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Robotic Duodenal Sleeve Resection for Gastrointestinal Stromal Tumor with Rare Exon 8 KIT Mutation Following Neoadjuvant Imatinib
Published on: April 3, 2026
Multiple gastrointestinal stromal tumors with a germline c-kit mutation
Hyun Jung Kim1, Sung-Jig Lim, Kyeongmee Park
1Department of Pathology, Sanggye Paik Hospital, Seoul, Korea.
Pathology International
|September 28, 2005
Summary
This study reports a rare case of multiple gastrointestinal stromal tumors (GIST) in a Korean man with a c-kit germline mutation. The findings highlight a unique mutation pattern in both normal and tumor tissues.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant disorder.
- Fewer than seven families worldwide have been identified with c-kit germline mutations.
Observation:
- A 38-year-old man presented with multiple intestinal GIST, comprising approximately 30 masses.
- Tumors exhibited characteristic CD117-positive spindle/epitheloid cells with increased mitotic activity.
- Hypertrophy of the myenteric plexus with CD117-positive cells was noted in the affected intestinal segment.
Findings:
- A heterozygous c-kit missense mutation (T --> C, Val --> Ala) at codon 559 was identified in normal tissue.
- The identical mutation was found to be homozygous in the tumor samples.
- This represents the first documented case of multiple GIST with a c-kit germline mutation in Korea, featuring a unique mutation in both normal and affected alleles.
Implications:
- This case expands the understanding of GIST genetic heterogeneity.
- Further investigation is needed to elucidate the significance of the identical mutation in normal and tumor alleles.
- Highlights the importance of genetic analysis in familial GIST cases.
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