The two main problems in the management of the gastrointestinal tract in patients with Peutz-Jeghers syndrome (PJS) are the long term cancer risk and managing polyp related complications, such as intussusception and bleeding. In this article we will focus mainly on the clinical management of these problems. We will highlight some of the controversies regarding gastrointestinal PJS polyps, cancer development and cancer risk. We will review the available literature, particularly focusing on clinical data, to provide insights into these controversies. We describe guidelines for the surveillance and management of gastrointestinal polyps in PJS and review the data behind current recommendations.
"The recommended screening regimen for patients who are known to have Peutz-Jeghers syndrome consists of colonoscopy, upper endoscopy and small bowel follow-through, beginning at age 20 years and repeated at 2-year intervals. In addition, patients should be screened periodically for other malignancies: breast (physical examination and mammography annually, starting at age 25 years); cervix and ovary (physical exam, transvaginal ultrasound, and Pap smear annually), and testicles (physical examinationand ultrasonography as needed) . "
[Show abstract][Hide abstract] ABSTRACT: A polyp is defined as any mass protruding into the lumen of a hollow viscus. Colorectal polyps may be classified by their macroscopic appearance as sessile (flat, arising directly from the mucosal layer) or pedunculated (extending from the mucosa through a fibrovascular stalk). Colorectal polyps may also be histologically classified as neoplastic or as non-neoplastic (hyperplastic, hamartomatous, or inflammatory). The neoplastic polyps are of primary importance because they harbor a malignant potential, which represents a stage in the development of colorectal cancer. For this reason, it is essential to identify these polyps at a sufficiently early stage, when a simple outpatient procedure to remove them can interrupt the development of colorectal cancer and prevent disease and death. When invasive carcinoma arises in a polyp, careful consideration must be given to ensuring the adequacy of treatment. Although most neoplastic polyps do not evolve into cancer, it is well accepted that the majority of colorectal carcinomas evolve from adenomatous polyps; the sequence of events leading to this transformation is referred to as the adenoma-to-carcinoma sequence.
The presence of a systemic process that promotes the development of multiple gastro-intestinal polyps is termed ‘polyposis’. Hereditary gastro-intestinal polyposis syndromes account for approximately 1% of all cases of colorectal cancer and are associated with a broad spectrum of extra-colonic tumors. Early detection and accurate classification of these syndromes are essential, in order to initiate a surveillance program for the early detection of cancer. Several polyposis syndromes have been described, each having its own genetic basis and characteristic polyp distribution, clinical presentation, and malignancy risk.
Diagnostic modalities and treatment options for neoplastic polyps—as well as the most prevalent polyposis syndromes—are reviewed below.
"Germline-inactivating mutations in one allele of the STK11/LKB1gene at chromosome 19p13.3 have been found in most Peutz–Jegher's syndrome. Genital tract neoplasms in the female patients with PJS include ovarian neoplasms from the epithelium and stromal cells, adenoma malignum of the cervix, and adenocarcinomas of the endometrium. "
[Show abstract][Hide abstract] ABSTRACT: Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome can be associated with other neoplasms such as ovarian neoplasms known as sex-cord tumor with annular tubules that are associated in one third of the cases with this syndrome and other types of malignancies. We report a 42-year-old woman with a history of Peutz-Jeghers Syndrome and bilateral breast cancer that presented with abnormal uterine bleeding. Total abdominal hysterectomy with bilateral salpino-oophorectomy was done and an ovarian sex cord tumor with annular tubules was incidentally diagnosed. By reviewing literatures and in agreement with previous studies we suggest routine screening for malignancies in patients with Peutz-Jeghers syndrome.
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