Evaluation of the correlation between KRAS mutated allele frequency and pathologist tumorous nuclei percentage assessment in colorectal cancer suggests a role for zygosity status
| العنوان: | Evaluation of the correlation between KRAS mutated allele frequency and pathologist tumorous nuclei percentage assessment in colorectal cancer suggests a role for zygosity status |
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| المؤلفون: | Anne Jouret-Mourin, Anne-France Dekairelle, Pamela Baldin, Louis Libbrecht |
| المساهمون: | UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL |
| المصدر: | Journal of Clinical Pathology, Vol. 71, no. 8, p. 743-744 (2018) |
| بيانات النشر: | BMJ, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, Tumour heterogeneity, Colorectal cancer, Biopsy, DNA Mutational Analysis, medicine.disease_cause, Pathology and Forensic Medicine, Proto-Oncogene Proteins p21(ras), Correlation, Genetic Heterogeneity, 03 medical and health sciences, 0302 clinical medicine, Mutation Rate, Predictive Value of Tests, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, Allele frequency, Cell Nucleus, Molecular pathology, business.industry, High-Throughput Nucleotide Sequencing, Reproducibility of Results, General Medicine, medicine.disease, Quality assurance, digestive system diseases, Zygosity, Pathologists, Phenotype, 030104 developmental biology, Homogeneous, 030220 oncology & carcinogenesis, Mutation, Clinical Competence, KRAS, Colorectal Neoplasms, business |
| الوصف: | Evaluation of molecular tumour heterogeneity relies on the tumorous nuclei percentage (TNP) assessment by a pathologist, which has been criticised for being inaccurate and suffering from interobserver variability. Based on the 'Big Bang theory' which states that KRAS mutation in colorectal cancer is mostly homogeneous, we investigated this issue by performing a critical analysis of the correlation of the KRAS mutant allele fraction with the TNP in 99 colorectal tumour samples with a positive KRAS mutation status as determined by next-generation sequencing. Our results yield indirect evidence that the KRAS zygosity status influences the correlation between these parameters and we show that a well-trained pathologist is indeed capable of accurately assessing TNP. Our findings indicate that tumour zygosity, a feature which has largely been neglected until now, should be taken into account in future studies on (colorectal) molecular tumour heterogeneity. ispartof: JOURNAL OF CLINICAL PATHOLOGY vol:71 issue:8 pages:743-744 ispartof: location:England status: published |
| وصف الملف: | Print-Electronic |
| تدمد: | 1472-4146 0021-9746 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8503ff420675b0a527acc93a66979cd2Test https://doi.org/10.1136/jclinpath-2018-205085Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8503ff420675b0a527acc93a66979cd2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14724146 00219746 |
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