Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers
| Autor: | Mohamed Elshikh, Albert R. Klekers, Kamran Ali, Ahmed W Moawad, Mohamed Ibrahim, Sanaz Javadi, Khaled M. Elsayes, Sergio P Klimkowski, Juan J. Ibarra Rovira, Abdelraham A. Abusaif |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Cancer Research
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Mucocutaneous zone Population STK11 Peutz-Jeghers Syndrome Pigmentations Peutz–Jeghers syndrome Review Malignancy PJS medicine education skin and connective tissue diseases RC254-282 education.field_of_study Genitourinary system business.industry Neoplasms. Tumors. Oncology. Including cancer and carcinogens Peutz-Jeghers Syndrome imaging medicine.disease Dermatology Neoplastic Syndrome Oncology business |
| Zdroj: | Cancers, Vol 13, Iss 5121, p 5121 (2021) Cancers |
| ISSN: | 2072-6694 |
| Popis: | Simple Summary The Peutz-Jeghers Syndrome is a rare autosomal dominant syndrome characterized by mucocutaneous pigmentations, multiple gastrointestinal hamartomatous polyps, and an elevated risk of malignancy. Awareness of various Peutz-Jeghers Syndrome imaging patterns, associated malignancies, and their complications is crucial for accurate imaging interpretation and patient management. In this manuscript, we provide an overview of this condition, associated malignancies, and imaging surveillance protocols. 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. |
| Databáze: | OpenAIRE |
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