What is the history of Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and distinctive pigmented spots on the lips, oral mucosa, and other parts of the body. The syndrome was first described independently by two physicians, Jan Peutz and Harold Jeghers, in the early 20th century.

Jan Peutz, a Dutch physician, first reported the condition in 1921. He described a family with multiple members affected by intestinal polyposis and mucocutaneous pigmentation. Peutz's observations were published in a Dutch medical journal, but due to the language barrier, his work initially went unnoticed by the international medical community.

Harold Jeghers, an American physician, independently identified a similar condition in 1949. Jeghers encountered a patient with multiple polyps and pigmented spots and recognized the familial nature of the disorder. He published his findings in the American Journal of Medicine, bringing attention to the syndrome.

It wasn't until the 1950s that the connection between Peutz's and Jeghers' work was established. Researchers realized that both physicians had described the same syndrome, which became known as Peutz-Jeghers syndrome.

Genetic studies conducted in the following decades revealed that PJS is an autosomal dominant disorder caused by mutations in the STK11 gene, also known as LKB1. The STK11 gene provides instructions for producing a protein that acts as a tumor suppressor, helping to regulate cell growth and division. Mutations in this gene lead to the development of polyps and increase the risk of various cancers.

Clinical features of Peutz-Jeghers syndrome include the presence of hamartomatous polyps in the gastrointestinal tract, which can cause intestinal obstruction or bleeding. The characteristic pigmented spots, known as mucocutaneous melanin pigmentation, typically appear in childhood and may fade over time. Individuals with PJS also have an increased risk of developing various types of cancer, including colorectal, pancreatic, breast, ovarian, and testicular cancer.

Management of Peutz-Jeghers syndrome involves regular surveillance for polyps and early detection of cancer. Endoscopic procedures, such as colonoscopy and upper endoscopy, are performed to monitor and remove polyps. Genetic counseling is essential for affected individuals and their families to understand the inheritance pattern and potential risks.

While the discovery of the STK11 gene mutation has provided valuable insights into the molecular basis of PJS, there is ongoing research to further understand the syndrome and develop targeted therapies. The rarity of Peutz-Jeghers syndrome emphasizes the importance of collaboration among researchers, clinicians, and affected individuals to advance knowledge and improve patient outcomes.