Peutz-Jeghers syndrome is a hereditary syndrome characterized by gastrointestinal polyps, mucocutaneous pigmented lesions, and an increased risk of developing cancer.1
In particular, patients with Peutz-Jeghers syndrome have an increased risk of gastrointestinal, gynecologic, breast, lung, and genitourinary cancers. The estimated lifetime risk of any cancer is as high as 93% for patients with this syndrome.2
Estimates suggest that 50% to 80% of families with Peutz-Jeghers syndrome have mutations in STK11.1 The remaining cases of Peutz-Jeghers syndrome likely result from de novo mutations.
History of the Name
Johannes Peutz, MD, and Harold Jeghers, MD, are the namesakes of Peutz-Jeghers syndrome. Dr Peutz was born in Uithuizen, Netherlands, in 1886 and died in 1957.3 He studied medicine at the universities of Groningen and Utrecht and graduated in 1914.
Dr Jeghers was born in New Jersey in 1904 and died in 1990.4 In 1928, he received Rensselaer Polytechnic Institute’s first Bachelor of Science in Biology degree. Dr Jeghers went on to study medicine at Case Western Reserve University School of Medicine and trained in internal medicine at Boston City Hospital.
Neither Dr Peutz nor Dr Jeghers was the first to document the syndrome that bears their names. Peutz-Jeghers syndrome was first documented in 1895 by JT Conner, MD.5 Dr Conner described identical twin sisters with oral and labial pigmentation. One sister died of intestinal obstruction at age 20 and the other of breast cancer at age 59. Dr Conner’s report on these twins did not mention intestinal polyposis.
It was Dr Peutz who described the connection between intestinal polyposis and
mucocutaneous lesions in 1921, based on his studies of 7 family members over 3 generations. After information on this family was published, the syndrome became known as “Peutz disease” in the Netherlands and the rest of Europe.3
In 1939, Dr Jeghers cared for a teenage girl with melanin pigmentation of the oral mucosa, lips, and digits as well as intestinal polyposis and intestinal obstruction from intussusception.4 When he saw a second patient with the same clinical constellation, Dr Jeghers suspected a specific syndrome with a genetic explanation.
In 1949, Dr Jeghers defined the autosomal dominant pattern of inheritance for Peutz-Jeghers syndrome. In his article, Dr Jeghers cited Dr Peutz’s report from 1921.
However, it wasn’t until 1954 that the term “Peutz-Jeghers syndrome” was coined.5 It was first used by Andre Bruwer, MD, in an article about the syndrome.
- Wu M, Krishnamurthy K. Peutz-Jeghers syndrome. Treasure Island,FL: StatPearls Publishing; 2022.
- Peutz-Jeghers syndrome (PJS). Cleveland Clinic. Updated January 2, 2019. Accessed June 2, 2022. https://my.clevelandclinic.org/health/diseases/17362-peutz-jeghers-syndrome-pjs
- Peutz-Kootstra CJ. Peutz, Johannes Laurentius Augustinus (1886–1957). In: van den Tweel JG, ed. Pioneers in Pathology. Encyclopedia of Pathology. Springer, Cham. 2017.
- Bury YA. Jeghers, Harold Joseph (1904–1990). In: van den Tweel JG, eds. Pioneers in Pathology. Encyclopedia of Pathology. Springer, Cham. 2017.
- Kumar P, Brazel D, Benjamin DJ, Brem E. Eponyms in medical oncology. Cancer Treat Res Commun. 2022;31:100516. doi:10.1016/j.ctarc.2022.100516