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PMID: 37773168 Published · epublish English Journal Article

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

Hereditary cancer in clinical practice ·Vol. 21 ·No. 1 ·2023-09-29 ·页码 18

Li BB, Zheng H, Lou YD, Zhang WW, Zheng S

Abstract

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. 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
作者与单位
共 5 位作者,点击展开单位 / ORCID
Li Bin-Bin
The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, 310053, Zhejiang, China. | Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China.
Zheng Hui
Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China.
Lou Yi-Dan
Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China. | Zhejiang University School of Medicine, Hangzhou, China.
Zhang Wen-Wei
The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, 310053, Zhejiang, China. | Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China.
Zheng Song
The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, 310053, Zhejiang, China. tztree@126.com. | Department of Medical Oncology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China. tztree@126.com. | Department of Medical Oncology, Affiliated Hangzhou Cancer Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China. tztree@126.com. | Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, Hangzhou, 310000, Zhejiang, China. tztree@126.com.
Article Info
Journal
Hereditary cancer in clinical practice
Abbr.
Hered Cancer Clin Pract
ISSN
1731-2302
Corresponding email
Published
2023-09-29
电子出版
2023-00-29
页码
18
Language
English
Country/Region
Poland
NLM ID
101231179
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