Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Peutz-Jeghers Syndrome

System/ConcernEvaluationComment
Gastrointestinal
polyps/cancer
  • Colonoscopy
  • Upper endoscopy
  • Small-bowel exam by MRE or VCE
Beginning at age 8 yrs or earlier if symptomatic
Breast cancer
(females) 		Clinical breast examBeginning at age 18 yrs
Breast MRI & mammogramBeginning at age 30 yrs
Gynecologic
cancer (females) 		Exam for precocious pubertyBeginning at age 8 yrs
  • Pelvic exam for uterine & ovarian cancer (typically SCTAT)
  • Pap smear for cervical cancer (typically adenoma malignum)
Beginning at age 18-20 yrs
Testicular
cancer (males)
  • Testicular exam
  • Exam for feminizing changes in males
  • Testicular ultrasound exam if clinically indicated
Beginning at age 10 yrs
Pancreatic
cancer 		Pancreatic imaging w/endoscopic ultrasound or MRI/MRCP ideally performed at center of expertiseBeginning at age 30 yrs
Genetic
counseling 		By genetics professionals 1To inform patients & their families re nature, MOI, & implications of PJS in order to facilitate medical & personal decision making

MOI= mode of inheritance; MRCP = magnetic resonance cholangiopancreatography; MRE = magnetic resonance enterography; PJS = Peutz-Jeghers syndrome; SCTAT = sex cord tumors with annular tubules; VCE = video capsule endoscopy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Peutz-Jeghers Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.