Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report

INTRODUCTION: We present a case of a male patient with neurofibromatosis type 1 diagnosed with pancreatic divisum and several gastrointestinal tumors. A 55-year-old man was admitted to the hospital with recurrent chronic pancreatitis, indicating a large mass in the ampulla. In addition, genetic test...

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Autores principales: Li, Bin-bin, Zheng, Hui, Lou, Yi-Dan, Zhang, Wen-Wei, Zheng, Song
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10540396/
https://www.ncbi.nlm.nih.gov/pubmed/37773168
http://dx.doi.org/10.1186/s13053-023-00262-4
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author Li, Bin-bin
Zheng, Hui
Lou, Yi-Dan
Zhang, Wen-Wei
Zheng, Song
author_facet Li, Bin-bin
Zheng, Hui
Lou, Yi-Dan
Zhang, Wen-Wei
Zheng, Song
author_sort Li, Bin-bin
collection PubMed
description INTRODUCTION: We present a case of a male patient with neurofibromatosis type 1 diagnosed with pancreatic divisum and several gastrointestinal tumors. A 55-year-old man was admitted to the hospital with recurrent chronic pancreatitis, indicating a large mass in the ampulla. In addition, genetic testing revealed two unique germline mutations in the neurofibromin (NF1) gene, and their potential interaction in promoting cancer was further investigated. CONCLUSION: The first similar case was reported in 2020. The current case was distinct from other cases since an additional two NF1 mutations were found in the patient. In conjunction with prior case reports, our findings imply that genetic testing in patients diagnosed with neurofibromatosis type 1 could be helpful in the development of effective treatments.
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spelling pubmed-105403962023-09-30 Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report Li, Bin-bin Zheng, Hui Lou, Yi-Dan Zhang, Wen-Wei Zheng, Song Hered Cancer Clin Pract Case Report INTRODUCTION: We present a case of a male patient with neurofibromatosis type 1 diagnosed with pancreatic divisum and several gastrointestinal tumors. A 55-year-old man was admitted to the hospital with recurrent chronic pancreatitis, indicating a large mass in the ampulla. In addition, genetic testing revealed two unique germline mutations in the neurofibromin (NF1) gene, and their potential interaction in promoting cancer was further investigated. CONCLUSION: The first similar case was reported in 2020. The current case was distinct from other cases since an additional two NF1 mutations were found in the patient. In conjunction with prior case reports, our findings imply that genetic testing in patients diagnosed with neurofibromatosis type 1 could be helpful in the development of effective treatments. BioMed Central 2023-09-29 /pmc/articles/PMC10540396/ /pubmed/37773168 http://dx.doi.org/10.1186/s13053-023-00262-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Li, Bin-bin
Zheng, Hui
Lou, Yi-Dan
Zhang, Wen-Wei
Zheng, Song
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
title Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
title_full Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
title_fullStr Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
title_full_unstemmed Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
title_short Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
title_sort periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10540396/
https://www.ncbi.nlm.nih.gov/pubmed/37773168
http://dx.doi.org/10.1186/s13053-023-00262-4
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