Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Autor:	Wheeler SR; 1 Department of Pathology, Microbiology and Immunology, 2 Department of Bioinformatics, Vanderbilt University Medical Center, Nashville, TN 37211, USA., Shi C; 1 Department of Pathology, Microbiology and Immunology, 2 Department of Bioinformatics, Vanderbilt University Medical Center, Nashville, TN 37211, USA., Holt JA; 1 Department of Pathology, Microbiology and Immunology, 2 Department of Bioinformatics, Vanderbilt University Medical Center, Nashville, TN 37211, USA., Vnencak-Jones CL; 1 Department of Pathology, Microbiology and Immunology, 2 Department of Bioinformatics, Vanderbilt University Medical Center, Nashville, TN 37211, USA.
Jazyk:	angličtina
Zdroj:	Journal of gastrointestinal oncology [J Gastrointest Oncol] 2016 Jun; Vol. 7 (3), pp. E64-71.
DOI:	10.21037/jgo.2016.01.07
Abstrakt:	Patients with Lynch syndrome often present with multiple synchronous or metachronous colorectal cancers (CRCs). The presence of multiple CRCs with distinct genetic profiles and driver mutations could complicate treatment as each cancer may respond differently to therapy. Studies of sporadic CRCs suggested that synchronous tumors have distinct etiologies, but could not rule out differences in genetic background. The presence of multiple cancers in a patient with a predisposing mutation provides an opportunity to profile synchronous cancers in the same genetic background. Here, we describe the case of a patient with Lynch syndrome that presented with six synchronous CRCs. Microsatellite instability (MSI) and genomic profiling indicated that each lesion had a unique pattern of instability and a distinct profile of affected genes. These findings support the idea that in Lynch syndrome, synchronous CRCs can develop in parallel with distinct mutation profiles and that these differences may inform treatment decisions.
Databáze:	MEDLINE
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