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Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?
Gutiérrez Pérez, César; Rodríguez Ledesma, Inmaculada; Blanco Abad, Carmen; López Muñoz, Ana María; Chivato Martín-Falquina, Irene; Durán Domínguez, Mercedes; Lastra Aras, Enrique.
Affiliation
  • Gutiérrez Pérez, César; Hospital Universitario de Burgos (HUBU). Department of Medical Oncology. Burgos. Spain
  • Rodríguez Ledesma, Inmaculada; Hospital Universitario de Burgos (HUBU). Department of Medical Oncology. Burgos. Spain
  • Blanco Abad, Carmen; Hospital Universitario de Burgos (HUBU). Department of Medical Oncology. Burgos. Spain
  • López Muñoz, Ana María; Hospital Universitario de Burgos (HUBU). Department of Medical Oncology. Burgos. Spain
  • Chivato Martín-Falquina, Irene; Hospital Universitario de Burgos (HUBU). Department of Digestive Diseases. Burgos. Spain
  • Durán Domínguez, Mercedes; Universidad de Valladolid. Instituto de Biomedicina y Genética Molecular (IBGM). Valladolid. Spain
  • Lastra Aras, Enrique; Hospital Universitario de Burgos (HUBU). Department of Medical Oncology. Burgos. Spain
Rev. esp. enferm. dig ; 116(4): 234-235, 2024. graf
Article in English | IBECS | ID: ibc-232478
Responsible library: ES1.1
Localization: ES15.1 - BNCS
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. (AU)
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Collection: National databases / Spain Database: IBECS Main subject: Colorectal Neoplasms, Hereditary Nonpolyposis / Cholangiocarcinoma / Genomics Limits: Aged / Humans / Male Language: English Journal: Rev. esp. enferm. dig Year: 2024 Document type: Article Institution/Affiliation country: Hospital Universitario de Burgos (HUBU)/Spain / Universidad de Valladolid/Spain
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Collection: National databases / Spain Database: IBECS Main subject: Colorectal Neoplasms, Hereditary Nonpolyposis / Cholangiocarcinoma / Genomics Limits: Aged / Humans / Male Language: English Journal: Rev. esp. enferm. dig Year: 2024 Document type: Article Institution/Affiliation country: Hospital Universitario de Burgos (HUBU)/Spain / Universidad de Valladolid/Spain