Incidence of Thyroid Abnormalities in Peutz-Jeghers Syndrome

Dear PJS friends,

Many of us have reported thyroid abnormalities, including thyroid cancer, yet we’ve been offered no recommended thyroid screening guidelines. My earlier report is here http://peutz-jeghersnews.blogspot.com/2014/10/peutz-jeghers-syndrome-and-thyroid.html

Dr. Stratakis and other researchers at the USA NIH – http://clinicalstudies.info.nih.gov/detail/A_95-CH-0059.html – have included PJS patients in their larger clinical study of those with familial lentiginosis syndromes.

The following report is about their 19 PJS patients (3 females, 16 males) who were evaluated for thyroid abnormalities by ultrasound. 14 or 73.7% had abnormalities. “hypoechoic regions (7), nodules (5), cysts (4), regions of inhomogenous tissue (1), hyperechoic regions (1), and calcifications (1).”

This is considerably higher than the rate of thyroid abnormalities in the general population and the authors suggest, “If thyroid abnormalities are, in fact, more prevalent in individuals with PJS than in the healthy population, appropriate screening and management could prevent progression to overt disease in affected patients.”

There is no mention of follow-up on these 14 affected patients, nor clearcut guidance for patients or practitioners, but this news might be worth sharing with your practitioners, if you are planning a screening program.

Warmest wishes,

Stephanie

Endocrine Society's 97th Annual Meeting and Expo, March 5–8, 2015 - San Diego

FRI-042: Incidence of Thyroid Abnormalities in Peutz-Jeghers Syndrome

Catherine Jameson1, Charalampos Lyssikatos2, Thomas H Shawker3, Maya Beth Lodish4 and Constantine A Stratakis2

    1NICHD,

    2National Institutes of Health (NIH), Bethesda, MD

    3National Institutes of Health,

    4National Institutes of Health, Bethesda, MD

Presentation Number: FRI-042

Date of Presentation: March 6, 2015

    Abstract

Abstract:

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant intestinal polyposis syndrome associated with an increased risk of developing malignancies in the breast, colon, pancreas, stomach, and ovary.

Little research has been done into the relationship between thyroid abnormalities, thyroid cancer, and PJS; as of 2011, six cases of thyroid cancer had been reported in individuals with PJS (1).

While a definitive connection between thyroid cancer and PJS has not yet been found, DTC is known to occur with a higher incidence in patients with other intestinal polyposis syndromes, including familial adenomatous polyposis and Cowden’s Syndrome.

We retrospectively reviewed the medical records of 19 patients with confirmed PJS who had been seen at the National Institutes of Health (NIH), 3 F, 16 M, mean age at first evaluation 19.3 ± 13.3 years.

A single radiologist reviewed all thyroid ultrasounds. The chi-squared test was used to compare the observed prevalence of thyroid abnormalities in the PJS cohort compared to what would be expected given population estimates.

Six patients had multiple ultrasounds performed, median length of follow up was 7 years, range 2-9.

Twelve had a confirmed STK11/LKB1 mutation.

Fourteen out of 19 individuals with PJS had a thyroid abnormality on at least one ultrasound. Thyroid abnormalities included hypoechoic regions (7), nodules (5), cysts (4), regions of inhomogenous tissue (1), hyperechoic regions (1), and calcifications (1).

In comparison to a generous population estimate of the prevalence of incidental ultrasonographic thyroid findings of 35.6% (2), the prevalence of 73.7% among our cohort is significantly higher (p=0.0006).

Current screening recommendations for PJS do not include thyroid surveillance, although thyroid carcinoma is sometimes part of the clinical picture of intestinal polyposis syndromes.

If thyroid abnormalities are, in fact, more prevalent in individuals with PJS than in the healthy population, appropriate screening and management could prevent progression to overt disease in affected patients.

(1) Triggiani V,et al., Thyroid 2011, 21:1273-1277. (2) Reiners C et al., Thyroid 2004;11:879-80

Nothing to Disclose: CJ, CL, THS, MBL, CAS

Sources of Research Support: This work was supported by the intramural program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development