Sunday, August 1, 2010

Updated PJS & JPS newsletter


Peutz-Jeghers Syndrome & Juvenile Polyposis News
August 2010

These resources are especially for those interested in PJS & JPS - the diagnosed, their friends, families and health professionals. Please share this with any and all. A list of Online Support Groups for people interested in inherited cancer syndromes is at bottom of this email.

Warmest healing wishes,
Stephanie Sugars


* June 26, 2010, was the second Peutz-Jeghers Syndrome Meet & Greet. Let me know if you'd like a copy of the handout from Mayo Clinic's Dr. Riegert-Johnson.

* 2010 free full text article includes PJS and Juvenile Polyposis Syndrome - Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood. by M. Manfredi

* 2009 50+ page report from Mayo Clinic on PJS, appropriate for patients, family, doctors and genetic counselors at or at New 2010 addition on PJS in children and adolescents.

* 2009  screening guidelines for PJS and Juvenile Polyposis Syndrome from National Comprehensive Cancer Network at (free registration required).

* 2009 eMedicine article on PJS and JPS

* 2009 PJS in the news. This story is about mice, not people. And no, these drugs aren't currently available to PJS human patients, though there is a small trial of them in Utah & Hawaii (see below). And the suggested FDG-PET scans for screening have several drawbacks including accuracy, expense & radiation exposure. Still, it's interesting that mouse PJS polyps show increased glucose metabolism. The PJS gene LKB1 affects both metabolism and cancer risk. Press release: Free full text article:

* 2007 Medscape article on PJS, JPS & similar polyposis syndromes

* 2006 Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome. Click on full-text pdf for free full text.

* 2006 Peutz-Jeghers Syndrome and Management Recommendations. This article from Johns Hopkins includes suggested screening for PJS people & at-risk family members. Click on full-text pdf for free full text.

* Genetest has many resources for both PJS (2007) and JPS (2008). Good to share with medical professionals. Also includes genetic testing laboratories.

* There are many new articles on PJS and the PJS gene LKB1 or STK11 available at

* Learn more about the PillCam  capsule endoscopy for small bowel imaging and find a physician in your region at

* Enteroscopy allows the entire small bowel to be scoped and replaces major and endoscopic surgery in some PJS patients.

* Learn more about double balloon enteroscopy, a new surgical method and get referrals to doctors who use it at . Learn more about its use in adults at
and in children at

* Olympus has developed both an endocapsule and  single balloon enteroscopy.

* There is another type of enteroscopy called spiral enteroscopy that has been used in PJS patients.

* The new genetic test method, MLPA, has increased the accuracy of genetic testing for PJS. Those with previously negative or inconclusive test results may wish to be retested. Labs are listed at the website.

* Genetic testing is available (no travel necessary) through Professor Rodney Scott, Division of Genetics, Hunter Area Pathology Services, John Hunter Hospital, Lookout Road, New Lambton, NSW 2305 Australia. Check with Dr. Scott for cost

* A Funny Polyp Study for those with unexplained polyposis. Please have your medical care professional contact them for more information

* There's a very small (ten participant) chemoprevention clinical trial for PJS people. This trial uses the  rapamycin analogue everolimus to target mTOR, a downstream target of the PJS gene LKB1.  Link to trial information

* Johns Hopkins in Baltimore, MD also has a pancreatic cancer screening study called CAPS4 that is open to PJS participants

* H. Lee Moffitt  Cancer Center in Tampa Florida also has a pancreatic cancer screening study Here's an article  by the study's principle investigator, Dr. Klapman

* Dr. Stratakis continues to study PJS patients in Bethesda, MD, USA

* European laboratories, research studies and information

* Juvenile  polyposis syndrome 2009

* Peutz-Jeghers syndrome 2006

* More resources at

* Many free, full-text, old articles on PJS are available at



PJS & Juvenile Polyposis - updated & revised listserv. The affected, family, friends, medical professionals and researchers are welcome to join the free online support group  If email volume is a problem, join digest mode for one daily email.  Or go nomail to search the archives as needed. If you'd like to join & need help, please write  to

Sindrome de Peutz-Jeghers en Espanol
Peutz-Jeghers syndrome in China


Gardner syndrome
FAP/Gardner syndrome


Colon Cancer


Stephanie Sugars

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