Peutz-Jeghers+Syndrome

Peutz-Jeghers Syndrome is an inherited condition where noncancerous polyps form in the gastrointestinal tract. Those who suffer from Peutz-Jeghers Syndrome are at an increased risk of developing cancers, most often seen in the GI tract, cervix, pancreas, breast, or ovaries ([]).
 * Name of Disease:** Peutz-Jeghers Syndrome.




 * Root Cause:** Peutz-Jeghers Syndrome is caused by a germline mutation in the STK11/LKB1 gene. This gene is located on the short arm of chromosome 19 at the location 13.3. It is generally inherited in an autosomal dominant manner which means that only the mutated gene from one parent is enough to pass the disease to the next generation. This gene is used to create an enzyme called serine/threonine kinase 11 which regulates cell growth, orientation, and placement, as well as tumor suppression. This kinase also promotes apoptosis and cell death (Hernan et al., 2004). Due to this mutation and the lack of the regulative enzyme polyps are able to grow in the digestive tract and can lead to additional tumors and the onset of cancer.


 * Affected cell types/tissues/organs/systems:** Peutz-Jeghers Syndrome affects the gastrointestinal tract and other mucous membranes. It can also affect the cervix, pancreas, breast, ovaries, testicles, and lungs if it develops into cancer.


 * Historical Background:** The term Peutz-Jeghers Syndrome was first used in 1957, but the discovery was made much earlier than that. In 1895, a set of twins with Melanotic macules (pigmented patches of skin) was reported. These twins later displayed other symptoms of what is now known as Peutz-Jeghers Syndrome. One twin died from intussusception, the other died from breast cancer. In 1921, Johannes Peutz reported two boys from the same family with melanotic macules and intestinal polyps. Then in 1949, Harold Jeghers, along with others, reported ten more cases of the sort ([]).


 * Common Symptoms:** Mucocutaneous Hyperpigmentation (brown or bluish-gray spots) lips, gums, lining of mouth, eyes, and nostrils; clubbed fingers or toes; abdominal cramping; blood in stool; vomiting.


 * Standard Treatments**: Iron supplements to assist in counteracting the blood loss; surgical removal of polyps.

Current studies look to identify better monitoring of Peutz-Jeghers Syndrome, gastrointestinal polyps, and cancerous growths. A study performed by Latchford et al. was a retrospective review of previous examinations and procedures using hospital and registry notes in addition to endoscopy and histology reports. The study also looked at current procedures to provide a longitudinal study of observation and treatment methods and their correlation with complications from these procedures, as well as overall outcome and progression of the disease. Sixty-three patients from forty-eight different pedigrees were analyzed with seven hundred seventy-six endoscopy procedures throughout the study Latchford et al., 2011). Baselines were taken and regularly monitored for many years through each patient’s lifespan. As a result of this heavy monitoring, there were no cases of GI luminal cancerous growth, and no emergency surgical interventions were performed (Latchford et al., 2011). Peutz-Jeghers Syndrome does not always lead to cancer, but this heavy monitoring is considered very safe and can lead to better quality of life and fewer incidences of cancer development. Additional research looks even further into the dangers of this disease by highlighting the overall risk of developing cancer as well as other health factors such as internal bleeding. Another paper published by Latchford et al. indicates that between 1 in 50,000 to 1 in 200,000 infants are born with this disease every year and although the disease has been identified over fifty years ago, there is still a lot of information missing on the disease (Latchford et al., 2011)(2). The study also shows an increased risk of cancer with this disease with a rapid increase in cancer formation after the age of 50. Latchford et al., 2011)(2).
 * Current Research:**


 * References:**

Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K., & Walter P. (2008). “Molecular Biology of the Cell: Fifth Edition.” //Garland Science, Taylor & Francis Group LLC, 270 Madison Avenue, New York, NY 10016//. Pages 564-568.

Hernan, I., Roig, I., Martin, B., Martinez, M., & Carballo, M. (2004). “ De novo germline mutation in the serine-threonine kinase STK 11/ LKB1 gene associated with Peutz-Jeghers Syndrome.” //Clin Genet//. Volume 66, Issue 1. Pages 58-62.

Latchford, A., Neale, K., Phillips, R., & Clark, S. (2011). “Peutz-Jeghers Syndrome: Intriguing Suggestion of Gastrointestinal Cancer Prevention From Surveillance.” //Diseases of the Colon and Rectum//. Volume 54, Issue 12. Pages 1547-1551.

Latchford, A., & Phillips, R. (2011)(2). “Gastrointestinal polyps and cancer in Peutz-Jeghers Syndrome: Clinical aspects.” //Journal of Family Cancer//. Volume 10. Pages 455-461.