OMICS Publishing Group | Full-text | Peutz-Jegher Syndrome in Gynecologic Pathology (PJS and ovarian cancer)

OMICS Publishing Group | Full-text | Peutz-Jegher Syndrome in Gynecologic Pathology

Blogger: Peutz-Jeghers (Syndrome) News: For those who want to learn much, much more about PJS

Access : Peutz Jeghers syndrome (PJS) and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis : European Journal of Human Genetics

"Peutz–Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study (median age of 44) was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy termination, and pre-implantation genetic diagnosis (PGD)......."

open access: Familial Cancer - Peutz-Jeghers syndrome (PJS) - genes LKB1/STK11

"The work of Peutz in 1921 [1] and Jeghers et al. in 1949 [2] led to the definition of the Peutz-Jeghers syndrome (PJS) at a clinical level. The main characteristics are autosomal dominant inheritance, lip pigmentations, gastro-intestinal polyposis and various types of cancer. The identification of the LKB1/STK11 gene in 1998 [3, 4] allowed DNA-based diagnosis of PJS and was the starting point for research into the role of LKB1 in molecular pathways.........."

abstract: Case studies in the diagnosis and management of Peutz-Jeghers Syndrome (PJS) (ovarian sex cord tumors)

Abstract

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.

Abstract: Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality

"Patients with Peutz-Jeghers syndrome (PJS) require lifelong multidisciplinary care for gastrointestinal polyposis and increased risk of cancer.

...The cause of death was unknown in 4 patients, but was due exclusively to malignancies in all other patients, most commonly due to metastatic gynecologic cancer (5)...."