Juvenile Polyposis Syndrome News
July 2015
For many years I've moderated an online support group for people affected by two different rare genetic disorders Peutz-Jeghers Syndrome (PJS)
& Juvenile Polyposis Syndrome (JPS).
As part of that work, I've also published a newsletter and maintained the PJS News blog. http://peutz-jeghersnews.blogspot.com
I've just updated the following newsletter today and would like it to be available to those interested in JPS too, so I created this new blog.
Both disorders lead to gastrointestinal
polyps and increased risk of cancer, but they are different disorders, so please
look before clicking on a link.
Warmest healing
wishes,
Stephanie Sugars
*****
INFORMATION AND
NEWS
All journal
articles below are available free full text. For more titles and abstracts,
please search PubMed
* The
Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group
Please join us
there by clicking on the link and following instructions to join. If you aren’t
ready to join, please bookmark the website for future use.
* Peutz-Jeghers News
blog by Stephanie Sugars
* 2015
Peutz-Jeghers Syndrome Meet & Greets are being planned for both Boston and
Houston.
* 2015
Introductory article to PJS and JPS
* 2015 eMedicine
article on PJS
* 2015 Genetic counseling practice
guidelines that include PJS and JPS
* 2014
Storytelling event – I tell of PJS and its affect on my life with breast cancer
and relationship with death
* 2014 Free online
40-minute radio show about PJS
* 2014
Introductory article PJS and JPS and similar polyposis syndromes
* 2014 Juvenile
Polyposis syndrome entry at GeneReviews
* 2014 Juvenile
Polyposis syndrome articles
* 2014 Cancer.Net
PJS entry
and 2014 JPS entry
* 2014 Update on
Imaging in PJS
* 2014 Intro to
PJS for affected and their loved ones from St. Mark’s Hospital Polyposis
Registry in London
* 2014 Intro to
JPS for affected and their loved ones from St. Mark’s Hospital Polyposis
Registry in London
* 2013 GeneReviews
PJS entry
* 2013 Genetics
Home Reference
Peutz-Jeghers
syndrome entry
* 2012 Juvenile
polyposis syndrome: a study of genotype, phenotype, and long-term outcome
free slide presentation
* 2012 PJS and
family planning: the attitude towards prenatal genetic testing and
pre-implantation genetic diagnosis
* The Summer 2011
issue of Familial Cancer journal focuses on
Peutz-Jeghers
syndrome. The issue includes an article by me,
Peutz-Jeghers
syndrome: a patient’s view. It can be purchased for
$34.95 at
Or read in an
unformatted version at
* 2011 The third
Peutz-Jeghers Syndrome Meet & Greet was held in Denver, Colorado. For a
copy of the DVD, please contact Heidi at neverseenthat10@yahoo.com
* 2011 article
about JPS - Juvenile polyposis syndrome
* 2010 radio show
about the PJS Online Support Group
(click on Among
Ourselves - PJS begins around minute 15)
* 2010 article
from 2007 conference of European PJS specialists
Peutz–Jeghers
syndrome: a systematic review and recommendations for Management
free full text
(note: this link may
not work, if not please copy and paste the URL into your browser to reach the
article.)
* 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
* 2010 report on
Genetic mosaicism in PJS people. This is something patients and family members
should discuss with genetic counselors…but they don't have the information yet.
* 2010 report – How to have a PJS-free baby
* 2009 Implications
of Peutz-Jeghers Syndrome in Children and Adolescents
* 2009 Juvenile
Polyposis entry from Cancer Syndromes textbook
* 2009 Juvenile
Polyposis syndrome entry from Genetics Home Reference
* 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 was a small trial of
them in Utah. 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
* 2008 50+ page PJS
entry from Cancer Syndromes textbook
appropriate for
patients, family, doctors and genetic counselors at
* 2006 Frequency
and Spectrum of Cancers in the Peutz-Jeghers Syndrome.
* 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 tab for free full text.
TREATMENT OPTIONS
* Learn more about
the PillCam capsule endoscopy for small bowel imaging and find a physician in
your region at www.givenimaging.com
* Enteroscopy
allows the entire small bowel to be scoped and replaces major and endoscopic
surgery in some PJS patients. Interventional balloon enteroscopy at http://www.ncbi.nlm.nih.gov/pubmed/22586550
* 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
* Olympus has technologies
for reaching and visualizing the small bowel including endocapsule, spiral
enteroscopy and single balloon enteroscopy. http://www.olympusamerica.com/msg_section/index.asp
GENETIC TESTING
* The 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.
Clinic and laboratory directories for PJS http://www.ncbi.nlm.nih.gov/gtr/conditions/C0031269/
* Clinic and laboratory directories for JPS
And for JPHT
Juvenile
polyposis/hereditary hemorrhagic telangiectasia syndrome
* PJS 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.
TRIALS AND STUDIES
SEEKING PARTICIPANTS
* Pancreatic
cancer screening studies open to PJS participants
Baltimore,
Maryland (ask about study sites in Massachusetts, Ohio, and Pennsylvania)
White Plains, NY
Arkansas
Tampa Florida also
has a pancreatic cancer screening study
* Dr. Stratakis,
an endocrinologist with the NIH, continues to study PJS patients in Bethesda,
MD, USA
* Study of people
with PJS and JPS in France
ADDITIONAL
RESOURCES
* European
laboratories, research studies and information
* Many free,
full-text, old articles on PJS are available at
*************
ONLINE SUPPORT
GROUPS - INHERITED CANCER SYNDROMES
Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support
Group
The affected,
family, friends, medical professionals and researchers are welcome to join the
free online support group https://www.smartpatients.com/communities/peutz-jeghers-syndrome
Peutz-Jeghers
Syndrome Support – Facebook Group
Now a closed group
Sindrome de
Peutz-Jeghers en Espanol
Peutz-Jeghers
syndrome in China
Hereditary Colon Cancer Takes Guts
Familial
Adenomatous Polyposis Foundation
FAP/Gardner
syndrome
Lynch Syndrome or HNPCC
Li-Fraumeni
Cowden/PTEN
Stephanie Sugars
