Question: What is (are) Peutz-Jeghers syndrome ?
Answer: Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers.
Source: GARD

Question: What are the symptoms of Peutz-Jeghers syndrome ?
Answer: What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life. People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors. Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. The Human Phenotype Ontology provides the following list of signs and symptoms for Peutz-Jeghers syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Hypermelanotic macule 90% Intestinal polyposis 90% Lip hyperpigmentation 90% Melanocytic nevus 90% Abdominal pain 7.5% Abnormality of nail color 7.5% Biliary tract neoplasm 7.5% Esophageal neoplasm 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Gynecomastia 7.5% Intestinal obstruction 7.5% Nasal polyposis 7.5% Nausea and vomiting 7.5% Neoplasm of the breast 7.5% Neoplasm of the colon 7.5% Neoplasm of the lung 7.5% Neoplasm of the pancreas 7.5% Neoplasm of the rectum 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the stomach 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Testicular neoplasm 7.5% Uterine neoplasm 7.5% Abnormality of the mouth - Abnormality of the ureter - Autosomal dominant inheritance - Biliary tract abnormality - Breast carcinoma - Clubbing of fingers - Gastrointestinal carcinoma - Hamartomatous polyposis - Intestinal bleeding - Intussusception - Iron deficiency anemia - Ovarian cyst - Precocious puberty with Sertoli cell tumor - Rectal prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Peutz-Jeghers syndrome ?
Answer: What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.
Source: GARD

Question: Is Peutz-Jeghers syndrome inherited ?
Answer: Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Source: GARD

Question: How to diagnose Peutz-Jeghers syndrome ?
Answer: Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
Source: GARD