I received a patient with intestinal obstruction at the beginning of September this year. Before I saw the patient, I thought that I had intestinal obstruction at the age of 25. After seeing the patient, I understood, this patient is very thin, around the eyes, around the mouth and lips, oral mucosa scattered obvious black spots, and then look at the hands, both calves, both feet also exist a number of scattered black spots, ask the medical history that his infant began to appear black spots on the face, 7 years old from time to time due to intestinal obstruction, gastrointestinal polyps hospitalization, has been several times surgery, and his father, sister died of the same disease. Here I think many people already have the answer in their mind, that is “dark spot polyp syndrome”, below I will learn together with you what is dark spot polyp syndrome.
Peutz-Jeghers syndrome (PJS), also known as dark spot polyp syndrome, pigmented polyp syndrome, is an autosomal dominant disorder in which the serine threonine kinase 11 oncogene (STK11/LKB1 gene) is the only gene known to be associated with PJS, and 40%-60% of the disease is associated with mutations in the KLB1 gene. 2021 January European Hereditary In January 2021, the European Hereditary Tumor Group (EHTG) published guidelines for the management of PJS, recommending that patients with PJS should undergo genetic testing regardless of their age.
PJS has two major features: first, pigmentation, commonly seen in and around the mouth and lips, around the eyes and nose, hands, feet, perianal area, and occasionally in the intestinal mucosa; second, multiple polyps in the gastrointestinal tract, and varying in size, with polyps forming at 0-9 years of age and most showing symptoms at 10-30 years of age. The main clinical manifestations are bloody stools, abdominal pain, anemia, intussusception, and intestinal obstruction.
PJS diagnosis: (1) family history, (2) dark spots on the face and extremities, multiple gastrointestinal polyps, (3) pathological examination of polyps suggesting misshapen tumors, and (4) genetic testing for STK11 gene mutation.
For small polyps, they can be removed under gastroscopy, and for larger polyps or more polyps, part of the intestine or the whole colon can be removed surgically. For recurrent intussusception and intestinal obstruction, surgical treatment is recommended. The main medical treatment is symptomatic drug prophylaxis. Recent domestic and foreign studies have found that selective cyclooxygenase-2 inhibitors (COX-2 inhibitors) can reduce the appearance of new polyps and relieve gastrointestinal symptoms, such as nausea and vomiting. The cancer rate is 93%, among which gastrointestinal cancer accounts for 70%, followed by breast cancer, pancreatic cancer, lung, uterus, ovary, testis and thyroid cancer, so lifelong follow-up is needed.