Peutzjeghers syndrome pjs is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps. Peutzjeghers families unlinked tostk11lkb1 gene mutations. Peutz jeghers syndrome pjs is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. Although 5 patients died of causes unrelated to pjp, the remaining 46werealive as ofthelast scheduled followup. We report the case of two brothers suffering from peutzjeghers syndrome whose father and grandfather died as a consecuence of the progression of an intestinal. Low frequency of somatic mutations in the lkb1peutzjeghers syndrome gene in sporadic breast cancer. Nov 21, 2009 peutz jeghers syndrome pjs belongs among the most important familial hamartomatous polyposis syndromes, and is associated with significant morbidity, variable clinical course and considerable predisposition to malignancy. Although small bowel intussusception is a recognised complication of pjs, risk varies between patients. Peutz jeghers syndrome pjs, also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1200,000 liveborns.
Bowel polyps by doubleballoon enteroscopy in patients with peutzjeghers syndrome. Although peutz jeghers syndrome pjs is thought to be associated with an increased pancreatic cancer pc risk, estimates of this risk differ widely. Cooccurrence of an adenoma malignum and an endocervicaltype. Peutz jeghers syndrome is one of the polyposis syndromes. A window to small bowel polypectomies in peutzjeghers syndrome 214. This original family has now been followedup for more than 78 years. In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, pjs is also associated with the development of tumours in various sites. But many of these cancers can be diagnosed and treated early by testing for anaemia and sensible reporting of unusual lumps and bumps. Peutzjeghers syndrome pjs is an autosomal dominant inherited disease, characterized by multiple gastointestinal gi hamartomatous polyps and mucocutaneous pigmentation 1, 2. Mutations in lkb1stk11, a gene mapping to chromosome 19p.
Peutzjeghers type hamartomatous polyp alexandra deduchova, petr volsansky, filip neumann, radim zalud abstract introduction. Peutz jeghers syndrome pjs is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps. Induction of cyclooxygenase2 in a mouse model of peutz. Stk11 status and intussusception risk in peutzjeghers. Pdf periorificial lentiginosis, also knew as peutzjeghers syndrome pjs, is an autosomally dominant inherited condition determined by a mutation. Peutzjeghers syndrome pjs is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. We describe the case of an 89yearold man admitted to our emergency department with symptoms of acute cholangitis, liver dysfunction, and slight jaundice. Massive intussusception caused by a solitary peutzjeghers type hamartomatous polyp v kalliakmanis1, i perysinakis2, k koutsouvas1, p karras1, e margaris3, c angelakis1 1surgical department, general hospital of agrinio, agrinio, aitoloakarnania, greece 2third surgical department, hygeia hospital, athens, greece 3third surgical department, g gennimatas. Peutz jeghers syndrome spj predisposes to cancer, and most originates in the small intestine, rectal colon, stomach and pancreatic adenocarcinoma. Solitary duodenal peutzjeghers pjtype hamartomatous polyps are rare and considered a different disease entity than classic pj syndrome. There were nine gastrointestinal and seven nongastrointestinal tumours. Heymann, md, are provided after each discussion as a topic summary and are provided here as a special service to readers of the journal of the american academy.
Management of duodenaljejunal polyps in children with. Solitary peutzjegherstype polyp is an uncommon hamartomatous lesion without associated mucocutaneous pigmentation, any other gastrointestinal polyp or a family history of peutzjeghers syndrome 9,10,11. Peutzjeghers syndrome pjs is a welldescribed inherited syndrome, characterized by the development of gastrointestinal polyps, and. The estimated incidence of pjs ranges between 1 in 50,000 and 1 in 200,000 live births. Peutzjeghers syndrome is one of the polyposis syndromes. Other rarer types involve the breast, colon of the uterus, testicles and ovaries. Dialogues in dermatology, a monthly audio program from the american academy of dermatology, contains discussions between dermatologists on timely topics. Endoscopic snare papillectomy for a solitary peutzjeghers. Germline mutations of the lkb1 gene, also known as stk11, located in the chromosomal region 19p.
A solitary peutzjeghers type polyp in the jejunum of a 19 yearold male. Cooccurrence of an adenoma malignum and an endocervical. Until the advent of balloonassisted enteroscopy, intraoperative enteroscopy and surgical treatment were the sole treatment options for patients with peutzjeghers syndrome. A solitary peutzjeghers type hamartomatous polyp in the duodenum is rare. Case report prepubertal gynecomastia in peutzjeghers.
