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Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is an early-onset autosomal dominant disorder characterized by melanocytic macules on the lips and the perioral and buccal regions and multiple gastrointestinal polyps, both hamartomatous and adenomatous.[290,291,292] Germline mutations in the STK11 gene at chromosome 19p13.3 have been identified in the vast majority of PJS families.[293,294,295,296,297] (Refer to the Peutz-Jeghers Gene(s) section of the PDQ summary on Genetics of Colorectal Cancer for more information.) A systematic review found a lifetime cumulative cancer risk, all sites combined, of up to 93%.[298]Table 6 shows the cumulative risk of these tumors. The high cumulative risk of cancers in PJS has led to various screening recommendations. (Refer to the PDQ summary on Genetics of Colorectal Cancer for more information.)

Although the risk of malignancy appears to be exceedingly high in individuals with PJS based on the published literature, the possibility that selection and referral bias have resulted in overestimates of these risks should be considered.

Table 6. Cumulative Cancer Risks in Peutz-Jeghers Syndrome Up To Specified Agea

GI = Gastrointestinal.
a Reprinted with permission from Macmillan Publishers Ltd: Gastroenterology[298], copyright 2010.
b All cumulative risks were increased compared to the general population (P < .05), with the exception of cervix and testes.
c GI cancers include colorectal, small intestinal, gastric, esophageal, and pancreatic.
d Westerman et al.: GI cancer does not include pancreatic cancer.[299]
e Did not include adenoma malignum of the cervix or Sertoli cell tumors of the testes.
SiteAge (y)Cumulative RiskbReference(s)
Any cancer60-7037%-93%[297,299,300,301,302,303]
GI cancerc,d60-7038%-66%[299,301,302,303]
Gynecological cancer60-7013%-18%[301,303]
Per origin
Stomach6529%[300]
Small bowel6513%[300]
Colorectum6539%[300,301]
Pancreas65-7011%-36%[300,301]
Lung65-707%-17%[300,301,303]
Breast60-7032%-54%[300,301,303]
Uterus659%[300]
Ovary6521%[300]
Cervixe6510%[300]
Testese659%[300]

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Last Updated: May 16, 2012
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