7. May, 2003

Dear PJS friends,

It's time for an update on Peutz-Jeghers syndrome. If you are receiving this, it's because you have a personal or professional interest in PJS. Perhaps you or a loved one is affected. Or you had a tentative diagnosis of PJS. Or you are a doctor or genetic counselor working with PJS families. Or a researcher interested in PJS, LKB1/STK11.

As manager of the Peutz-Jeghers syndrome online support group, I've met many people interested in PJS via e-mail. This news letter focusses on research -- what the researchers are finding and how you can participate in research. If you'd like more information (including references) on any item, please contact me at pj4steph@aol.com.

Peutz-Jeghers Syndrome online support group
Our free online support group just celebrated its third anniversary and has over 130 members. People with PJS, their friends and family members are welcome to join our group. To join or rejoin us, go to listserv.acor.org/archives/pjs.html and follow instructions to join or leave the list (change settings). If mail volume is a problem, you may want to subscribe digest mode for one e-mail daily or even go nomail and use web access for the group.

Peutz-Jeghers syndrome website
Another woman with PJS, Karen Oyler, put together a lovely website with lots of information and links related to PJS. Be sure to visit and bookmark it at www.peutz-jeghers.com. The site includes international resources.

Surgical procedure successful in removing all polyps from small bowel
St. Mark's Hospital in London, UK, specializes in gastrointestinal polyposis disorders. A recent article by staff indicates that "intraoperative enteroscopy", a method of removing small bowel polyps using a scope during major surgery, is more effective at finding and removing all polyps from the small bowel than the usual method using touch and illumination. This method has been used for over a decade at St. Mark's and reduces the frequency of major surgery. Not all surgeons use this technique, so it's wise to ask before undergoing surgery. Contact St. Mark's or me for further nformation.
URL: www.polyposisregistry.org.uk/stmarks/default.asp
E-mail: kneale@netcomuk.co.uk

New guidelines for screening children
Dr. Warren Hyer in London, UK has written about pediatric screening in PJS children. A group member recently reported that a recent study by Dr. Hyer "determined that 2 out of 3 PJS children have surgery before age 17. Of those having surgery 2 out of 3 were carried out as emergency surgery. This was out of a population of 40 PJS families with 70 or so children represented. Dr. Hyer explained that the safest way to carry out surgery is if it is planned and carried out by a paediatric surgeon. Hence his new Polyposis Clinic seeks to much reduce the rate of emergency paediatric surgery."
Secretary Tel: 020.8869.2644
Secretary Fax: 020.8869.3477

PJS mice and flies
Researchers from around the world have developed both mice and flies with PJS. From their studies of other species, they hope to understand more about PJS and the function of the PJS gene in embryogenesis and people. The PJS gene product is widely distributed throughout the tissues of humans and other animals and plays a role in development of embryos and cancer prevention. When mice are designed with both copies of the PJS gene inactivated, they don't survive gestation -- due in part to vascular abnormalities. Even mice with only one copy of the PJS gene inactivated develop GI polyps and cancer. The PJS gene plays a role in fruit fly development through development of cell polarity. The cancer.gov emice site has more information on mice colorectal cancer models and LKB1/STK11 emice.nci.nih.gov. The Online Mendelian Inheritance in Man has information about animal models in PJS at www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602216

Estimated lifetime risk of cancer in people with PJS
The Johns Hopkins Hereditary Colorectal Cancer Program Newsletter winter, 2003 issue, has a front page article on PJS which includes this paragraph, "A study by Giardiello et al. in 2000 had some surprising, and concerning, conclusions, Dr. Giardiello and his colleagues reviewed published material pertaining to PJS in an attempt to determine the lifetime risk of various cancers in individuals affected with this condition. It was determined that the overall lifetime risk to develop at least one type of cancer was 93%. The most commonly seen cancers were those of the breast, colon, pancreas and stomach. Increased risk was also seen for cancers of the small intestine, lung, ovary, cervix, uterus and testes." Screening and surveillance guidelines for PJS folks will hopefully lead to prevention and early detection of cancer.

Updated screening and surveillance guidelines
For the most recent screening and surveillance guidelines for PJS folks:

COX-2 overexpression in PJS polyps
Researchers in both USA and Finland found an overexpression of COX-2 or cyclooxygenase in PJS mice polyps and PJS human polyps. COX-2 inhibitors, drugs that inhibit overexpression of COX-2 are currently used to reduce polyps in people with FAP, another hereditary polyposis/cancer syndrome. There is a small clinical trial using COX-2 inhibitors in Finland. I'll let you know if I hear of trials in USA or other places. Please contact me for additional information.

Hereditary Colon Cancer Association conference in southern California in October 2003
If you are interested in the conference or work of the HCCA, contact them through their website at www.hereditarycc.org/index.html. Or telephone: 1.800.264.6783.

Genetic testing laboratories
Genetic testing should be arranged through a genetic counselor. Here are three labs in USA & UK who are doing genetic testing. Genetic counseling referral sites are listed below this entry.

Genetic counselors
Though mainly located in the USA, international resources are available.

Current studies
Before enrolling in any studies or clinical trials, you may want to read the Genetic Alliance brochure, Informed Consent. It includes questions for you and the researchers. www.geneticalliance.org/geneticissues.html

Recent medical articles about Peutz-Jeghers Syndrome
Access to abstracts and medical articles is available at PubMed. Go to the website, type Peutz Jeghers into the search box to find over 1000 articles. You can limit the search by typing in a second topic (example: Peutz Jeghers AND cancer) or limiting by age, gender, human or dates of publication. Go to www.ncbi.nlm.nih.gov/PubMed.

Some topics discussed recently in our group
Forming an international PJS organization; childbearing and child rearing; rolandic seizures in children; testicular tumors & gynecomastia in boys; older onset of PJS (40's and 50's); lung cancer; prevention; diet and supplements; genetic discrimination; uninsurance and recent rare disease legislation passed in USA.

You are welcome to share this e-mail with friends, family members, physicians and others interested in PJS. If I can be of any help to you, let me know. I am happy to do research, send messages to the group or make introductions. If you'd like to send me an update, please do, I'm happy to hear from you.

Sincerely,
Stephanie Sugars
pj4steph@aol.com
Peutz-Jeghers Syndrome
Mailing list manager & contact

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Update: 12.Dec.'03