We performed an individual patient metaanalysis to determine the relative risk rr of cancer in patients with pjs compared with the general population based on 210 individuals described in 6 publications. Overview of peutzjeghers and juvenile polyposis syndromes. Mutations in the serinethreonine kinase 11 stk11 gene are considered. Herve lefevre 1, claire bouvattier 1, najiba lahlou 1, catherine adamsbaum 1, pierre bougneres 1 and jeanclaude carel 1. This hampers counseling of pjs patients and the development of optimal screening strategies. Although peutzjeghers syndrome pjs is thought to be associated with an increased pancreatic cancer pc risk, estimates of this risk differ widely. There is an increased risk of benign and malignant tumors in the gastrointestinal tract and in extraintestinal tissues. The association between heredity, gastrointestinal polyposis, and mucocutaneous pigmentation in peutzjeghers syndrome pjs was first recognised in 1921 by peutz in a dutch family. Peutzjeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Loss of lkb1 kinase activity in peutzjeghers syndrome.
Until the advent of balloonassisted enteroscopy, intraoperative enteroscopy and surgical treatment were the sole treatment options for patients with. Very high risk of cancer in familial peutzjeghers syndrome. Bignell gr, barfoot r, seal s, collins n, warren w, stratton mr. It has an autosomal dominant inheritance and is characterized by. Small bowel intussusception in a pregnant woman with peutz. Among 72 patients with the peutz jeghers syndrome malignant tumours have developed in 16 22% of whom all but one have died. The affected gene encoding a serinethreonine kinase lkb1stk11 is located on chromosome. Jan 20, 2000 germline mutations of the lkb1 gene, also known as stk11, located in the chromosomal region 19p. Peutz jeghers syndrome associated with precocious puberty author links open overlay panel m.
Epigenetic inactivation of lkb1 in primary tumors associated. Peutz jeghers syndrome pjs is an autosomal dominant inherited disease, characterized by multiple gastointestinal gi hamartomatous polyps and mucocutaneous pigmentation 1, 2. Loss of lkb1 kinase activity in peutzjeghers syndrome, and. The woman was diagnosed with peutzjeghers syndrome based on an endoscopic biopsy after vaginal bleeding. Peutzjeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal. Peutzjeghers syndrome spj predisposes to cancer, and most originates in the small intestine, rectal colon, stomach and pancreatic adenocarcinoma. The association between heredity, gastrointestinal polyposis, and mucocutaneous pigmentation in peutz jeghers syndrome pjs was first recognised in 1921 by peutz in a dutch family. Prevalence of pjs is estimated from 1 in 8300 to 1 in 280 000 individuals.
A probable explanation is novel mutations in contributing genes. Massive intussusception caused by a solitary peutzjeghers type hamartomatous polyp v kalliakmanis1, i perysinakis2, k koutsouvas1, p karras1, e margaris3, c angelakis1 1surgical department, general hospital of agrinio, agrinio, aitoloakarnania, greece. Solitary duodenal peutz jeghers pjtype hamartomatous polyps are rare and considered a different disease entity than classic pj syndrome. Peutzjeghers syndrome is also called intestinal polyposiscutaneous pigmentation syndrome. They are both characterised by the development of polyps in the gastrointestinal tract, but the exact distribution of the polyps is different in each syndrome and the polyps themselves differ histologically. Mim 175200 1 is an autosomal dominantly inherited disorder characterised by mucocutaneous pigmentation and gastrointestinal hamartomas and is associated with considerable morbidity mainly from intussusception of gastrointestinal harmatomas. Solitary peutz jeghers type polyp is an uncommon hamartomatous lesion without associated mucocutaneous pigmentation, any other gastrointestinal polyp or a family history of peutz jeghers syndrome 9,10,11. Peutzjeghers syndrome associated with precocious puberty. Peutz jeghers syndrome pjs is caused by germline stk11 mutations and characterised by gastrointestinal polyposis.
The oral lesions were treated using a longpulse 3ms alexandrite 755 nm laser, with good results. Endocrine manifestations in pjs include gynecomastia due to calcified sertoli cell testicular tumors usually referred to as largecell. Introduction peutzjeghers syndrome pjs is an autosomal dominant hereditary disease caused by a germline mutation in the stk11 lkb1 gene, located on chromosome 19p. The peutz jeghers syndrome pjs is a rare autosomaldominant disorder classically characterized by the association of multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to various neoplasms 1, 2. Introduction germline mutations of the stk11lkb1 tumour suppressor gene 19p. Thus, as in peutzjeghers syndrome, the esophagus does not seem to be a.
