Conclusion

The clinical description of Peutz-Jeghers syndrome has evolved over time and now can be defined specifically at the genetic level in a substantial subset of PJS patients. Currently, PJS can be defined as an inherited hamarto-matous polyposis syndrome, associated with mucocuta-neous lesions and an increased predisposition to numerous gastrointestinal and nongastrointestinal malignancies.

Many cases of PJS occur as a consequence of germline mutations in the STK11 gene, a serine/threonine kinase that appears to be an important nuclear kinase involved in cell growth and apoptosis pathways. Genetic testing for STK11 germline mutations is currently available on a clinical basis.

Finally, despite the recent advances in our understanding of PJS, STK11 mutations do not account for all cases of PJS, and it is likely that additional genes or loci remain to be identified. In addition, further studies of STK11 genotype/phenotype correlations are required to determine the role of allelic heterogeneity on the clinical manifestations of STK11 germline mutations. These studies promise to lead to more accurate application of genetic screening and cancer surveillance strategies to PJS family members.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment