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Open AccessCase Report

Quadruplicate Synchronous Adenocarcinoma of the Colon with Distant Metastases—Long-Term Molecular Follow-Up by KRAS and TP53 Mutational Profiling

1
Department of Pathology, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary
2
Department of Oncology, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary
3
Department of Surgery, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(6), 407; https://doi.org/10.3390/diagnostics10060407
Received: 29 April 2020 / Revised: 5 June 2020 / Accepted: 12 June 2020 / Published: 16 June 2020
(This article belongs to the Section Pathology and Molecular Diagnostics)
Anatomically independent tumor foci represent biologically distinct neoplasias, potentially featured by different progressivity and treatment responsiveness. To demonstrate the biological complexity, a metastatic colon adenocarcinoma patient originally presenting with four independent primary tumors of the right colon half and altogether eight distant metastases was followed by molecular testing. Next-generation sequencing results highlighted the mutational profile of the individual primaries and the dynamics of the different gene variants observed during follow-up. The four primary colon tumors presented with four different KRAS genotypes, one of them with a wild-type and three with pathogenic variants, without overlap. These were the following: c.35G > A; p.Gly12Asp with 40.6% variant allele frequency (VAF); c.34G > T; p.Gly12Cys with 16.2% VAF and c.35G > T; p.Gly12Val with 15.1% VAF. In metastatic tumors, with one exception where no mutation was detected, only the KRAS c.34G > T; p.Gly12Cys mutation could be detected. TP53 gene variants were variable in the primary tumors, with a single dominant variant evolving in the follow-up metastases (c.820G > T; p.Val274Phe). Genetic profiling of individually developing synchronous malignancies uncovers the clonal relations of metastatic tumors. NGS gene panels provide a solution to follow the dynamics of key oncogene variants during the course of the disease and greatly contribute to therapy optimization. View Full-Text
Keywords: colorectal cancer; metastasis; genetic alterations; KRAS; next-generation sequencing colorectal cancer; metastasis; genetic alterations; KRAS; next-generation sequencing
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Bádon, E.S.; Mokánszki, A.; Mónus, A.; András, C.; Damjanovich, L.; Méhes, G. Quadruplicate Synchronous Adenocarcinoma of the Colon with Distant Metastases—Long-Term Molecular Follow-Up by KRAS and TP53 Mutational Profiling. Diagnostics 2020, 10, 407.

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