A case of planar-type GIST of the sigmoid colon showing diverticular structure with perforation
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(2020) 18:125
CASE REPORT
Open Access
A case of planar-type GIST of the sigmoid colon showing diverticular structure with perforation Yuka Shintaku1, Yuya Asano1, Takahiro Watanabe2, Takako Kihara1, Eri Ishikawa1, Yuan Jiayin1, Neinei Kimura1, Koji Kinoshita3 and Seiichi Hirota1*
Abstract Background: Gastrointestinal stromal tumors (GISTs) generally form well-defined mass lesions. However, some cases of the flatly distributed and muscularis propria-replacing GISTs have been reported so far. We experienced an additional case of planar-type GIST of the sigmoid colon accompanied by a diverticulum with perforation. Case presentation: A 68-year-old Japanese male with sudden onset of abdominal pain was clinically diagnosed with gastrointestinal perforation, and an emergency abdominal operation was performed. A diverticulum with rupture was found in the sigmoid colon, but no apparent tumor was observed. Histological examination revealed bland spindle cells flatly proliferating and diffusely replacing the muscularis propria at the diverticular structure. The spindle cells were positive for KIT, DOG1, and CD34. Mutational analysis of the c-kit gene revealed that the lesion had a heterozygous deletion of 2 amino acids at codons 557 and 558 of exon 11. The mutation was not observed in the normal mucosa of the surrounding tissue. Conclusion: We diagnosed this case as an unusual planar-type GIST. Some similar cases have been reported in the sigmoid colon and other sites. We discuss the mechanism of development of the planar-type GISTs associated with the diverticulum. Keywords: Gastrointestinal stromal tumor, GIST, Planar-type, Sigmoid colon, Diverticulum, Perforation, C-kit gene mutation
Background Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal neoplasms of the gastrointestinal (GI) tract. GISTs are currently thought to be derived from the interstitial cells of Cajal (ICCs), the GI pacemaker cells [1]. Most GISTs are KIT-positive and have c-kit gene mutations [1]. These KIT signalingdriven neoplasms commonly originate in the stomach (60–70%) and small bowel including the duodenum * Correspondence: [email protected] 1 Department of Pathology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan Full list of author information is available at the end of the article
(20–30%) and rectum (5–10%), but rarely occur in other GI tracts, especially in the colon. Approximately 10% of GISTs have platelet-derived growth factor receptor alpha (PDGFRA) gene mutations and most of them develop in the stomach. GISTs generally form well-defined mass lesions. However, some cases of the flatly distributed and muscularis propria-replacing GISTs have been reported so far [2–7]. Here we present an additional case of planar-type GIST of the sigmoid colon accompanied by a diverticulum with perforation. We performed a literature review and discussed the mechanism of planar-type GIST formation.
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attributi
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