TY - JOUR
T1 - Findings from the Peutz-Jeghers syndrome registry of Uruguay
AU - Tchekmedyian, Asadur
AU - Amos, Christopher I.
AU - Bale, Sherri J.
AU - Zhu, Dakai
AU - Arold, Stefan T.
AU - Berrueta, Joaquin
AU - Nabon, Natalie
AU - McGarrity, Thomas
N1 - KAUST Repository Item: Exported on 2020-10-01
PY - 2013/11/19
Y1 - 2013/11/19
N2 - 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. © 2013 Tchekmedyian et al.
AB - 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. © 2013 Tchekmedyian et al.
UR - http://hdl.handle.net/10754/325328
UR - https://dx.plos.org/10.1371/journal.pone.0079639
UR - http://www.scopus.com/inward/record.url?scp=84896694378&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0079639
DO - 10.1371/journal.pone.0079639
M3 - Article
C2 - 24260271
SN - 1932-6203
VL - 8
SP - e79639
JO - PLoS ONE
JF - PLoS ONE
IS - 11
ER -
