Mutations in Exon 11 of c-Kit Occur Preferentially in Malignant versus Benign Gastrointestinal Stromal Tumors and Do Not Occur in Leiomyomas or Leiomyosarcomas

摘要: Gastrointestinal stromal tumors (GISTs) comprise the largest subset of mesenchymal gastrointestinal tract. These neoplasms differ histologically and immunohistochemically from typical leiomyomas leiomyosarcomas. Most GISTs express CD34 CD117 (c-kit protein) but not desmin. Recently, gain-of-function mutations c-kit proto-oncogene have been shown in five solitary leukocytes a family with multiple GISTs. An in-frame deletion or point mutation exon 11 was detected these cases. Stable transfection mutant complementary DNA also to induce malignant transformation murine lymphoid cells, suggesting that contribute tumor development. In this study, we evaluated 43 14 smooth muscle for by PCR-assay. Half (12/24) only one benign GIST (1/19) revealed bands. No bands were found 3 Sequence analysis confirmed presence an 3–21 bp all 13 Wild-type 8 7 without cloned sequenced. Additional 2 There no 4 The status did correlate detectable expression CD117, as virtually such showed immunoreactivity. occur preferentially might be clinically useful adjunct marker evaluation conservation pattern, observed consecutive lesions same patients, suggests markers monitoring recurrence minimal residual disease.