Peutz Jeghers Syndrome

Question: peutz jeghers syndrome info? Father had a polyp that tested postive in jejunum. Anyone else had experience with this?? My sister and I have started tests eg: colonoscopy/gastroscopy for this. Would love to hear from others who have had or know about it

Answer: You can find lots of us PJS people at http://listserv.acor.org/archives/pjs.html Much information below. - Stephanie ***************** Peutz-Jeghers Syndrome News Spring-Summer 2007 Here are several new resources for people with PJS. Sent with warm, healing wishes from Stephanie Sugars * The Genetest PJS entry has recently been updated and includes information about a new genetic testing method, the PillCam and a new surgical method. Good to share with medical professionals. http://www.genetests.org/ * Peutz-Jeghers Syndrome and Management Recommendations - article from Johns Hopkins includes suggested screening for PJS people & at-risk family members. http://www.cghjournal.org/article/PIIS1542356505010931/abstract?source=aemf * The new genetic test method, MLPA, has increased the accuracy of genetic testing. Those with previously negative or inconclusive test results may wish to be retested. Labs are listed at the genetests.org website. * Free genetic testing is available (no travel necessary) through Professor Rodney Scott, Division of Genetics, Hunter Area Pathology Services, John Hunter Hosipital, Lookout Road, NEW LAMBTON NSW 2305 AUSTRALIA rscott@hunter.health.nsw.gov.au * Learn more about the PillCam at givenimaging.com * Learn more about the new surgical method, double balloon enteroscopy at fujinon.com This method allows the entire small bowel to be scoped and will replace major or endoscopic surgery in some PJS patients. * Patients are reporting success with the bowel prep Miralax. www.miralax.com * In the USA there is a new pancreatic cancer screening study for PJS people. The first center to offer testing is Johns Hopkins in Baltimore, MD. UCLA in Los Angeles, CA; MD Anderson in Houston, TX; and Mayo Clinic in Rochester, MN will also have screening sites. http://www.pancreatica.org/CAPS3.html * A similar study is open in the UK in Liverpool http://www.liv.ac.uk/surgery/europac.html * And Dr. Stratakis continues to study PJS patients in Bethesda, MD, USA http://clinicaltrials.gov/ct/show/NCT00001452?order=2 * For laboratories, research studies and information in Europe http://www.orpha.net/ * For more information on PJS and to join the free support group http://listserv.acor.org/archives/pjs.html If email volume is a problem, join digest mode for one daily email. Or go nomail to search the archives as needed. * There are many new articles on PJS and the PJS gene LKB1 or STK11 available at http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

Question: Can you die from PEUTZ-JEGHERS SYNDROME? I am very concerned for my best friend! Please help!? WE HAVE BEEN FRIENDS FOR A LITTLE OVER 13 YRS NOW. WELL, ABOUT 11 YRS AGO I STARTED NOTICING "BLUISH-BLACK SPOTS" STARTING TO APPEAR ON HER LIPS. I KNEW THAT SOMETHING WASN'T RIGHT ABOUT THESE SPOTS: JUST ALL OF THE SUDDEN APPEARING! I WAS 21 YRS OLD, AND JUST HAD BEEN BLESSED TO HAVE LIVED THROUGH A BAD CASE OF MELANOMA SKIN CANCER, 1 YR PRIOR. UNFORTUNATELY, SHE WOULD NOT TAKE MY ADVICE AND GO TO A SPECIALIST TO HAVE THESE SPOTS LOOKED AT. NOW, IN THIS PAST MONTH,11 YRS LATER!, SHE FINALLY WENT TO A DOCTOR. THE SPOTS HAVE SPREAD EVERYWHERE ON HER LIPS AND ON THE INSIDE OF HER MOUTH, INCLUDING THE GUMS OF HER TEETH. SHE HAS SOME KIND OF DAY SURGERY IN TWO DAYS TO FIND OUT HOW BAD IT IS. I CAN'T EVEN SLEEP WITHOUT WORRYING ABOUT! PLEASE SOMEONE HELP ME WITH AT LEAST A CLUE OF WHAT THE POSSIBILITIES ARE OF HER DYING OF CANCER. I AM VERY UPSET AND WORRIED. THANK YOU, MONICA

Answer: The following is a pretty good web site that explains the Peutz-Jeghers Syndrome. While your friend is at a greater risk for cancer, I don't think this diagnosis is necessarily a death sentence. As you can see, she is probably going in for endoscopy to see if her small and large intestines are affected. If they have polyps, they will remove them and send the tissue samples to a pathologist to see if they are benign or not. If the doctor feels there is a risk, he/she may decide to remove parts of the bowel that are affected, but it looks like many people who suffer with this genetic anomaly live long productive lives. Just be there for her for support so if she gets bad news, she has someone to lean on. Think positive and hopefully she is going to be just fine. Don't worry too much right now. It isn't going to help anyone. Good luck to both of you.

Question: PANCREAS CANCER! Please read now......................!? For the past 2 months my Grandma in the Philippines is suffering from Pancreas Cancer and I am very sad that she is in stage 4. It has been two years since we last hugged each other I am just wondering, what is the cause of her disease? I look at wiki but I don't know which one: Age (particularly over 60)[2] Male gender African-American ethnicity[2] Smoking. Cigarette smoking nearly doubles one's risk, and the risk persists for at least a decade after quitting. [5] Diets low in vegetables and fruits[citation needed] Diets high in red meat[6] Obesity[7] Diabetes mellitus Chronic pancreatitis has been linked, but is not known to be causal Helicobacter pylori infection Family history, 5-10% of pancreatic cancer patients have a family history of pancreatic cancer. The genes responsible for most of this clustering in families have yet to be identified. Pancreatic cancer has been associated with the following syndromes; autosomal recessive ataxia-telangiectasia and autosomal dominantly inherited mutations in the BRCA2 gene, Peutz-Jeghers syndrome due to mutations in the STK11 tumor suppressor gene, hereditary non-polyposis colon cancer (Lynch syndrome), familial adenomatous polyposis, and the familial atypical multiple mole melanoma-pancreatic cancer syndrome (FAMMM-PC) due to mutations in the CDKN2A tumor suppressor gene.[8][1] Gingivitis or periodontal disease.[9] Alcohol might be a risk factor – see Pancreatic cancer section in Alcohol and cancer When I lived with her for a decade, she did not qualify to all the things that I listed above EXCEPT she is 74 years old OR maybe she ate dirty foods. Please pray for my grandma because she has 3 months to live.

Answer: It is not possible to determine the exact cause for most cancers. The risk factors that you have listed are correlations, not causes. What this means is that we know the risk factor and the disease are linked, but not that one causes another. When we figure out the specific mechanism that causes a cancer, we are well on the way to finding a cure. We are just not there yet with most cancers.