A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient

Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and bio...

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Autores principales: Rehman, Obaid, Sackfield, Bradley, Thoguluva Chandrasekar, Viveksandeep, Oliver, Jorge, Aswath, Ganesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959066/
https://www.ncbi.nlm.nih.gov/pubmed/35371633
http://dx.doi.org/10.7759/cureus.22631
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author Rehman, Obaid
Sackfield, Bradley
Thoguluva Chandrasekar, Viveksandeep
Oliver, Jorge
Aswath, Ganesh
author_facet Rehman, Obaid
Sackfield, Bradley
Thoguluva Chandrasekar, Viveksandeep
Oliver, Jorge
Aswath, Ganesh
author_sort Rehman, Obaid
collection PubMed
description Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and biopsy showed intrahepatic adenocarcinoma. Germline testing was positive for two mutations: c.1100delC and c.1227_1228dupGG on the CHEK2 gene and the MUTYH gene, respectively. The patient was started on chemotherapy and tolerated it well. We aimed to demonstrate an association between CHEK2 and MUTYH mutations with CCA and highlight the importance of genetic testing for at-risk patients.
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spelling pubmed-89590662022-04-01 A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient Rehman, Obaid Sackfield, Bradley Thoguluva Chandrasekar, Viveksandeep Oliver, Jorge Aswath, Ganesh Cureus Genetics Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and biopsy showed intrahepatic adenocarcinoma. Germline testing was positive for two mutations: c.1100delC and c.1227_1228dupGG on the CHEK2 gene and the MUTYH gene, respectively. The patient was started on chemotherapy and tolerated it well. We aimed to demonstrate an association between CHEK2 and MUTYH mutations with CCA and highlight the importance of genetic testing for at-risk patients. Cureus 2022-02-26 /pmc/articles/PMC8959066/ /pubmed/35371633 http://dx.doi.org/10.7759/cureus.22631 Text en Copyright © 2022, Rehman et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Rehman, Obaid
Sackfield, Bradley
Thoguluva Chandrasekar, Viveksandeep
Oliver, Jorge
Aswath, Ganesh
A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
title A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
title_full A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
title_fullStr A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
title_full_unstemmed A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
title_short A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient
title_sort case report of chek2 and mutyh germline mutations associated with cholangiocarcinoma in a young patient
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959066/
https://www.ncbi.nlm.nih.gov/pubmed/35371633
http://dx.doi.org/10.7759/cureus.22631
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