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

Abstract

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.

• Authors: Bin-Bin Li, Hui Zheng, Yi-Dan Lou, Wen-Wei Zhang, Song Zheng
• Journal: Hereditary cancer in clinical practice (Hered Cancer Clin Pract) Vol. 21 Issue 1 Pg. 18 (Sep 29 2023) ISSN: 1731-2302 [Print] Poland
• PMID: 37773168 (Publication Type: Journal Article)
• Copyright: © 2023. BioMed Central.