E. Latres et al., CHROMOSOME-17 ABNORMALITIES AND TP53 MUTATIONS IN ADULT SOFT-TISSUE SARCOMAS, The American journal of pathology, 145(2), 1994, pp. 345-355
This study was designed to determine the frequency of structural genet
ic abnormalities of chromosome 17 and the incidence of TP53 mutations
as they relate to the biological behavior of adult soft tissue sarcoma
s. We analyzed a group of 73 soft tissue sarcomas of adults that were
clinically aad pathologically well characterized using molecular genet
ic techniques and expression studies. We then correlated genotype and
phenotype with pathological parameters. Overall, allelic loss of 17P a
nd 17q was identified in 53 and 29% of informative cases, respectively
. p53 nuclear overexpression was detected in 34% of the tumors analyze
d. We observed an association between 17p deletions and tumor presenta
tion being more frequent in recurrent and metastatic tumors than prima
ry lesion p53 nuclear overexpression was associated with tumor grade,
size, and more frequently detected in metastatic than primary sarcomas
. The 11 intragenic mutations characterized included 10 cases of singl
e base substitution and one single base deletion; 8 were of the missen
se type and 3 were nonsense. It is concluded that 17P deletions and TP
53 mutations are common events in adult soft tissue sarcomas and that
due to the trends observed with the cohort of patients analyzed they m
ay become prognostic markers for patients affected With these tumors.