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) The news of potential thyroid cancer & screening for people with PJS was particularly startling since none of the screening guidelines from other doctors include the thyroid. (3) I read Dr. Stratakis' article which included the following quote, "Among the nongastrointestinal neoplasms associated with PJS, endocrine tumors including thyroid cancer and ovarian and Sertoli cell tumors are the most frequent." He referenced three articles (4-6), but when I read the articles, I found only one mention of thyroid cancer or tumors. My correspondence with Dr. Stratakis of the NIH follows in addendum I. Dr. Giardiello in his article, Very High Risk of Cancer In Familial PJS, (7) showed no increased risk of thyroid cancer in PJS and doesn't even include it in his tables. I have to wonder what Dr. Stratakis knows that we don't know. If he sees an increased risk for thyroid cancer, it might be as a result of his studies or one-to-one communications with other doctors. Now that I have a large collection of PJS articles, I combed them for reports of thyroid tumors, malignant & benign, in people with PJS. You will see from my table, that there are reports of thyroid tumors in PJS folks. The most common type of thyroid cancer in PJS folks and the general population is papillary carcinoma. A search at Cancer Net revealed that thyroid papillary adenocarcinoma is a differentiated cancer that is highly treatable and curable. (14) So Dr. Stratakis' comment on an aggressive thyroid cancer associated with PJS isn't substantiated from my readings of the literature. (Please see the addenda below for more up-to-date details). Though I did find cases of PJS folks with thyroid problems, but I have no idea if these findings are significant. Since thyroid problems are fairly common in the general population, there may not be a connection to PJS. Hopefully time and further investigations will tell whether there's a PJS/thyroid connection. Warmest regards to all, Stephanie Sugars email@example.com Peutz-Jeghers syndrome Mailing list manager & contact TABLE: Author, publication date, reference patient gender & age diagnosis Spigelman, 1989 , (6) f30 thyroid cancer Burdick & Prior, 1981, (8) f61 thyroid colloid nodule & Hashimoto's thyroiditis Yamamoto M, 1992, (9) f29 Thyroid papillary adenocarcinoma Reed MW, 1990, (10) papillary carcinoma of the thyroid. Boardman LA, 1998 (11) 33 Thryoid cancer Srivatsa, PJ, 1994 (12) f91 Grade 1 metastatic papillary cystic adenocarcinoma of thyroid with squamous metaplasia 2 months after first operation (patient was 91 years old and in good health at time of article) Srivatsa, PJ, 1994 (12) f21 Graves' disease, subtotal thyroidectomy Srivatsa, PJ, 1994 (12) f40 Adenomatous Goiter Srivatsa, PJ, 1994 (12) f32 Colloid adenoma of thyroid with small area of papillary carcinoma Dormandy, TL, 1957 (13) f60 nodular goiter Dormandy, TL, 1957 (13) m 52 nodular goiter References: (1) Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease and its Associated Conditions (Carney Complex) Study # 95-CH-0059. 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 (2) From Genetics of Carney Complex and Related Familial Lentiginoses and Other Multiple Tumor Syndromes By Contsantine A. Stratakis http://www.bioscience.org/2000/v5/d/stratak/fulltext.htm (3) Please search our archives for screening guidelines. (4) Giardiello, F. M.; Welsh, S. B.; Hamilton, S. R.; Offerhaus, G. J. A.; Gittelsohn, A. M.; Booker, S. V.; Krush, A. J.; Yardley, J. H.; Luk, G. D. :
Increased risk of cancer in the Peutz-Jeghers syndrome.
New Eng. J. Med. 316: 1511-1514, 1987. PubMed ID : 3587280 (5) Hizawa, K.Iida, M., Matsumoto, T., Kohrogi, N., H. Kinoshita & T. Yao:
Cancer in Peutz-Jeghers Syndrome.
Cancer November 1, 1993, Volume 72, No. 9. (6) Spigelman, A. D.; Murday, V.; Phillips, R. K. S. :
Cancer and the Peutz-Jeghers syndrome.
Gut 30: 1588-1590, 1989. PubMed ID : 2599445 (7) Giardiello, Francis, et al.:
Very High Risk of Cancer in Familial Peutz-Jeghers Syndrome. Gastroenterology 2000;119:1447-1453. 8) Burdick, D.; Prior, J. T. :
Peutz-Jeghers syndrome: a clinicopathologic study of a large family with a 27-year follow-up.
Cancer 50: 2139-2146, 1982. PubMed ID : 7127254 (9) Yamamoto M, Hoshino H, Onizuka T, Ichikawa M, Kawakubo A, Hayakawa S.: Thyroid papillary adenocarcinoma in a woman with Peutz-Jeghers syndrome. Intern Med 1992 Sep;31(9):1117-9 PMID: 1421720 (10) Reed MW, Harris SC, Quayle AR, Talbot CH.:
The association between thyroid neoplasia and intestinal polyps.
Ann R Coll Surg Engl 1990 Nov;72(6):357-9 Department of Surgery, Royal Hallamshire Hospital, Sheffield. PMID: 2241052 (11) Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, Ahlquist DA, Podratz KC, Pittelkow M, Hartmann LC:
Increased risk for cancer in patients with the Peutz-Jeghers syndrome.
Ann Intern Med. 1998 Jun 1;128(11):896-9. PMID: 9634427 (12) Srivatsa, PJ et al.:
Disseminated Cervical Adenoma Malignum and Bilateral Ovarian Sex Cord Tumors with Annular Tubules Associated with Peutz-Jeghers syndrome.
Gynecological Oncology 53, 256-264 (1994).
(13) Dormandy, Thomas L.: G
astrointestinal Polyposis with Mucocutaneous Pigmentation (Peutz-Jeghers syndrome). New England Journal of Medicine, 1957 June 13; 1141-1146. (14) Cancernet for Thyroid Cancer, http://cancernet.nci.nih.gov/pdqsrch.shtml
2002 - from Dr. Stratakis of the NIH
Monday, October 27, 2014
Peutz-Jeghers syndrome and thyroid problems - benign and malignant
Posted by Stephanie Sugars at 3:52 PM