Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation

Wuming Zhang; Xianqin Hu; Zhikang Chen; Chen Lai

doi:10.3389/fonc.2022.1052799

Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation

Front Oncol. 2022 Dec 22:12:1052799. doi: 10.3389/fonc.2022.1052799. eCollection 2022.

Authors

Wuming Zhang^{1

2

3}, Xianqin Hu^{1

2

3}, Zhikang Chen^{1

2

3}, Chen Lai^{1

2

3}

Affiliations

¹ Department of General Surgery, Xiangya Hospital of Central South University, Changsha, Hunan, China.
² Hunan Key Laboratory of Precise Diagnosis and Treatment of Gastrointestinal Tumor, Xiangya Hospital of Central South University, Changsha, Hunan, China.
³ International Joint Research Center of Minimally Invasive Endoscopic Technology Equipment & Standardization, Xiangya Hospital of Central South University, Changsha, Hunan, China.

Abstract

A synchronous case of small bowel adenocarcinoma(SAB) is reported, accompanied with gastrointestinal stromal tumor(GIST),and gangliocytomain in an elderly woman with neurofibromatosis type 1 (NF-1). A 67-year-old female was hospitalized with the chief complaint of abdominal pain, the computed tomography scan indicated a large bowel mass. Multiple tumors were found in the small intestine, through which two larger tumors (7 cm and 1.5 cm) were resected. A novel germline NF1 mutation and a PMS2 mutation were identified after genetic testing, followed by the exploration of possible relationship between them in promoting tumorigenesis. Our results suggest multiple gastrointestinal tumors emerging in NF1 patients, and genetic testing can better guide postoperative treatment in a more efficient way.

Keywords: GIST - gastrointestinal stromal tumor; NF-1 = neurofibromatosis type 1; NF1 mutation; PMS2 gene; small bowel adenocarcinoma.

Publication types

Case Reports