Hereditary disorders Flashcards
1
Q
Peutz-Jeghers syndrome (PJS)
A
Description:
- a rare autosomal dominant disorder characterised by melanotic macules, intestinal polyps and increased risk of cancers
- most often due to germline mutations in the STK11 (LKB1) gene encoding a serine threonine kinase mapped to chromosome 19p13.3. This mutation in combination with an acquired genetic defect of the second STK11 allele in somatic cells, are responsible for the clinical manifestations of PJS
- STK11 is a designated tumor suppressor gene that regulates the activity of AMP-activated protein kinase (AMPK) family members to control multiple cellular processes including cell polarity, metabolism, and apoptosis
Clinical features:
- Individuals with at least 2 of the following characteristics may be considered to have PJS:
- At least 2 Peutz-Jeghers type hamartomatous polyps in the small intestine
- Characteristic freckling of the mouth, lips, fingers, or toes
- At least 1 relative diagnosed with PJS
