What is the frequency of Peutz-Jeghers syndrome (PJS)?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Answer

Peutz-Jeghers syndrome (PJS) is rare in the United States, with a frequency of encounter from polyposis registries one tenth that of familial adenomatous polyposis. This would place the frequency between 1 case per 60,000 people and 1 case per 300,000 people.

The international frequency of Peutz-Jeghers syndrome is unknown, but given the rarity of this condition, the frequency is probably similar to that reported in the United States. Specific mutations of the STK11/LKB1 gene, however, may be more common in certain ethnic groups. For example, Zuo et al reported two new mutations in three Chinese families that had not been previously described in white families,  [19, 20, 40, 41, 42, 43, 44, 45]  Zhao et al found one novel mutation each in two Chinese patients, [36, 37] Chiang and Chen discovered five new mutations in eight unrelated Taiwanese families, [38] and Jang et al reported complete STK11 deletion in a Korean patient. [39]


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