OUTDATED!
FOR ARCHIVE ONLY!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
pj4steph@aol.com
*****
INFORMATION AND NEWS
* 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. pj4steph@aol.com
* 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 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2886463/
* 2009 50+ page report from Mayo Clinic on PJS, appropriate for patients, family, doctors and genetic counselors at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=famcan or at pjsinfo.com New 2010 addition on PJS in children and adolescents.
* 2009 screening guidelines for PJS and Juvenile Polyposis Syndrome from National Comprehensive Cancer Network at http://www.nccn.org/about/news/newsinfo.asp?NewsID=227 (free registration required).
* 2009 eMedicine article on PJS and JPS
http://emedicine.medscape.com/article/182006-overview
* 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: http://www.eurekalert.org/pub_releases/2009-06/si-hc061209.php Free full text article: http://www.pnas.org/content/106/27/11137.long
* 2007 Medscape article on PJS, JPS & similar polyposis syndromes www.medscape.com/viewarticle/561747
* 2006 Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome. Click on full-text pdf for free full text. http://clincancerres.aacrjournals.org/cgi/content/full/12/10/3209
* 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.
http://www.cghjournal.org/article/PIIS1542356505010931/abstract?source=aemf
* Genetest has many resources for both PJS (2007) and JPS (2008). Good to share with medical professionals. Also includes genetic testing laboratories. http://www.genetests.org/
* 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
TREATMENT OPTIONS
* Learn more about the PillCam capsule endoscopy for small bowel imaging and find a physician in your region at givenimaging.com
* 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 www.fujinonendoscopy.com . Learn more about its use in adults at http://www.baylorhealth.edu/proceedings/19_4/19_4_Terauchi.pdf
and in children at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799917/
* Olympus has developed both an endocapsule and single balloon enteroscopy. http://www.olympusamerica.com/msg_section/index.asp
* There is another type of enteroscopy called spiral enteroscopy that has been used in PJS patients. http://www.spirusmed.com/enteroscopy.html
GENETIC TESTING
* 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 genetests.org 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 Rodney.Scott@newcastle.edu.au
* A Funny Polyp Study for those with unexplained polyposis. Please have your medical care professional contact them for more information www.lerner.ccf.org/gmi/research/funnypolyp
TRIALS AND STUDIES SEEKING PARTICIPANTS
* 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
http://clinicaltrials.gov/ct2/show/NCT00811590
* Johns Hopkins in Baltimore, MD also has a pancreatic cancer screening study called CAPS4 that is open to PJS participants http://clinicaltrials.gov/ct2/show/NCT00714701
* H. Lee Moffitt Cancer Center in Tampa Florida also has a pancreatic cancer screening study http://www.moffitt.org/site.aspx?spid=CABF01C1E2F4447983BDD663F9FAAC09 Here's an article by the study's principle investigator, Dr. Klapman www.moffitt.org/moffittapps/ccj/v15n4/pdf/280.pdf
* Dr. Stratakis continues to study PJS patients in Bethesda, MD, USA http://clinicaltrials.gov/ct/show/NCT00001452?order=2
ADDITIONAL RESOURCES
* European laboratories, research studies and information
http://www.orpha.net/
* Juvenile polyposis syndrome 2009 http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome
* Peutz-Jeghers syndrome 2006 http://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome
* More resources at peutz-jeghers.com
* Many free, full-text, old articles on PJS are available at
www.jeghers.com/pj_pubmed.aspx
*************
ONLINE SUPPORT GROUPS - INHERITED CANCER SYNDROMES
PJS & Juvenile Polyposis - updated & revised listserv. The affected, family, friends, medical professionals and researchers are welcome to join the free online 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. If you'd like to join & need help, please write to Pj4steph@aol.com
Sindrome de Peutz-Jeghers en Espanol
sindromedepeutzjeghers@googlegroups.com
http://groups.google.es/group/sindromedepeutzjeghers?hl=es
Peutz-Jeghers syndrome in China
subberry@gmail.com
HNPCC
http://health.groups.yahoo.com/group/HNPCC/
Gardner syndrome
http://health.groups.yahoo.com/group/gardnerssyndrome/
FAP/Gardner syndrome
http://listserv.acor.org/archives/fap-gs.html
Li-Fraumeni
http://listserv.acor.org/archives/li-fraumeni.html
Colon Cancer
http://listserv.acor.org/archives/colon.html
Cowden/PTEN
http://health.groups.yahoo.com/group/cowdensyndrome/
Stephanie Sugars
pj4steph@aol.com
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