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

Autor: Klimkowski S; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA., Ibrahim M; Department of Diagnostic and Interventional Radiology, University of Kansas-Wichita, Wichita, KS 67214, USA., Ibarra Rovira JJ; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA., Elshikh M; Department of Diagnostic and Interventional Radiology, The University of Texas Medica Branch, Galveston, TX 77555, USA., Javadi S; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA., Klekers AR; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA., Abusaif AA; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA., Moawad AW; Department of Diagnostic and Interventional Radiology, Mercy Catholic Health System, Darby, PA 19023, USA., Ali K; Department of Diagnostic and Interventional Radiology, University of Kansas-Wichita, Wichita, KS 67214, USA., Elsayes KM; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA.
Jazyk: angličtina
Zdroj: Cancers [Cancers (Basel)] 2021 Oct 13; Vol. 13 (20). Date of Electronic Publication: 2021 Oct 13.
DOI: 10.3390/cancers13205121
Abstrakt: 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: MEDLINE
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