Friday, December 30, 2011

PJS - gastrointestinal cancer prevention from surveillance?



The following abstract from St. Mark's in London shares some intriguing suggestions. Can imaging, scopes, and surgery to find and remove polyps reduce our cancer risk? And, is our cancer risk from the polyps? Or are polyps a symptom of an underlying problem (ie. our gene defect)?  For those curious to learn more, I've included links to related articles in my commentary.

Peutz-Jeghers Syndrome Meet and Greet DVD Available for Purchase

Peutz-Jeghers Syndrome Meet and Greet DVD Available for Purchase
$10 individual or family member
$20 professional or institution
Ordering instructions below


The Third Annual Peutz-Jeghers Syndrome (PJS) Meet and Greet was held at The Children’s Hospital in Denver, Colorado in July 2011.


A few of the many topics covered by presenters include risk reduction, genetic counseling, children, screening guidelines, and the action of the PJS gene.

The two-hour DVD of the panel discussion includes:

Monday, October 24, 2011

Two studies of the mTOR inhibitor everolimus in Peutz-Jeghers syndrome

Two studies of the mTOR inhibitor everolimus in Peutz-Jeghers syndrome
A patient-view report by Stephanie Sugars

My 2009 report on mTOR inhibitors in PJS

Drug directions in PJS – RAD001 (aka everolimus and Afinitor), an mTOR inhibitor
A patient-view report by Stephanie Sugars 
January 17, 2009  

Part one of three: These are the thoughts of a PJS patient, not a medical professional. I'm thinking like a patient advocate and wondering what we might want to consider about using these drugs and participating in clinical trials for them. 

I don't mean to discourage anyone who'd like to participate in a clinical trial, it's a sacrifice that some will have to make to determine whether new drugs are both safe and effective for other patients. 

I do want us to consider possible risks and benefits and not get carried away in the excitement of a new era of chemoprevention in PJS.  

I've been following mTOR, rapamycin and RAD001 (everolimus) in PJS and our gene, LKB1 for many years. I heard about the Salt Lake City trial (http://www.clinicaltrials.gov/ct2/show/NCT00811590) in October 2007 at the Collaborative Group of Americas on Inherited Colorectal Cancer conference.

Sunday, July 3, 2011

Follow-up on children with PJS

If a child has been diagnosed with PJS by some combination of family history, spots and genetic testing, but doesn't have polyps, what screening tests and follow-up surveillance tests are recommended by PJS experts?

There are several different expert opinions on this, but all suggest that annual full gastrointestinal workups (including scopes and imaging) are unnecessary. The  range is from repeat the tests at 2-3 year intervals to wait until age 18 to test again.

Thursday, June 2, 2011

My article in Familial Cancer's Summer 2011 PJS issue

Familial Cancer Journal is publishing a special issue on Peutz-Jeghers syndrome and the editors have graciously included an article by me. I hope those who can afford to will purchase the article - only $34.95 - from the website

For those who don't want to pay for the beautifully formatted version, please read ahead for the lovingly written, but plainly formatted version.

Sunday, March 20, 2011

PJS Support Group 2011 Meet and Greet

OUTDATED!
FOR ARCHIVE ONLY!

PJS Support Group 2011 Meet and Greet

When: Friday, July 15, 2011 Time: 12:00-6:00 PM

Where: The Children's Hospital Aurora, Colorado, USA

Rooms: Rooms for panel discussion and for children to play.

Outline of events:
12:00 Lunch
1:00-4:00 PM Panel Discussion with Q and A

Presenters:  
Steven H. Erdman, MD http://www.nationwidechildrens.org/gd/applications/controller.cfm?page=237&pname=pprofile&pid=8017&Gsection=PFV  
Edward (Ed) J Hoffenberg, M.D. http://www.thechildrenshospital.org/about/doctor/detail.aspx?doctorID=853&sid=311426
Douglas L. Riegert-Johnson, M.D. http://www.mayoclinic.org/bio/13307703.html  
Possible Presenter:
Dr. Dennis Ahnen PJS adult specialist at University Colorado http://www.ucdenver.edu/academics/colleges/medicalschool/departments/medicine/Gastroenterology/Faculty/Pages/Faculty/DennisJAhnen,MD.aspx


4:00-6:00 PM Rooms open for continued socializing.

For more information contact Heidi at neverseenthat10@YAHOO.COM