Absence of c-kit gene mutation in huge malignant gastrointestinal stromal tumor

Korean J Med > Volume 71(3); 2006 > Article

Original Article

The Korean Journal of Medicine 2006;71(3):951-955.

Absence of c-kit gene mutation in huge malignant gastrointestinal stromal tumor

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이화여자대학교 의과대학 내과학교실

증례 : c-kit 유전자 변이가 없는 거대 악성 위장관 간질종양 1예

김순섭&#;김명석&#;성혜영&#;김진일&#;김재광&#;최규용&#;전해명, , , , , ,

Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea

Abstract

Gastrointestinal stromal tumor (GIST) occupying left abdominal cavity was detected in a 50-year-old man who underwent mass resection and small bowel segmental resection. We diagnosed this case as malignant GIST because of CD117 positivity, mitotic index of 27 in 50 HPF, huge size of the mass and the metastatic lesions in liver. Although c-kit gene mutations were measured by polymerase chain reaction and DNA sequencing, no mutations were noted in the c-kit gene. 40 days after resection, GIST recurred in left abdominal cavity. The malignancy of GIST was determined by tumor size and mitotic index, but other factors like mutation of c-kit gene, Ki-67, p53, bcl-2, CD34 also had relevance. Especially, protooncogene c-kit mutation has been shown to play a key role in growth of GIST and occurred preferentially in malignant GIST. We report a case which malignant GIST rapidly progressed, but had no c-kit gene mutations.(Korean J Med 71:S951-S955, 2006)

Key Words: Gastrointestinal stromal tumor, Protooncogene C-kit, Gene mutation, Prognostic factor