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

1
Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA
2
Department of Diagnostic and Interventional Radiology, University of Kansas-Wichita, Wichita, KS 67214, USA
3
Department of Diagnostic and Interventional Radiology, The University of Texas Medica Branch, Galveston, TX 77555, USA
4
Department of Diagnostic and Interventional Radiology, Mercy Catholic Health System, Darby, PA 19023, USA
*
Authors to whom correspondence should be addressed.
Academic Editor: Mary Frances McMullin
Cancers 2021, 13(20), 5121; https://doi.org/10.3390/cancers13205121
Received: 9 September 2021 / Revised: 7 October 2021 / Accepted: 8 October 2021 / Published: 13 October 2021
(This article belongs to the Special Issue Cancer Imaging: Current Practice and Future Perspectives)
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.
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. View Full-Text
Keywords: Peutz-Jeghers Syndrome; PJS; Peutz-Jeghers Syndrome imaging Peutz-Jeghers Syndrome; PJS; Peutz-Jeghers Syndrome imaging
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MDPI and ACS Style

Klimkowski, S.; Ibrahim, M.; Ibarra Rovira, J.J.; Elshikh, M.; Javadi, S.; Klekers, A.R.; Abusaif, A.A.; Moawad, A.W.; Ali, K.; Elsayes, K.M. Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers. Cancers 2021, 13, 5121. https://doi.org/10.3390/cancers13205121

AMA Style

Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM. Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers. Cancers. 2021; 13(20):5121. https://doi.org/10.3390/cancers13205121

Chicago/Turabian Style

Klimkowski, Sergio, Mohamed Ibrahim, Juan J. Ibarra Rovira, Mohamed Elshikh, Sanaz Javadi, Albert R. Klekers, Abdelraham A. Abusaif, Ahmed W. Moawad, Kamran Ali, and Khaled M. Elsayes 2021. "Peutz–Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers" Cancers 13, no. 20: 5121. https://doi.org/10.3390/cancers13205121

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