Year 2024 / Volume 116 / Number 4
Letter
Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?

234-235

DOI: 10.17235/reed.2023.9724/2023

César Gutiérrez Pérez, Inmaculada Rodríguez Ledesma, Carmen Blanco Abad, Ana María López Muñoz, Irene Chivato Martín-Falquina, Mercedes Durán Domínguez, Enrique Lastra Aras,

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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References
1. Morak M, Heidenreich B, Keller G, et al. Biallelic MUTYH mutations can mimic Lynch syndrome. Eur J Hum Genet 2014; 22(11): 1334-37
2. Castillejo A, Vargas G, Castillejo MI, et al. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. Eur J Cancer 2014; 50(13): 2241-50
3. Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA, et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology 2014; 146(3): 643-646.e8
4. Terraf P, Pareja F, Brown DN, et al. Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing. Ann Oncol 2022; 33(4): 426-33
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Gutiérrez Pérez C, Rodríguez Ledesma I, Blanco Abad C, López Muñoz A, Chivato Martín-Falquina I, Durán Domínguez M, et all. Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?. 9724/2023


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Publication history

Received: 15/05/2023

Accepted: 18/05/2023

Online First: 14/06/2023

Published: 09/04/2024

Article Online First time: 30 days

Article editing time: 330 days


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