[Coexistence of Peutz-Jeghers' syndrome and Lynch's syndrome in the same patient]

Area of Science:

• Genetics and Oncology
• Gastroenterology

Background:

• Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder caused by STK11 (LKB1) gene mutations, leading to hamartomatous polyps and increased risks of gastrointestinal and breast cancers.
• Lynch syndrome, also known as hereditary non-polyposis colorectal cancer, results from DNA mismatch repair gene mutations, significantly elevating the risk of colorectal, endometrial, and other cancers.

Observation:

• This report describes a rare case of a young woman diagnosed with colorectal cancer.

Findings:

• The patient presented with the coexistence of both Peutz-Jeghers syndrome and Lynch syndrome.
• This combined occurrence of PJS and Lynch syndrome has not been previously documented in medical literature.

Implications:

• This case highlights the importance of considering multiple genetic predispositions in patients with early-onset cancers.
• Understanding such rare genetic associations can refine cancer risk assessment and management strategies for affected individuals and families.