Findings from the Peutz-Jeghers Syndrome Registry of Uruguay

Background: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. Methods: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. Results and discussion: 25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. Conclusion: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation

Sequence data and chromatographs for the mutation M136K from patient # 22.

<p>Sequence data and chromatographs for the mutation M136K from patient # 22.</p

Clinical Characteristics and STK 11 Mutation Status.

<p><b>Age of Living Patients (Year 2009)</b>.</p

A schematic of the structure of STK11 and novel M136K mutation detected in family 9, patient 22.

<p>A schematic of the structure of STK11 and novel M136K mutation detected in family 9, patient 22.</p

Characteristic peri-oral melanotic pigmentation more pronounced on the lower lip.

<p>Characteristic peri-oral melanotic pigmentation more pronounced on the lower lip.</p

MLPA data shows small intragenic deletion in STK11 gene for patient # 3.

<p>MLPA data shows small intragenic deletion in STK11 gene for patient # 3.</p