Peutz-Jeghers syndrome

A diagnosis of Peutz-Jeghers syndrome (PJS) should be considered in a person who satisfies any one of the following:[3]Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86. http://www.ncbi.nlm.nih.gov/pubmed/20581245?tool=bestpractice.com [22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication]. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436 ​​

• Two or more histologically confirmed Peutz-Jeghers-type hamartomatous polyps (PJ-type polyps)

• Any number of PJ-type polyps with a family history of PJS in a first-degree relative

• Characteristic mucocutaneous pigmentation with a family history of PJS

• Any number of PJ-type polyps and characteristic mucocutaneous pigmentation.

Individuals who meet the clinical criteria should undergo genetic evaluation.[18]Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 Jun;162(7):2063-85. https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com