Endoscopic polypectomy using doubleballoon enteroscopy is. The relative risk of cancer can be 18 times greater. There were 19 polyps in the stomach, 18 in the duodenum, 22 in the small intestine, and 16 in the large intestine, and these were histologically. A pelvic examination and an mri revealed the cooccurrence of a 4. Jeghers syndrome is caused by a mutation in the lkb1 gene, a tumor suppressor gene located on chromosome 19. To date, patients suffering from this condition have had to undergo frequent laparotomies because of intestinal obstruction by small intestinal polyps. Peutz jeghers syndrome pjs and juvenile polyposis syndrome jps are rare, autosomal dominantly inherited conditions. This mutation results in a decreased inhibition of mammalian target of rapamycin mtor, with uncontrolled cell growth as a result, manifesting as intestinal polyps fig. Inactivating germline mutations of the lkb1stk11 gene, which encodes a serinethreonine. Inactivating germline mutations of lkb1 lead to peutzjeghers syndrome pjs. Peutzjeghers syndrome pjs is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk.
Peutzjeghers syndrome is an autosomal dominant inherited polyposis disorder where diffuse characteristic gastrointestinal polyps, mainly involving the small bowel, coexist with mucocutaneous pigmentation. To analyse the time to onset of intussusception in a large series of pjs probands. Peutzjeghers syndrome with germline mutation of stk11. To clarify the potential for malignancy of peutzjeghers polyposis, we investigated 75 gastrointestinal polyps resected surgically or endoscopically from seven patients with this syndrome. As compared with peutzjeghers syndrome, peutzjeghers type hamartomatous polyps are regarded as a different disorder. Peutz jeghers syndrome pjs, named after the physicians peutz and jeghers for their recognition and description of this disease in the early 20th century, is a rare autosomal dominant inherited. Peutz jeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Families with pjs may show a variable spectrum of manifestations in spite of their consecutive generations. Small bowel intussusception in a pregnant woman with peutzjeghers syndrome onur tutar, burak kocak, mehmet velidedeoglu, bilgi baca, suleyman dikici, fuad nurili, and fatih kantarci scottish medical journal 2014 59.
To the best of our insight, its association with ccp and dysplastic changes in the overlying epithelium has never been reported again in. Massive intussusception caused by a solitary peutz jeghers. Neoplastic transformation arising in peutzjeghers polyposis. The peutzjeghers syndrome pjs is a rare autosomaldominant disorder classically characterized by the association of multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to various neoplasms 1, 2. This editorial will attempt to give an overview of uptodate knowledge on diagnostic and therapeutic aspects of this disease. Germline mutations in the serinethreonine kinase gene. Doubleballoon enteroscopy in the management of patients. Adult patients with pjs scheduled for surveillance capsule endoscopy were prospectively recruited and underwent mr enterography and capsule endoscopy.
Obstructing hamartomatous polyp in peutzjeghers syndrome. Peutzjeghers syndrome pjs, also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1200,000 liveborns. The peutzjeghers syndrome pjs is an autosomal dominant polyposis disorder with increased risk of multiple cancers, but literature estimates of risk vary. Longterm outcome in patients with a solitary peutz jeghers. Glossary anus the sphincter muscle at the very end. Recurrent small intestine intussusception in a patient. Peutzjeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract particularly the stomach and intestines and a greatly increased risk of developing certain types of cancer children with peutzjeghers syndrome often develop small, darkcolored spots on the lips, around and inside the mouth, near the eyes and. Report of a case combining solitary peutzjeghers polyp. Peutzjeghers syndrome pjs, named after the physicians peutz and jeghers for their recognition and description of this disease in the early 20th century, is. Mo1208 pancreatic cancer risk in peutzjeghers patients.
In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, pjs is also associated with the development of tumours in various. Pdf peutzjeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished. It is caused by mutations in the serinethreonine kinase 11 gene lkb1, stk11. Introductiongermline mutations of the stk11lkb1 tumour suppressor gene 19p.
A prospective study of mr enterography versus capsule. Duodenojejunal intussusception caused by a solitary peutz. Peutzjeghers syndrome pjs belongs among the most important familial hamartomatous polyposis syndromes, and is associated with significant morbidity, variable clinical course and considerable predisposition to malignancy. Longterm outcome in patients with a solitary peutz. Cronkhitecanada syndrome is a rare syndrome characterized by multiple polyps of the digestive tract. Heymann, md, are provided after each discussion as a topic summary and are provided here as a special service to readers of the journal of the american academy of dermatology. Peutzjeghers syndrome pjs is a rare autosomal dominant inherited disorder typified by its characteristic mucocutaneous pigmentation and gastrointestinal gi hamartomatous polyposis. The peutz jeghers syndrome is an uncommon autosomic predominant hereditary entity which main characteristics are the mucocutaneous pigmentation, associated to hamartomatosis polyps. Peutzjeghers families unlinked to stk11lkb1 gene mutations. We performed an individual patient metaanalysis to determine the relative risk rr of cancer in patients with pjs compared with the general population based on 210 individuals described in.
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