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[Peutz-Jeghers syndrome: case report and update on diagnosis and treatment]
L Capasso1, P Lombari, M I Scarano
1Azienda Ospedaliera di Rilievo Nazionale, U. O. di Chirurgia Generale, Dipartimento di Chirurgia Generale e Specialistica e di Alta Specializzazione, Ospedale Civile, Caserta, Italy.
Insights
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder linked to LKB1/STK11 gene mutations. Early diagnosis through DNA screening is crucial for cancer prevention in at-risk individuals.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder affecting 1 in 120,000 livebirths.
- Characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation, PJS increases cancer risk in multiple organs.
- Surveillance protocols are essential for early detection and management of PJS-related complications.
Observation:
- This paper presents a case of a surgically treated PJS patient.
- DNA screening identified the causative mutation in the LKB1 (STK11) gene.
- A review of existing literature on PJS is included.
Findings:
- Germline mutations in the LKB1/STK11 gene on chromosome 19p13.3 are the primary cause of PJS.
- A potential second locus on chromosome 19q13.4 is suspected in some families.
- Identification of specific mutations enables presymptomatic diagnosis.
Implications:
- Presymptomatic diagnosis allows targeted surveillance for mutation carriers, optimizing patient management.
- Establishing an Italian PJS registry is proposed for better data collection and research.
- Early identification and surveillance can significantly reduce cancer development and improve outcomes for PJS patients.
Abstract:
Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition with an incidence of 1/120.000 liveborns, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. This syndrome predisposes to various clinical problems such as intussusception and cancer development in different loci (gastrointestinal tract, breast and ovary). For this reason, PJS patients should undergo a surveillance protocol of the genital and gastrointestinal apparatus. Therefore, the early diagnosis of PJS in at-risk family members is very important in preventing cancer development. Germline mutations within the LKB1 or Serine Threonine Kinase (STK11) gene, located on chromosome 19p13.3, are responsible for most cases of PJS so far studied. The existence of a second locus is suspected on chromosome 19q13.4 in a minority of families. The LKB1 gene, recently cloned, encodes the Serine Threonine Kinase LKB1 and is ubiquitously expressed. The identification of the disease-causing mutation in each family makes it possible to perform a presymptomatic diagnosis; therefore, only the mutation carriers will undergo the clinical surveillance program. In this paper, the case of a PJS patient who has been surgically treated is presented. The DNA screening of the LKB1 gene in this patient has led to the identification of the causing mutation. A critical review of the literature and is also presented as well as the proposal to establish an Italian Registry of PJS.