Findings from the Peutz-Jeghers syndrome registry of Uruguay

Handle URI:
http://hdl.handle.net/10754/325328
Title:
Findings from the Peutz-Jeghers syndrome registry of Uruguay
Authors:
Tchekmedyian, Asadur; Amos, Christopher I.; Bale, Sherri J.; Zhu, Dakai; Arold, Stefan T. ( 0000-0001-5278-0668 ) ; Berrueta, Joaquin; Nabon, Natalie; McGarrity, Thomas
Abstract:
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.
KAUST Department:
Biological and Environmental Sciences and Engineering (BESE) Division; Computational Bioscience Research Center (CBRC)
Citation:
Tchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, et al. (2013) Findings from the Peutz-Jeghers Syndrome Registry of Uruguay. PLoS ONE 8: e79639. doi:10.1371/journal.pone.0079639.
Publisher:
Public Library of Science (PLoS)
Journal:
PLoS ONE
Issue Date:
19-Nov-2013
DOI:
10.1371/journal.pone.0079639
PubMed ID:
24260271
PubMed Central ID:
PMC3834183
Type:
Article
ISSN:
19326203
Appears in Collections:
Articles; Computational Bioscience Research Center (CBRC); Biological and Environmental Sciences and Engineering (BESE) Division

Full metadata record

DC FieldValue Language
dc.contributor.authorTchekmedyian, Asaduren
dc.contributor.authorAmos, Christopher I.en
dc.contributor.authorBale, Sherri J.en
dc.contributor.authorZhu, Dakaien
dc.contributor.authorArold, Stefan T.en
dc.contributor.authorBerrueta, Joaquinen
dc.contributor.authorNabon, Natalieen
dc.contributor.authorMcGarrity, Thomasen
dc.date.accessioned2014-08-27T09:47:11Zen
dc.date.available2014-08-27T09:47:11Zen
dc.date.issued2013-11-19en
dc.identifier.citationTchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, et al. (2013) Findings from the Peutz-Jeghers Syndrome Registry of Uruguay. PLoS ONE 8: e79639. doi:10.1371/journal.pone.0079639.en
dc.identifier.issn19326203en
dc.identifier.pmid24260271en
dc.identifier.doi10.1371/journal.pone.0079639en
dc.identifier.urihttp://hdl.handle.net/10754/325328en
dc.description.abstractBackground: 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.en
dc.language.isoenen
dc.publisherPublic Library of Science (PLoS)en
dc.rightsThis is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.en
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/en
dc.subjectadolescenten
dc.subjectadulten
dc.subjectageen
dc.subjectageden
dc.subjectamino acid substitutionen
dc.subjectbreast canceren
dc.subjectcalcificationen
dc.subjectcancer mortalityen
dc.subjectcause of deathen
dc.subjectchilden
dc.subjectclinical articleen
dc.subjectclinical studyen
dc.subjectcolon polypen
dc.subjectcolonoscopyen
dc.subjectcontrolled studyen
dc.subjectexonen
dc.subjectgastrointestinal hamartomaen
dc.subjectgastrointestinal polyposisen
dc.subjectgeneen
dc.subjectgene deletionen
dc.subjectgene sequenceen
dc.subjectgene structureen
dc.subjectgenetic associationen
dc.subjectgeneticsen
dc.subjecthamartomaen
dc.subjecthistopathologyen
dc.subjectincidenceen
dc.subjectintestine canceren
dc.subjectintestine intussusceptionen
dc.subjectintestine obstructionen
dc.subjectintestine surgeryen
dc.subjectiron deficiency anemiaen
dc.subjectkidney canceren
dc.subjectleg diseaseen
dc.subjectleg fibrosarcomaen
dc.subjectlive birthen
dc.subjectlung canceren
dc.subjectmalignant neoplastic diseaseen
dc.subjectmissense mutationen
dc.subjectmortalityen
dc.subjectPeutz Jeghers syndromeen
dc.subjectpigmentationen
dc.subjectpostoperative complicationen
dc.subjectprivate hospitalen
dc.subjectpublic hospitalen
dc.subjectrectum canceren
dc.subjectschool childen
dc.subjectseizureen
dc.subjectsex ratioen
dc.subjectSK11 geneen
dc.subjecttestis diseaseen
dc.subjectthyroid canceren
dc.titleFindings from the Peutz-Jeghers syndrome registry of Uruguayen
dc.typeArticleen
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Divisionen
dc.contributor.departmentComputational Bioscience Research Center (CBRC)en
dc.identifier.journalPLoS ONEen
dc.identifier.pmcidPMC3834183en
dc.eprint.versionPublisher's Version/PDFen
dc.contributor.institutionGastroenterology, Pasteur Hospital, Ministry of Public Health, Montevideo, Uruguayen
dc.contributor.institutionDepartment of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, NH, United Statesen
dc.contributor.institutionGeneDx, Gaithersburg, MD, United Statesen
dc.contributor.institutionDepartment of Biochemistry and Molecular Biology, Center for Biomolecular Structure and Function, University of Texas, Houston, TX, United Statesen
dc.contributor.institutionDepartment of Gastroenterology, National School of Medicine, Universidad de la Republica, Montevideo, Uruguayen
dc.contributor.institutionDepartment of Medicine, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey, PA, United Statesen
dc.contributor.affiliationKing Abdullah University of Science and Technology (KAUST)en
kaust.authorArold, Stefan T.en

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