RESUMO
BACKGROUND: Smooth muscle tumours are common in the genito-urinary and gastro-intestinal tracts, but primary leiomyoma of the liver is extremely rare. Only a few cases have been reported to date. CASE OUTLINE: We report a case of giant leiomyoma of the liver in a 67-year-old woman that was treated by an extended right hepatectomy. There was no evidence of leiomyoma elsewhere in the abdomen (including the uterus). DISCUSSION: This appears to be the largest hepatic leiomyoma reported in the literature.
RESUMO
Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a very early age. The proband had a severe microsatellite instability (MIN) phenotype in both tumor and normal colon mucosa, and mutations in the TGFbeta-RII and APC genes in the colorectal tumor. We identified two germline mutations within the PMS2 gene: a G deletion (1221delG) in exon 11 and a four-base-pair deletion (2361delCTTC) in exon 14, both of which were inherited from the patient's unaffected parents. These results represent the first evidence that two germline frameshift mutations in PMS2, an MMR gene which is only rarely involved in HNPCC, are not pathogenic per se, but become so when occurring together in a compound heterozygote. The compound heterozygosity for two mutations in the PMS2 gene has implications for the role of protein PMS2 in the mismatch repair mechanism, as well as for the presymptomatic molecular diagnosis of at-risk family members. Furthermore, our data support and enlarge the notion that high DNA instability in normal tissues might trigger the development of cancer in this syndrome.
