Síndrome de Peutz-Jeghers. Presentación de un caso
Keywords:
síndrome de Peutz-Jeghers, poliposis intestinal, hamartomasAbstract
El Síndrome de Peutz-Jeghers es una enfermedad que se hereda con un patrón autosómico dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. Se estima que afecta alrededor de 1 de cada 25,000 a 300,000 nacimientos. Es causado por la mutación del gen STK11 (LKB1), es un gen supresor tumoral que se inactiva con la mutación, que se localiza en el cromosoma 19p. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es presentar el caso de un niño con características fenotípicas y antecedentes familiares de esta enfermedad.Downloads
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References
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10. Souza J, Faucz F, Sotomaior V, Filho AB, Rosenfeld J, Raskin S. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genet Mol Biol [Internet]. 2011 Oct [citado 23 Sep 2014]34(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22215957.
2. Sinagra E, Scalisi A, Santoro A, Giunta M, Rizzolo CA, Cottone M. Could growth hormone play a role in Peutz Jeghers syndrome?. Med Hypotheses. 2013;81(5):966-7.
3. Zheng B, Pan J, Wang Y, Li M, Lian M, Zheng Y, Jin Y. Analysis of STK11 gene variant in five Chinese patients with Peutz-Jeghers syndrome. Dig Dis Sci [Internet]. 2013 Oct; [citado 23 Sep 2014];58(10):2868-72. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23892522.
4. Orellana P, López-Köstner F, Heine C, Suazo C, Pinto E, Church J, et al. Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families. Clin Genet [Internet]. 2013 Abr [citado 23 Sep 2014];83(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22775437.
5. Turpin A, Cattan S, Leclerc J, Wacrenier A, Manouvrier-Hanu S, Buisine MP et al. Hereditary predisposition to cancers of the digestive tract, breast, gynecological and gonadal: Focus on the Peutz-Jeghers. Bull Cancer [Internet]. 2014 Jul [citado 23 Sep 2014]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25036236.
6. Torroni F, Romeo E, Rea F, Angelis PD, Foschia F, Faraci S, et al. Conservative approach in Peutz-Jeghers syndrome: Single-balloon enteroscopy and small bowel polypectomy. World J Gastrointest Endosc [Internet]. 2014 Jul [citado 23 Sep 2014];6(7). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25031791.
7. Liu W, Monahan KB, Pfefferle AD, Shimamura T, Sorrentino J, Chan KT, et al. LKB1/STK11 inactivation leads to expansion of a prometastatic tumor subpopulation in melanoma. Cancer Cell [Internet]. 2012 Jun [citado 23 Sep 2014]21(6):751-64. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22698401.
8. Martínez Amate E, Carreño González R, Jorge Cerrudo J, Esteban Carretero J. Coexistence of Peutz-Jeghers' syndrome and Lynch's syndrome in the same patient. Gastroenterol Hepatol [Internet]. 2012 Jun [citado 23 Sep 2014]35(6). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22516349.
9. Chen CY, Zhang XM, Wang FY, Wang ZK, Zhu M, Ma GJ, et al. Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi [Internet]. 2012 Apr; [citado 23 Sep 2014]29(2):121-5. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22487816.
10. Souza J, Faucz F, Sotomaior V, Filho AB, Rosenfeld J, Raskin S. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genet Mol Biol [Internet]. 2011 Oct [citado 23 Sep 2014]34(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22215957.
Published
2015-03-13
How to Cite
1.
Santana Hernández EE, Tamayo Chang VJ, Llaurado Robles A, González Anta AM, Warner Vigo O. Síndrome de Peutz-Jeghers. Presentación de un caso. Medimay [Internet]. 2015 Mar. 13 [cited 2024 Dec. 22];21(1):130-5. Available from: https://medimay.sld.cu/index.php/rcmh/article/view/735
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