Scientific article
Open access

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome

Published inDigestive diseases and sciences, vol. 52, no. 8, p. 1924-1933
  • Open Access - Licence nationale Springer
Publication date2007

Germline mutations of the tumor suppressor gene LKB1/STK11 are responsible for the Peutz-Jeghers syndrome (PJS), an autosomal-dominant disorder characterized by mucocutaneous pigmentation, hamartomatous polyps, and an increased risk of associated malignancies. In this study, we assessed the presence of pathogenic mutations in the LKB1/STK11 gene in 46 unrelated PJS families, and also carried genotype-phenotype correlation in regard of the development of cancer in 170 PJS patients belonging to these families. All LKB1/STK11 variants detected with single-strand conformational polymorphism were confirmed by direct sequencing, and those without LKB1/STK11 mutation were further submitted to Southern blot analysis for detection of deletions/rearrangements. Statistical analysis for genotype-phenotype correlation was performed. In 59% (27/46) of unrelated PJS cases, pathogenic mutations in the LKB1/STK11 gene, including 9 novel mutations, were identified. The new mutations were 2 splice site deletion-insertions, 2 missenses, 1 nonsense, and 4 abnormal splice sites. Genotype-phenotype analysis did not yield any significant differences between patients carrying mutations in LKB1/STK11 versus those without mutations, even with respect to primary biliary adenocarcinoma. This study presents the molecular characterization and cancer occurrence of a large cohort of PJS patients, increases the mutational spectrum of LKB1/STK11 allelic variants worldwide, and provides a new insight useful for clinical diagnosis and genetic counseling of PJS families.

  • Adenocarcinoma/genetics
  • Adolescent
  • Adult
  • Aged
  • Bile Duct Neoplasms/genetics
  • Child
  • Chromosome Deletion
  • Female
  • Gene Rearrangement
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Peutz-Jeghers Syndrome/genetics
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Protein-Serine-Threonine Kinases/genetics
Citation (ISO format)
MEHENNI, Hamid et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. In: Digestive diseases and sciences, 2007, vol. 52, n° 8, p. 1924–1933. doi: 10.1007/s10620-006-9435-3
Main files (1)
Article (Published version)
ISSN of the journal0163-2116

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