We conclude that expressed somatic mutations in infrequently mutated genes beyond the well-characterized ones (e.g., <i>BRAF, RAS, CDKN2A, PTEN, TP53</i>), such as <i>RAC1</i> and <i>SPEN</i>, may have prognostic significance in MM.
Germline PTEN/MMAC1 mutations have been implicated as the predisposing factor in Cowden disease and other hamartoma syndromes, and somatic mutations and deletions have been identified in a wide range of human cancers, including 30-40% of metastatic melanoma cell lines.
In this study, we screened 45 melanoma cell lines and 17 paired uncultured metastatic melanoma and peripheral blood specimens for PTEN/ MMAC1 alterations using PCR-SSCP and direct sequencing.