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Case Reports
. 2024 Apr;116(4):234-235.
doi: 10.17235/reed.2023.9724/2023.

Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?

César Gutiérrez Pérez  1 , Inmaculada Rodríguez Ledesma  2 , Carmen Blanco Abad  1 , Ana María López Muñoz  1 , Irene Chivato Martín-Falquina  3 , Mercedes Durán Domínguez  4 , Enrique Lastra Aras  1
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Free article
Case Reports

Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?

César Gutiérrez Pérez et al. Rev Esp Enferm Dig. 2024 Apr.
Free article

Abstract

We present the case of a 69-year-old male diagnosed with stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6 proteins, but somatic wild type MSH2 and MSH6 genes with Oncomine Comprehensive Assay (OCA) genomic sequencing panel. In his cancer family history, there was a maternal aunt with sigmoid colon adenocarcinoma also missing MSH2 and MSH6 protein expression. Subsequently, we will discuss whether or not we are facing a hereditary cancer syndrome.

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