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

Bin-Bin Li; Hui Zheng; Yi-Dan Lou; Wen-Wei Zhang; Song Zheng

doi:10.1186/s13053-023-00262-4

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

Hered Cancer Clin Pract. 2023 Sep 29;21(1):18. doi: 10.1186/s13053-023-00262-4.

Authors

Bin-Bin Li^{1

2}, Hui Zheng², Yi-Dan Lou^{2

3}, Wen-Wei Zhang^{1

2}, Song Zheng^{4

5

6

7}

Affiliations

¹ The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, 310053, Zhejiang, China.
² Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China.
³ Zhejiang University School of Medicine, Hangzhou, China.
⁴ The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, 310053, Zhejiang, China. tztree@126.com.
⁵ Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China. tztree@126.com.
⁶ Department of Medical Oncology, Affiliated Hangzhou Cancer Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China. tztree@126.com.
⁷ Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, Hangzhou, 310000, Zhejiang, China. tztree@126.com.

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.

Keywords: ERCP; GIST; NF1; Neuroendocrine tumors; Pancreas divisum; Periampullary adenoma.