Dear PJS friends,

Happy May Day 2002. The Peutz-Jeghers syndrome online support group celebrated its second anniversary on April 22, 2002. I've learned much about PJS during the past two years and have come to see that the condition affects different people differently, that people's needs & lives change over time and that we have a variety of methods for living with PJS. I can't give you specifics here since the stories shared are confidential and copyrighted. You are welcome to join or rejoin the group at www.acor.org, click on mailing lists, click on PJS. Follow instructions to subscribe. Once subscribed, you can write to others and use the archives. If mail volume is a problem for you, choose to subscribe digest mode or even nomail.

What I can share are recent developments related to PJS that might interest you. If you haven't seen a physician for a few years, you might be surprised to learn of new screening guidelines for PJS folks. Guidelines vary by physician and patient but a typical guideline probably suggests: upper and lower endoscopy and barium follow-through x-rays every 2-3 years after age 10; endoscopic ultrasound (if available) or abdominal ultrasound of pancreas every 1-2 years after age 30. For males - testicular exam yearly after age 10. For females - breast exam yearly and mammography every 2-3 years after age 25 and pelvic examination and pelvic ultrasound annually after age 20. For more details visit GeneReviews PJS entry at http://www.geneclinics.org/

Also, Dr. Stratakis of the NIH in USA recommends "that a thyroid ultrasound be performed at the initial diagnostic evaluation of a patient with PJS; follow-up studies may be obtained as necessary. Biochemical studies (blood thyroid function tests) do not substitute ultrasound, because these small nodules are nonfunctional." -private correspondence.

The news of very high risk of cancer in familial PJS has filtered into many journal articles, textbook chapters and Internet sites. If you've not visited a physician in a while you might be surprised to hear more talk of cancer risk than of spots and polyps. If you'd like more intensive cancer screening than you've previously received, you might want to bring information from the following sites to your physician. Many are written by experts and their advice might be followed by physicians and health insurance companies.

Some sites you might want to visit and bookmark:

A PJS online support group member has created a PJS site. Contact Karen at info@peutz-jeghers.com.
hccregistry@jhmi.edu
www.macgn.org/PDF/pjs.pdf

The Office of Rare Diseases through the Genetic and Rare Disease Information Center provides information packets on PJS and other conditions.
Voice 1-888-205-2311. TTY 1-888-205-3223.
E-mail: GARDinfo@nih.gov . Fax (202) 966-5689, available 24-hours-a-day.
http://rarediseases.info.nih.gov/index.html

The new MEDLINEplus PJS entry is especially for patients & family.
http://www.nlm.nih.gov/medlineplus/ency/article/000244.htm

Who Named It? The story of how PJS got its name.
http://www.whonamedit.com/synd.cfm/1106.html

Cancer.gov has many interesting articles on cancer genetics. PJS is mentioned in both Genetics of Colorectal Cancer and Genetics of Breast and Ovarian Cancer. Search for cancer genetics, click on the cancer genetics link.
http://www.cancer.gov/

You can search PubMed for journal articles & abstracts on PJS and other topics and access the fifth edition of Cancer Medicine. Let me know if you want instructions for using it & I'll send them.
http://www.ncbi.nlm.nih.gov/PubMed/

Like the GeneReview article quoted in the screening section above, this is written for physicians.
http://www.emedicine.com/med/topic1807.htm

The OMIM (Online Mendelian Inheritance in Man) PJS entry. Technical, but good for physicians too. Be sure to follow interesting links.
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?175200 .

If you are doing your own online medical searching, you might be interested in this article, DocTom's Top Tips for Online Health Searching.
http://www.fergusonreport.com/articles/fr00804.htm

Studies that might interest you are:

Until May 31, 2002, a quality of life study for people with PJS and polyposis syndromes by Dr. Thomas McGarrity of Hershey Medical Center. To obtain questionnaires contact him at tmcgarrity@PSU.EDU .

Peutz-Jeghers Syndrome Home page has information on MD Anderson's PJS study & list of clinicians interested in PJS.
http://www.epigenetic.org/~pjs/homepage.html

A study to screen patients with PJS for early cancer or precancerous changes in the pancreas at Johns Hopkins Medicine in Baltimore, MD. For more information, contact study coordinator, Lori Wroblewski, R.N. at 410-955-3821.

Dr. Stratakis at National Institute of Health in Bethesda, Maryland. The study includes a complete physical examination with genetic testing. Contact Meg Keil at 301-496-4686.
http://clinicalstudies.info.nih.gov/detail/A_95-CH-0059.html .

St. Mark's in London has both PJS studies and a registry.
http://www.polyposisregistry.org.uk/Default.asp

In Australia, the Hereditary Bowel Cancer Registers has resources for people with PJS.
Contact Julia Thompson at juliat@nswcc.org.au
Tel: 02 9334 1817
Fax: 02 9356 2130
www.nswcc.org.au

If you'd like to join a registry, you can find a list of them at Inherited Colorectal Cancer Registries at http://www.fascrs.org/. For more information on registries, see the HCCA June 2000 newsletter,
http://www.hereditarycc.org/

And a study of people who don't join registries is being done through Johns Hopkins. Contact Gail Geller (Co-Principal Investigator) or Barbara Bernhardt at 410-955-7894.

If you'd like genetic testing outside of a study these two labs are now performing it: Ohio State University laboratory is performing PJS genetic testing for under $1000.
Contact Robert Pilarski, M.S, CGC at 614-293-7774 or pilarski-1@medctr.osu.edu

And GeneDx, a lab in Rockville, MD, for about $1400.
http://www.genedx.com/services.html#PJS
Editor's Note: This link has been changed to http://www.genedx.com/services/dis_pjs.php . The above link is no longer active.

To find a genetic counselor to talk with before undergoing testing:
Cancer Genetics Services Directory
http://www.cancer.gov/search/genetics_services/

GeneClinics directories for USA and international genetics counselors
www.geneclinics.org

National Society of Genetic Counselors, Inc.
http://www.nsgc.org/index.asp

Hereditary Colon Cancer Association is a support/information organization which publishes a newsletter & has an annual conference.
http://www.hereditarycc.org/

The Given Imaging capsule continues to make news throughout the world. Last week their capsule, which takes photos of the small intestine over an eight hour period, was featured on the 20/20 news program. You can read more about it at Capsule Endoscopy (http://www.givenimaging.com/). Use their physician locater to find who's using it in your area.

You are welcome to share this e-mail with friends, family members and physicians. If I can be of any help to you or your family, 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