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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: Clinica...

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Autores principales: Tchekmedyian, Asadur, Amos, Christopher I., Bale, Sherri J., Zhu, Dakai, Arold, Stefan, Berrueta, Joaquin, Nabon, Natalie, McGarrity, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834183/
https://www.ncbi.nlm.nih.gov/pubmed/24260271
http://dx.doi.org/10.1371/journal.pone.0079639
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author Tchekmedyian, Asadur
Amos, Christopher I.
Bale, Sherri J.
Zhu, Dakai
Arold, Stefan
Berrueta, Joaquin
Nabon, Natalie
McGarrity, Thomas
author_facet Tchekmedyian, Asadur
Amos, Christopher I.
Bale, Sherri J.
Zhu, Dakai
Arold, Stefan
Berrueta, Joaquin
Nabon, Natalie
McGarrity, Thomas
author_sort Tchekmedyian, Asadur
collection PubMed
description 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.
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spelling pubmed-38341832013-11-20 Findings from the Peutz-Jeghers Syndrome Registry of Uruguay Tchekmedyian, Asadur Amos, Christopher I. Bale, Sherri J. Zhu, Dakai Arold, Stefan Berrueta, Joaquin Nabon, Natalie McGarrity, Thomas PLoS One Research Article 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. Public Library of Science 2013-11-19 /pmc/articles/PMC3834183/ /pubmed/24260271 http://dx.doi.org/10.1371/journal.pone.0079639 Text en © 2013 Tchekmedyian et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Tchekmedyian, Asadur
Amos, Christopher I.
Bale, Sherri J.
Zhu, Dakai
Arold, Stefan
Berrueta, Joaquin
Nabon, Natalie
McGarrity, Thomas
Findings from the Peutz-Jeghers Syndrome Registry of Uruguay
title Findings from the Peutz-Jeghers Syndrome Registry of Uruguay
title_full Findings from the Peutz-Jeghers Syndrome Registry of Uruguay
title_fullStr Findings from the Peutz-Jeghers Syndrome Registry of Uruguay
title_full_unstemmed Findings from the Peutz-Jeghers Syndrome Registry of Uruguay
title_short Findings from the Peutz-Jeghers Syndrome Registry of Uruguay
title_sort findings from the peutz-jeghers syndrome registry of uruguay
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834183/
https://www.ncbi.nlm.nih.gov/pubmed/24260271
http://dx.doi.org/10.1371/journal.pone.0079639
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