Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers

Abstract

The Peutz-Jeghers Syndrome (PJS) is an autosomal dominant neoplastic syndrome defined by hamartomatous polyps through the gastrointestinal tract, development of characteristic mucocutaneous pigmentations, and an elevated lifetime cancer risk. The majority of cases are due to a mutation in the STK11 gene located at 19p13.3. The estimated incidence of PJS ranges from 1:50,000 to 1:200,000. PJS carries an elevated risk of malignancies including gastrointestinal, breast, lung, and genitourinary (GU) neoplasms. Patients with PJS are at a 15- to 18-fold increased malignancy risk relative to the general population. Radiologists have an integral role in the diagnosis of these patients. Various imaging modalities are used to screen for malignancies and complications associated with PJS. Awareness of various PJS imaging patterns, associated malignancies, and their complications is crucial for accurate imaging interpretation and patient management. In this manuscript, we provide a comprehensive overview of PJS, associated malignancies, and surveillance protocols.

Gastrointestinal bleeding after endoscopic mucosal resection in a case of Peutz–Jeghers syndrome with hypofibrinogenemia: A case report

“…The risk of death in patients with gastrointestinal cancer is 13 times higher than that in the general population. Moreover, such patients have a nine times higher risk of any other malignancy (particularly cancer of the reproductive organs, breast, pancreas, and lung) than the general population ( 20 , 21 ). Chronic bleeding from gastrointestinal polyps can cause anemia and life-threating conditions, such as intussusception ( 22 ).…”

Altered Gut Microbiota in Patients With Peutz–Jeghers Syndrome

“…Peutz–Jeghers syndrome (PJS) is an autosomal-dominant hereditary disease characterized by gastrointestinal hamartomatous polyps, mucocutaneous melanin deposits, and a predisposition for both gastrointestinal and non-gastrointestinal cancer (Giardiello et al, 1987 ; Sengupta and Bose, 2019 ; Tacheci et al, 2021 ). Colorectal, gastric, small intestinal, breast, and pancreatic cancers are the most common malignancies associated with PJS (Klimkowski et al, 2021 ; Sandru et al, 2021 ; Tacheci et al, 2021 ). The primary manifestation of PJS is the presence of hamartoma polyps throughout the gastrointestinal tract.…”

Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception

“…In 1949, Jeghers et al introduced the relevant clinical features of the disease in detail and systematically [ 3 ]. In 1954, Dr. Bruwer of the Mayo Clinic named the syndrome as “Peutz-Jeghers syndrome”, with an incidence of 1/200,000 to 1/50,000 [ 1 , 2 , 4 , 5 ]. PJS mainly has the following three clinical features: 1) Melanoma that can be seen on the lips, nose, cheeks and the palms of the extremities, and in a few patients it can also be found on the palm and sole surface, eyelids, tongue, perineal skin and gastrointestinal mucosa; 2) Gastrointestinal polyps that can be found in any part of the gastrointestinal tract, mainly in the small intestine; 3) Genetic features: it is an autosomal dominant genetic disorder.…”