Peutz-jeghers syndrome and colon cancer in a 10-year-old girl: implications for when and how to start screening?
作者： Surachai Saranrittichai
DOI:
关键词: Mucocutaneous zone 、 Short bowel syndrome 、 Cancer 、 Perforation (oil well) 、 Gastroenterology 、 Medicine 、 Hamartomatous polyposis 、 Peutz–Jeghers syndrome 、 Intussusception (medical disorder) 、 Internal medicine 、 Colorectal cancer
摘要: The Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous polyposis of the gastro-intestinal (GI) tract, with mucocutaneous pigmentation. We have experienced a case 10-year-old girl who presented PJS, intussusception, colonic perforation and adenocarcinoma. Finally, this developed airway obstruction from mediastinal mass. In order to prevent cancer short bowel syndrome, aggressive screening recommended.
参考文章(14)
R. Hinds, C. Philp, W. Hyer, J. M. Fell, Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. Journal of Pediatric Gastroenterology and Nutrition. ,vol. 39, pp. 219- 220 ,(2004) , 10.1097/00005176-200408000-00027
Thomas J. McGarrity, Howard E. Kulin, Richard J. Zaino, Peutz-Jeghers syndrome The American Journal of Gastroenterology. ,vol. 95, pp. 596- 604 ,(2000) , 10.1111/J.1572-0241.2000.01831.X
Lisa A. Boardman, Fergus J. Couch, Lawrence J. Burgart, David Schwartz, Rebecca Berry, Shannon K. McDonnell, Daniel J. Schaid, Lynn C. Hartmann, Jennifer J. Schroeder, Constantine A. Stratakis, Stephen N. Thibodeau, Genetic heterogeneity in Peutz‐Jeghers syndrome Human Mutation. ,vol. 16, pp. 23- 30 ,(2000) , 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M
A D Spigelman, V Murday, R K Phillips, Cancer and the Peutz-Jeghers syndrome. Gut. ,vol. 30, pp. 1588- 1590 ,(1989) , 10.1136/GUT.30.11.1588
M.J. Fernandez Seara, M.I. Martinez Soto, J.R. Fernandez Lorenzo, S. Trabazo, E. Gamborino, J. Forteza Vila, Peutz-Jeghers syndrome in a neonate The Journal of Pediatrics. ,vol. 126, pp. 965- 967 ,(1995) , 10.1016/S0022-3476(95)70224-5
Debrah A. Wirtzfeld, Miguel A. Rodriguez-Bigas, Nicholas J. Petrelli, Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Annals of Surgical Oncology. ,vol. 8, pp. 319- 327 ,(2001) , 10.1245/ASO.2001.8.4.319
Sebuh Kurugoglu, Hilmi Aksoy, Fatih Kantarci, Serap Cetinkaya, Ismail Mihmanli, Ugur Korman, Radiological work-up in Peutz-Jeghers syndrome. Pediatric Radiology. ,vol. 33, pp. 766- 771 ,(2003) , 10.1007/S00247-003-1031-5
CI Amos, MB Keitheri-Cheteri, M Sabripour, C Wei, TJ McGarrity, MF Seldin, L Nations, PM Lynch, HH Fidder, E Friedman, ML Frazier, Genotype–phenotype correlations in Peutz-Jeghers syndrome Journal of Medical Genetics. ,vol. 41, pp. 327- 333 ,(2004) , 10.1136/JMG.2003.010900
Francis M. Giardiello, Jill D. Brensinger, Anne C. Tersmette, Steven N. Goodman, Gloria M. Petersen, Susan V. Booker, Marcia Cruz–Correa, Johan A. Offerhaus, Very High Risk of Cancer in Familial Peutz—Jeghers Syndrome Gastroenterology. ,vol. 119, pp. 1447- 1453 ,(2000) , 10.1053/GAST.2000.20228
Wendy Lim, Sylviane Olschwang, Josbert J Keller, Anne Marie Westerman, Fred H Menko, Lisa A Boardman, Rodney J Scott, Jill Trimbath, Francis M Giardiello, Stephen B Gruber, Johan JP Gille, G Johan A Offerhaus, Felix WM De Rooij, JH Paul Wilson, Allan D Spigelman, Robin KS Phillips, Richard S Houlston, Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology. ,vol. 126, pp. 1788- 1794 ,(2004) , 10.1053/J.GASTRO.2004.03.014