ, Kanaloupiti D, et al. Assessment of somatic k-RAS mutations as a mechanism associated with resistance to EGFR-targeted agents: a systematic review and meta-analysis of studies in advanced non-small-cell lung cancer and metastatic colorectal cancer. Lancet Oncol 2008; 9: 962-972.
 
5.
Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990; 61: 759-767.
 
6.
Farber L, Efrati E, Elkin H, et al. Molecular morphometric analysis shows relative intra-tumoural homogeneity for KRAS mutations in colorectal cancer. Virchows Archiv 2011; 459: 487-493.
 
7.
Shibata D, Schaeffer J, Li ZH, et al. Genetic-heterogeneity of the c-k-ras locus in colorectal adenomas but not in adenocarcinomas. J Nat Cancer Inst 1993; 85: 1058-1063.
 
8.
Dix BR, Robbins PD, Spagnolo DV, et al. Clonal analysis of colorectal tumors using k-ras and p53 gene-mutations as markers. Diagn Molec Pathol 1995; 4: 261-265.
 
9.
Ishii M, Sugai T, Habano W, Nakamura S. Analysis of Ki-ras gene mutations within the same tumor using a single tumor crypt in colorectal carcinomas. J Gastroenterol 2004; 39: 544-549.
 
10.
Losi L, Baisse B, Bouzourene H, Benhattar J. Evolution of intratumoral genetic heterogeneity during colorectal cancer progression. Carcinogenesis 2005; 26: 916-922.
 
11.
Giaretti W, Monaco R, Pujic N, et al. Intratumor heterogeneity of K-ras2 mutations in colorectal adenocarcinomas. Am J Pathol 1996; 149: 237-245.
 
12.
Fukunari H, Iwama T, Sugihara K, Miyaki M. Intratumoral heterogeneity of genetic changes in primary colorectal carcinomas with metastasis. Surg Today 2003; 33: 408-413.
 
13.
Al-Mulla F, Going JJ, Sowden E, et al. Heterogeneity of mutant versus wild-type Ki-ras in primary and metastatic colorectal carcinomas, and association of codon-12 valine with early mortality. J Pathol 1998; 185: 130-138.
 
14.
Baldus SE, Schaefer K-L, Engers R, et al. Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastases. Clin Cancer Res 2010; 16: 790-799.
 
15.
Nagai Y, Miyazawa H, Huqun, et al. Genetic heterogeneity of the epidermal growth factor receptor in non-small cell lung cancer cell lines revealed by a rapid and sensitive detection system, the peptide nucleic acid-locked nucleic acid PCR clamp. Cancer Res 2005; 65: 7276-7282.
 
16.
Jeong D, Jeong Y, Lee J, et al. Rapid and sensitive detection of KRAS mutation by peptide nucleic acid-based real-time PCR clamping: A Comparison with direct sequencing between fresh tissue and formalin-fixed and paraffin embedded tissue of colorectal cancer. Kor J Pathol 2011; 45: 151-159.
 
17.
Bösmüller H, Kranewitter W, Webersinke G, et al. Morphological and molecular heterogeneity in colorectal neoplasms with K-RAS mutation. A report of two cases. Pathol Res Pract 2011; 207: 399-402.
 
18.
Buob D, Fauvel H, Buisine MP, et al. The complex intratumoral heterogeneity of colon cancer highlighted by laser microdissection. Dig Dis Sci 2012; 57: 1271-1280.
 
19.
Knijn N, Mekenkamp LJM, Klomp M, et al. KRAS mutation analysis: a comparison between primary tumours and matched liver metastases in 305 colorectal cancer patients. Br J Cancer 2011; 104: 1020-1026.
 
20.
Cejas P, López-Gómez M, Aguayo C, et al. KRAS mutations in primary colorectal cancer tumors and related metastases: A potential role in prediction of lung metastasis. PLoS ONE 2009; 4: e8199, doi: 10.1371/journal.pone.0008199.
 
21.
Oltedal S, Aasprong OG, Moller JH, et al. Heterogeneous distribution of K-ras mutations in primary colon carcinomas: implications for EGFR-directed therapy. Int J Colorectal Dis 2011; 26: 1271-1277.
 
22.
Baisse B, Bouzourene H, Saraga EP, et al. Intratumor genetic heterogeneity in advanced human colorectal adenocarcinoma. Int J Cancer 2001; 93: 346-352.
 
23.
Bando H, Yoshino T, Tsuchihara K, et al. KRAS mutations detected by the amplification refractory mutation system-Scorpion assays strongly correlate with therapeutic effect of cetuximab. Br J Cancer 2011; 105: 403-406.
 
24.
Malapelle U, Carlomagno C, Salatiello M, et al. KRAS mutation detection by high-resolution melting analysis significantly predicts clinical benefit of cetuximab in metastatic colorectal cancer. Br J Cancer 2012; 107: 626-631.
 
25.
Alsdorf WH, Clauditz TS, Hoenig T, et al. Intratumoral heterogeneity of KRAS mutation is rare in non-small-cell lung cancer. Exper Molec Pathol 2013; 94: 155-159.
 
eISSN:2084-9869
ISSN:1233-9687
Journals System - logo
Scroll to top