Peutz Jegher’s Syndrome (PJS) is a hereditary polyposis syndrome, in which multifunctional polyps, especially of the vermilion borders of your lips, occur in the gastrointestinal tract.
The autosomal dominant way is affected by an STK11 (LKB1) gene germ-line transmutation.
A European group of professionals who have gathered in 2007in Mallorca and developed guidance on the clinical treatment of Lynch syndrome and family adenoma polyposis, these proposed guidelines were produced as a consensus statement.
Peutz Jegher’s Syndrome was reported firstly by the English doctor who identified two-sisters in oral-pigmentation, which the doctor J Hutchinson then demonstrated.
From the two sisters, one died at the age 20, and the other at the age of 52 died of intussusceptions.
Brewer et al, in 1954 based on the eponym Peutze Jeghers-syndrome, the name of the Peutz work identifying a family with a dominant autosomal background Polyposis gastrointestinal and pigmented membranes of the mucosa and Jeghers, describing as a separate therapeutic group the coexistence of mucocutaneous and gastrointestinal polyposis.
The prevalence of this disease in 200 000 live births is estimated from 1 in 50 000
Unlike PJS pigmentation, scratches never lie across the nose and mouth or on the buccal mucosa. While the pigmentation form and position are identical.
Laugier-Hunzik syndrome can be observed in the benign condition; many variations occur. In the young to medium-age individuals, the profusion of perioral pigmentation is generally unexplained.
Conjunctival pigmentation is visible and these patients may have longitudinal numeral melanonychia around 95% of patients, mucocutaneous pigmented lesions develop which may be the first sign of a person getting PJS.
Infancy lesions appear to develop in the jaw, the nostrils, perianal regions, fingertips, toes, and dorsal and volar feet. After puberty, they can diminish but remain in oral mucosa.
Pigmented-macules in basal cells is enhanced by the melanin migration from melanocyte to keratinocyte, likely due to an inflammatory block. Life freckling is not uncommon in PJS.
Carney Complex, a spotty skin pigment and etintidine syndrome, most often present on the appearance, particularly on cheeks, is differential diagnosis.
The polyps are seen in the PJS display forms of histological characteristics, with a front-like elongated epithelial portion and dilatating the cystic gland into the submucosa or musculoskeletal propria.
These tumors are sometimes called hamartomas, but their nature is controversial. The mechanism behind its creation has been proposed to be mechanical or to arise from stromal neoplasia.
Causes of Peutz Jegher’s Syndrome
PJS is a dominant autosomal disease with inadequate penetration and variable expression. Chromosomes were first connected in 1997.
The trigger was identified by two different laboratories in 1998.STK11 mutation, also known as LKB1 gene is called STK11 mutation. About 30%-70% of rare PJS case cases with 70% of people with family history of the disorder are shown to be mutation mutating in the STK11/LKB1 gene.
In this disorder it is not known the rate of spontaneous mutation. The be short of discovery of a mutation of the STK11 gene in every patient involved indicates that existing molecular approaches, genetic mosaicism and PJS loci have to be minimized.
For this latter, some experiments have indicated that the chromosomes 19q and 16q are associated with loci.
The gene STK11/LKB1 spans 23 kb, has 9 exons and codifies a protein of STK 433 amino acid Most mutations, including deletions of nonsense, inserts and rearrangements in PJS patients result in zero alleles.
About 65 percent of known STK mutations are shown to affect the structure of the protein. Misusing mutations found in others, though are frequently of uncertain therapeutic relevance and contribute to an ineffective test outcome.
Certain data shows to the gene STK11 is a lump suppressor. Serine / threonine kinase serves because a metabolism and cubicle polarity regulator for the cell cycle.
Symptoms of Peutz Jegher’s Syndrome
For stomach or colon polyps bigger than 1 cm in the extent during the endoscopic monitoring, most authorities prescribe polypectomy.
Surgery for minor bowel tumors or else asymptomatic polys wider than 1—1. was suggested with symptomatic or rapidly increasing impact.
Some experts say that an effort should be made during laparotomy to rid the small intestines of polyps (‘clean sweep’).
Concurrent inter operational endoscopy with Polypectomy or enterotomy for bigger polyps may render things simpler. The spotless brush strategy seems toward reduce the need for recurring bowel operations.
Recently, a double enterostomy has been documented to eliminate small bowel PJS polyps and the need for laparotomy may be decreased.
There is case by case the possibility of prophylactic mastectomy, and guidance on safety and reconstitution options should be given. There is no direct advantage of chemoprevention.
The same size of the risk for PJS breast cancer argues that these guidelines should be accepted for women affected by PJS.
Diagnosis of Peutz Jegher’s Syndrome
An analysis of the relationship genotype-phenotype showed that people who have missense mutations were started slightly more later than those with truncating mutations or observable mutations to the first polypectomy and to other symptoms.
There are currently multiple laboratory-based clinical genetic studies for STK11 gene mutations. Sequencing of the entire coding region is the main approach used.
The test price varies from $975–$1400 to classify the proband mutations, which substantially lower the expense of testing family members at risk for a documented pedigree mutation.
The feasibility of these studies is uncertain, however, and the helical computed tomography (CT)as well as the endoscopies ultrasounds, and MRI/magnetify quality cholangiopan keratography.
However, there are some evidences for endoscopic ultrasound, which seems to be the safest way to diagnose early pancreatic cancer with a reduced chance of adverse effects.
Endoscopic ultrasound aspiration, which is guided by fine needle, will also include histologically detected spot dysplasia, timely tumor and precancerous lesions.
Treatment of Peutz Jegher’s Syndrome
In PJS patients, the lifetime chance for colorectal cancer is around 39%. Most authorities thus prescribe colonoscopy monitoring, but vary in their initiation age.
Therefore, start of colonoscope monitoring at age 18, some authorities are advised to do so 5–10 years before the earliest diagnostic malignancy in the family, satisfying the dictum of initial monitoring.
The rise in incidence for people with similar colorectal cancer risk due to family history is associated with an interval from 2-3 years.
It remains controversial how cancer grows with PJS and the PJS polyp’s role in cancer development. A special hamartoma adenoma-carcinoma mechanism was suggested. It was proposed.
The discovery of adenomatous emphasis in PJS polyps as well as the definition of tumor in the PJS polyps supports this theory. Others indicated the lack of malignant capacity for PJS polyps.
The malignant transformation inside a PJS polyp is only used to support this theory as an unusual occurrence. Furthermore, PJS polyps are proved. Persuaded by the mutation in the STK11, instead of a veritable hematoma, cell polarity.
Peutz-Jeghers disorder (PJS) can’t be relieved — it is a long-lasting condition that can be given to youngsters.
Individuals with PJS should be checked often for creating polyps. Those polyps can form into disease or cause a blockage that could require a medical procedure.