Abstracts

RETURN TO ABSTRACT LISTING


E2412. Peutz–Jeghers Syndrome and the Role of Abdominal Imaging: Pathophysiology, Diagnosis, and Associated Abdominal Cancers
Authors
  1. Abdelrahman Abusaif; University of Texas, MD Anderson Cancer Centre
  2. Ahmed Moawad; University of Texas, MD Anderson Cancer Centre
  3. Aline Khatchikian; McGill University
  4. Alexandra Wright; University of Texas, MD Anderson Cancer Centre
  5. Juan Ibarra Rovira; University of Texas, MD Anderson Cancer Centre
  6. khaled Elsayes; University of Texas, MD Anderson Cancer Centre
Background
Peutz-Jeghers Syndrome (PJS) is a rare familial syndrome that is strongly associated with both abdominal & non-abdominal cancers. Although the syndrome is rare, imaging screening can significantly improve patient survival by early detection of subtle imaging findings of these cancers. Abdominal imaging is a cornerstone for the management of these patients due to the high incidence of abdominal cancers in this cohort. We aim to educate abdominal radiologists about this syndrome so they can add the best value to the management of these patients.

Educational Goals / Teaching Points
We want first to introduce the genetic & epidemiologic background of PJS & discuss its common presentations & diagnostic criteria. In addition, we will summarize the risk of different cancers in PJS patients, according to current literature. Audience will learn various imaging modalities for cancer screening in established PJS cases. Our presentation will then illustrate cancers diagnosed by imaging in PJS. We will finish by demonstrating the impact of imaging surveillance on patient outcomes.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
As part of the general introduction to PJS, it’s important to identify the incidence, etiology, the underlying genetic error, and mode of inheritance. From a clinical standpoint, the frequent clinical presentations of PJS (mucocutaneous pigmentation, intussusception) shall be discussed. Also, the non-imaging work-up for the syndrome (genetic testing, colonoscopy, upper endoscopy) will be discussed. As regards the associated cancers that can be detected by imaging, we will discuss strongly associated GIT & pancreatic cancers, gynecologic cancers, and breast cancer. After we thoroughly discussed the pathologic & anatomic background as above, we will discuss in detail the role of radiologists in the diagnosis & management of PJS. We will discuss how pancreatic CT &/or MRI examination can be used for surveillance & early detection of PJS-associated pancreatic cancers. Another important imaging modality is the GI series & its role in diagnosis of GIT cancers associated with PJS. Pelvic ultrasonography will be discussed as well, as it plays a critical role in the surveillance of gynecologic cancers. After that, we will illustrate some PJS-associated cancer cases that were diagnosed by abdominal imaging in our institution. Finally, we will conclude the value added by these imaging modalities to improving patient outcomes.

Conclusion
PJS syndrome is a very interesting syndrome that exemplifies how can simple imaging techniques can significantly be involved in disease management. Allabdominal radiologists should know the subtle imaging findings of the cancers associated with the syndrome, so that they can actively improve patient survival.