The PJS gene and multiple sclerosis
Please don’t worry about getting multiple sclerosis (MS) because you have PJS!
Please read on if you're interested in the research linking the PJS gene (STK11) to MS.
I first posted this to the PJS Online Support Group in May 2001 and updated it in 2014. There are two addenda - first is my correspondence with Dr. Stratakis of the NIH, the second from 2014 is a list of five abstracts about PJS & thyroid cancer. - healing wishes, Stephanie
Dear PJS friends; This report is on the PJS/thyroid connection. For our newcomers, I've written several pieces on PJS from a patient's view. Some topics include: sex cord tumors, bowel preparations, a review of the article Very High Risk of Cancer in Familial PJS, (7) , etc. Please remember these pieces are not medical advice, but reviews of the literature that you can take to your doctor. Some of you may want to have your thyroids screened, others with thyroid troubles may be surprised by the PJS connection. This topic was introduced in 2000 by two group members, who both visited Dr. Stratakis at the NIH in Bethesda, Maryland. Dr. Stratakis is an endocrinologist who works primarily on Carney Complex. His study (1) is open to people with PJS. One member wrote her thyroid tumors were found during her study participation. The other member wrote to us on September 4, 2000:
"The doctor gave me a couple of his articles. His latest, from 'Frontiers in Bioscience', discusses the overlap between disorders associated with multiple tumors and pigmentation defects. Among the non- GI neoplasms associated with PJ, endocrine tumors including thyroid cancer and ovarian and Sertoli cell tumors are the most frequent. My surgeon at home was unaware of any thyroid association with PJ. When I needed bloodwork for my surgery in May, I asked to get my thyroid level checked. All came back normal. But, Dr. Stratakis told me that it is not sufficient to just get bloodwork. You also need a thyroid ultrasound. He said that there is an especially aggressive form of thyroid cancer associated with PJ." The full article from Frontiers in Bioscience is available online. (2)
Síndrome de Peutz-Jeghers
Findings from the peutz-jeghers syndrome registry of uruguay. Tchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, Berrueta J, Nabon N, McGarrity T. Gastroenterology, Pasteur Hospital, Ministry of Public Health, Montevideo, Uruguay. PLoS One. 2013 Nov 19;8(11):e79639. doi: 10.1371/journal.pone.0079639.