Published online Mar 21, 2006. doi: 10.3748/wjg.v12.i11.1813
Revised: July 20, 2005
Accepted: August 26, 2005
Published online: March 21, 2006
We described two members in a family with gastroin-testinal stromal tumors (GISTs) without cutaneous hyperpigmentation. The patients were father and son who did not have cutaneous hyperpigmentation. Histological examination showed that these tumors were GISTs expressing CD34 and CD117. Tumor DNA extracted from paraffin-embedded specimens revealed somatic mutation with a deletion mutation at different codons in exon 11 of c-kit gene after direct sequencing analysis. No germline mutation was detected in DNA extracted from peripheral leukocytes obtained from the father and son. We propose that GISTs could be caused by sporadic somatic mutation in a family without germline mutation and hyperpigmentation.