Showing posts with label Peutz-Jeghers Syndrome. Show all posts
Showing posts with label Peutz-Jeghers Syndrome. Show all posts
Monday, March 12, 2012
Wednesday, January 11, 2012
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.........."
add your opinions
genetics
,
Peutz-Jeghers Syndrome
,
PJS
open access: Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome (2006)
Blogger's Note: 1 of 2 articles
".....Peutz-Jeghers syndrome (MIM:175200; ref. 1) is an autosomal dominantly inherited syndrome characterized by mucocutaneous pigmentation and gastrointestinal polyposis (2). In addition to an elevated risk of gastrointestinal cancers, an increased risk of cancers at other sites, such as breast, ovary, uterus, cervix, lung, and testis, has been described (3–7). Rare tumors have also been attributed to Peutz-Jeghers syndrome, including testicular sex cord and Sertoli cell tumors, leading to sexual precocity and gynecomastia (8–10), ovarian sex cord tumors with annular tubules, and adenoma malignum of the cervix (1, 2, 11, 12)"
add your opinions
Peutz-Jeghers Syndrome
Sunday, April 24, 2011
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.
add your opinions
ovarian sex cord tumor
,
Peutz-Jeghers Syndrome
,
PJS
Sunday, March 20, 2011
Genetics of Breast and Ovarian Cancer (PDQ®) - NCI - rare syndrome (LFS, Cowden, PJS)
Other Rare Breast and Ovarian Cancer-Associated Syndromes
Li-Fraumeni syndrome
Cowden syndrome
Peutz-Jeghers syndrome
add your opinions
Cowden Syndrome
,
Li-Fraumeni syndrome
,
Peutz-Jeghers Syndrome
,
rare genetic syndromes
Monday, February 07, 2011
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)...."
add your opinions
Peutz-Jeghers Syndrome
,
PJS
Friday, December 31, 2010
Correspondence: mTOR Inhibitor Treatment of Pancreatic Cancer in a Patient With Peutz-Jeghers Syndrome
TO THE EDITOR:
"Recently, we successfully used everolimus to
achieve a partial remission in a patient with advanced pancreatic
cancer that was induced by Peutz-Jeghers syndrome (PJS). PJS has
been associated with an increased risk of GI, gynecologic, breast, and
pancreatic cancers. PJS is caused by a tumor-suppressor gene mutation
in the serine threonine kinase gene 11 (STK11, also known as
LKB1 gene), localized on chromosome 19p13.3.1,2 Up to 93% of
patients with PJS develop some form of cancer; 11% to 36% develop
pancreatic carcinoma.3,4......"
add your opinions
Peutz-Jeghers Syndrome
Sunday, March 07, 2010
Peutz-Jeghers syndrome with breast cancer/gyn cancer...
A case of Peutz-Jeghers syndrome with breast cancer, bilateral sex cord tumor with annular tubules, and adenoma malignum caused by STK11 gene mutation.
Clements A, Robison K, Granai C, Steinhoff MM, Scalia-Wilbur J, Moore RG.
Program in Women's Oncology, Department of Obstetrics and Gynecology, Women and Infants Hospital, Brown University, Providence, RI, USA.
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and women with this syndrome are at an increased risk of developing intestinal and extraintestinal malignancies including breast and gynecologic malignancies. This case report presents a patient with PJS with a concomitant breast cancer, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.
add your opinions
breast
,
gynaecologic cancers
,
ovarian
,
Peutz-Jeghers Syndrome
Subscribe to:
Posts
(
Atom
)