A Review on Peutz-Jeghers Syndrome

Abstract

Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant genetic disorder which mainly affects the gastrointestinal tract. The clinical features of PJS include the gastrointestinal polyposis, mucocutaneous melanocyte macules and risk of cancer. For the diagnosis of the Peutz-Jeghers Syndrome, the clinical findings are necessary. Serine/Threonine Kinase 11 (STK 11) is a heterozygous pathogenic variant which plays an important role for identifying the individuals at risk to develop PJS. Endoscopic monitoring with polypectomy can reduce the number of urgent abdominal incision and loss of bowel due to intestinal obstruction (intussusception). Imaging of the small intestine, balloon assisted and intraoperative enteroscopy are useful for removing the deep & large distal polyps within the small bowel. There are different approaches for small intestinal imaging such as video capsule endoscopy (VCE), CT enterography and magnetic resonance enterography. Standard treatment is required for the management of intestinal obstruction and tumours. On the basis of family history and the other clinical features, the prophylaxis for reducing the risk of breast cancer can include mastectomy. Monitoring of the children and adolescents at the age of 8 years or if negative, at the age of 18 years is essential by using the colonoscopic and upper endoscopic imaging. Repeat the screening for every 1 to 3 years, if there is any presence of polyps identified based on the size, frequency and histo-pathological aspects of the polyps. Genetic counselling involves the process of providing information to the family members or to the individuals regarding the nature of disease, inheritance and association of the genetic disorders which can benefit them to take their personal and the remedial decisions. Predictive testing can be helpful for the individuals at risk without symptoms among the family members. In individuals at risk, there is a necessity to undergo the evaluation of the cancer risk with or without genetic testing for understanding the remedial, psychosocial and ethical consequences. DNA banking will beneficial for further understanding of the genes, alleles and the diseases even though the probands have no confirmation in the aspect of molecular assessment and genetic alteration.