Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor

摘要: Germ-line mutations in the KIT receptor tyrosine kinase gene have been described families with a propensity to develop gastrointestinal stromal tumor (GIST). There is limited information from large kindreds regarding median age at diagnosis, detailed histopathology, clinical effects of imatinib therapy and chromosomal abnormalities gene. We identified kindred GIST. Each family member was interviewed appropriate medical records radiographic imaging were obtained. Archival tissue obtained confirm extract genomic DNA perform fluorescent situ hybridization cytogenetics Fifteen 79 individuals GIST this kindred. 8 males, mean diagnosis 53.9 (range 45–71) years. Histopathology revealed microscopic proliferation nodularity myenteric plexus, spindled morphology, diffuse Kit but variable CD34 staining low mitotic rates setting metastatic disease. A deletion codon 579 exon 11 normal family. Mutation cytogenetic analysis homozygous loss wild-type sequence one individual. Four 4 treated are alive without progression while 9 not deceased. This study describes an autosomal dominant pattern. associated benefit imatinib, utility mitoses predict malignant potential, novel © 2007 Wiley-Liss, Inc.