Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Peutz-Jeghers Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
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 exam	Beginning at age 18 yrs
Breast MRI & mammogram	Beginning at age 30 yrs
Gynecologic cancer (females)	Exam for precocious puberty	Beginning 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 expertise	Beginning at age 30 yrs
Genetic counseling	By genetics professionals ¹	To inform patients & their families re nature, MOI, & implications of PJS in order to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

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 exam

Beginning at age 18 yrs

Breast MRI & mammogram

Beginning at age 30 yrs

Gynecologic
cancer (females)

Exam for precocious puberty

Beginning 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 expertise

Beginning at age 30 yrs

Genetic
counseling

By genetics professionals ¹

To inform patients & their families re nature, MOI, & implications of PJS in order to facilitate medical & personal decision making

From: Peutz-Jeghers Syndrome

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