Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2019; 7(24): 4398-4406
Published online Dec 26, 2019. doi: 10.12998/wjcc.v7.i24.4398
KIT and platelet-derived growth factor receptor α wild-type gastrointestinal stromal tumor associated with neurofibromatosis type 1: Two case reports
You-Wei Kou, Ying Zhang, Ya-Ping Fu, Zhe Wang
You-Wei Kou, Department of Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Ying Zhang, Ya-Ping Fu, Zhe Wang, Department of Pathology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Author contributions: Wang Z and Kou YW conceived the study concept, conducted the analyses, and drafted the manuscript; Wang Z and Fu YP collected clinical samples and analyzed clinical data; Zhang Y performed and analyzed DNA sequencing experiments; Fu YP assisted with figures and experimental design; Wang Z and Kou YW developed the theoretical frameworks, interpreted data, and critically reviewed the manuscript; All authors read and approved the final manuscript.
Supported by National Natural Science Foundation of China, No. 81601692; Program of Liaoning Province Department of Education, No. LK2016002.
Informed consent statement: Consent was obtained from the patients.
Conflict-of-interest statement: The authors declare no conflict of interest.
CARE Checklist (2016) statement: The manuscript was revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Zhe Wang, PhD, Associate Professor, Department of Pathology, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, Liaoning Province, China. wangz@sj-hospital.org
Telephone: +86-24-9661575211 Fax: +86-24-9661575211
Received: September 27, 2019
Peer-review started: September 27, 2019
First decision: November 19, 2019
Revised: November 22, 2019
Accepted: November 26, 2019
Published online: December 26, 2019
Abstract
BACKGROUND

Gastrointestinal stromal tumors (GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1 (NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.

CASE SUMMARY

A 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT (CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600E mutation. The patients were alive and well during the follow-up period (range: 0.6-5 yr).

CONCLUSION

There have been only a few previous reports of GISTs associated with NF-1. Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence, genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intra-abdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities. Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.

Keywords: Neurofibromatosis, Gastrointestinal stromal, KIT and platelet-derived growth factor receptor α wild type, Molecular genetic studies, Neurofibromatosis type 1, Case report

Core tip: Gastrointestinal stromal tumors (GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Here we reported two cases of KIT and platelet-derived growth factor receptor α wild-type GISTs with neurofibromatosis type 1. Although GISTs with neurofibromatosis type 1 have morphologic and immunohistochemical similarities with common GISTs, the pathogenesis, incidence, genetic background, and prognosis are not completely known. A medical history of neurofibromatosis type 1 in a patient who has gastrointestinal bleeding or anemia and an intra-abdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities.