Peutz-Jeghers syndrome: a new understanding.

نویسندگان

  • H. S. Choi
  • Y. J. Park
  • J. G. Park
چکیده

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction and bleeding. Furthermore, repeated operations may be needed in some patients, which may result in short bowel syndrome. Although early reports did not demonstrate a predisposition to cancer in patients with this syndrome, more recent studies have described an increased risk for both gastrointestinal and extra-gastrointestinal cancers. Women with the Peutz-Jeghers syndrome have the extremely high risk for breast and gynecologic cancer. Recently, Peutz-Jeghers syndrome susceptibility gene, encoding the serine threonine kinase STK11 (also called LKB1), was identified in families with Peutz-Jeghers syndrome. The identifications of germline mutations in families with Peutz-Jeghers syndrome could be a turning point in the management of Peutz-Jeghers syndrome.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Peutz - Jeghers syndrome associated with gastrointestinal carcinoma

Patients with the Peutz-Jeghers syndrome carry a slight, though definite, increased risk of gastrointestinal carcinoma.The malignant potentiality of Peutz-Jeghers hamartomatous polyps, generally considered benign, is supported by this report. Two cases of metastasising gastrointestinal carcinoma associated with the Peutz-Jeghers syndrome are described in a 56 year old female and her 29 year old...

متن کامل

Peutz-Jeghers syndrome and metastasising colonic adenocarcinoma.

A case of metastasising colonic carcinoma associated with Peutz-Jeghers syndrome in a 39 year old man is described. The caecal adenocarcinoma had metastasised widely to regional lymph nodes and was associated with several other colonic Peutz-Jeghers polyps, showing no evidence of dysplasia or malignancy. It was not possible to determine whether the carcinoma had arisen from a Peutz-Jeghers poly...

متن کامل

Sporadic Case of Peutz-Jeghers Polyp in a 14-Year Boy.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips, the buccal mucosa, and anal area. Patients have a strong family history. Patients of PJS present with abdominal pain, blood in stools, and occasionally melena because of polyps, along with classical mucocutaneous pigmentation. Very rarely a sporadic case of...

متن کامل

Jejunoduodenal intussusception caused by a solitary polyp in a woman with Peutz-Jeghers syndrome: a case report

INTRODUCTION Peutz-Jeghers syndrome is a rare autosomal dominant disorder characterized by hamartomatous polyps and characteristic mucocutaneous pigmentation. The hamartomatous polyps of Peutz-Jeghers syndrome can cause intestinal occlusion, especially in the small intestine. Intussusception is seen frequently in children, but rarely in adults. CASE PRESENTATION We present the case of a 21-ye...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of Korean Medical Science

دوره 14  شماره 

صفحات  -

تاریخ انتشار 1999