caa a22 4500 445330791 CHVBK 20180317142736.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10689-011-9438-x doi (NATIONALLICENCE)springer-10.1007/s10689-011-9438-x Case studies in the diagnosis and management of Peutz-Jeghers syndrome [Elektronische Daten] [Douglas Riegert-Johnson, Maegan Roberts, Ferga Gleeson, Murli Krishna, Lisa Boardman] Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by melanotic macules, gastrointestinal polyps and increased cancer risks. We discuss several common scenarios encountered in the diagnosis and management of PJS patients. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org, stk11.com websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible. However, EUS is limited by variability and false positive results. Female patients with PJS are at risk for two rare cancers that require regular surveillance, adenoma malignum and ovarian sex cord tumors with annular tubules. Springer Science+Business Media B.V., 2011 Peutz-Jeghers syndrome nationallicence Pancreatic cancer nationallicence Adenoma malignum nationallicence Sex cord tumors nationallicence Magnetic resonance enterography nationallicence Riegert-Johnson Douglas Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA aut Roberts Maegan Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA aut Gleeson Ferga Mayo Clinic, Rochester, MN, USA aut Krishna Murli Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA aut Boardman Lisa Mayo Clinic, Rochester, MN, USA aut Familial Cancer Springer Netherlands 10/3(2011-09-01), 463-468 1389-9600 10:3<463 2011 10 10689 https://doi.org/10.1007/s10689-011-9438-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9438-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Riegert-Johnson Douglas Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA aut NATIONALLICENCE 700 1- Roberts Maegan Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA aut NATIONALLICENCE 700 1- Gleeson Ferga Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 700 1- Krishna Murli Mayo Clinic, 4500 San Pablo Road, 32224, Jacksonville, FL, USA aut NATIONALLICENCE 700 1- Boardman Lisa Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/3(2011-09-01), 463-468 1389-9600 10:3<463 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer