Germline mutations in the serinethreonine kinase gene. Mutations in the serinethreonine kinase 11 stk11 gene are considered. Peutz jeghers syndrome pjs is caused by germline stk11 mutations and characterised by gastrointestinal polyposis. 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. Epigenetic inactivation of lkb1 in primary tumors associated. Endoscopic snare papillectomy for a solitary peutzjeghers. Peutzjeghers syndrome pjs is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. A pelvic examination and an mri revealed the cooccurrence of a 4. Among 72 patients with the peutz jeghers syndrome malignant tumours have developed in 16 22% of whom all but one have died. Pdf periorificial lentiginosis, also knew as peutzjeghers syndrome pjs, is an autosomally dominant inherited condition determined by a mutation.
Jeghers syndrome is caused by a mutation in the lkb1 gene, a tumor suppressor gene located on chromosome 19. Peutzjeghers syndrome is also called intestinal polyposiscutaneous pigmentation syndrome. Inactivating germline mutations of the lkb1stk11 gene, which encodes a serinethreonine. It is caused by mutations in the serinethreonine kinase 11 gene lkb1, stk11. Case report prepubertal gynecomastia in peutzjeghers. A window to small bowel polypectomies in peutzjeghers syndrome 214. Peutz jeghers 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, and. This original family has now been followedup for more than 78 years. A solitary peutzjeghers type polyp in the jejunum of a 19 yearold male.
Families with pjs may show a variable spectrum of manifestations in spite of their consecutive generations. Until the advent of balloonassisted enteroscopy, intraoperative enteroscopy and surgical treatment were the sole treatment options for patients with peutzjeghers syndrome. 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. Peutzjeghers syndrome pjs is a rare autosomaldominant disorder characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to various neoplasms. This hampers counseling of pjs patients and the development of optimal screening strategies. 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. 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. Bignell gr, barfoot r, seal s, collins n, warren w, stratton mr. Peutzjeghers syndrome pjs is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. Management of duodenaljejunal polyps in children with.
As compared with peutzjeghers syndrome, peutzjeghers type hamartomatous polyps are regarded as a different disorder. Peutzjeghers syndrome pjs is a welldescribed inherited syndrome, characterized by the development of gastrointestinal polyps, and. Peutzjeghers syndrome pjs, named after the physicians peutz and jeghers for their recognition and description of this disease in the early 20th century, is. Longterm outcome in patients with a solitary peutz. A probable explanation is novel mutations in contributing genes. 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. There were nine gastrointestinal and seven nongastrointestinal tumours. 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. 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. Until the advent of balloonassisted enteroscopy, intraoperative enteroscopy and surgical treatment were the sole treatment options for patients with.
To the best of our insight, its association with ccp and dysplastic changes in the overlying epithelium has never been reported again in. Commentaries from dialogues editorinchief warren r. Peutzjeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Research article longterm outcome in patients with a solitary peutzjeghers polyp masaya iwamuro,1 yuki aoyama,2 seiyuu suzuki,3 sayo kobayashi,4 tatsuya toyokawa,5 yuki moritou,6 shinichiro hori,7 kazuhiro matsueda,8 masao yoshioka,9 takehiro tanaka,10 and hiroyuki okada1 1department of gastroenterology and hepatology, okayama university graduate. Jan 20, 2000 germline mutations of the lkb1 gene, also known as stk11, located in the chromosomal region 19p. Other rarer types involve the breast, colon of the uterus, testicles and ovaries. The affected gene encoding a serinethreonine kinase lkb1stk11 is located on chromosome. Solitary duodenal peutz jeghers pjtype hamartomatous polyps are rare and considered a different disease entity than classic pj syndrome. Peutz jeghers syndrome pjs is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps. 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. A prospective study of mr enterography versus capsule. We have generated mice heterozygous for a targeted inactivating allele of lkb1 and found that they develop severe gastrointestinal polyposis.
Introduction germline mutations of the stk11lkb1 tumour suppressor gene 19p. It has an autosomal dominant inheritance and is characterized by. It is an inherited or sporadic condition characterized by the development of hamartomatous polyps in the. 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. Peutzjeghers syndrome is one of the polyposis syndromes. Although small bowel intussusception is a recognised complication of pjs, risk varies between patients. Dialogues in dermatology, a monthly audio program from the american academy of dermatology, contains discussions between dermatologists on timely topics. The woman was diagnosed with peutzjeghers syndrome based on an endoscopic biopsy after vaginal bleeding. Cooccurrence of an adenoma malignum and an endocervical. Peutzjeghers type hamartomatous polyp alexandra deduchova, petr volsansky, filip neumann, radim zalud abstract introduction. In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, pjs is also associated with the development of tumours in various. To clarify the potential for malignancy of peutzjeghers polyposis, we investigated 75 gastrointestinal polyps resected surgically or endoscopically from seven patients with this syndrome. Peutzjeghers syndrome associated with precocious puberty. Peutz jeghers syndrome pjs and juvenile polyposis syndrome jps are rare, autosomal dominantly inherited conditions.
Peutzjeghers syndrome is an autosomal dominant inherited polyposis disorder where diffuse characteristic gastrointestinal polyps, mainly involving the small bowel, coexist with mucocutaneous pigmentation. Cooccurrence of an adenoma malignum and an endocervicaltype. Peutz jeghers syndrome associated with precocious puberty author links open overlay panel m. Loss of lkb1 kinase activity in peutzjeghers syndrome. Thus, as in peutzjeghers syndrome, the esophagus does not seem to be a. Peutzjeghers syndrome pjs is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps.
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. Herve lefevre 1, claire bouvattier 1, najiba lahlou 1, catherine adamsbaum 1, pierre bougneres 1 and jeanclaude carel 1. Peutz jeghers syndrome spj predisposes to cancer, and most originates in the small intestine, rectal colon, stomach and pancreatic adenocarcinoma. The peutzjeghers syndrome pjs is an autosomal dominant polyposis disorder with increased risk of multiple cancers, but literature estimates of risk vary. 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 families unlinked tostk11lkb1 gene mutations. Doubleballoon enteroscopy in the management of patients. Induction of cyclooxygenase2 in a mouse model of peutz.
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 a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. Peutzjeghers families unlinked to stk11lkb1 gene mutations. Solitary duodenal peutzjeghers pjtype hamartomatous polyps are rare and considered a different disease entity than classic pj syndrome. Bowel polyps by doubleballoon enteroscopy in patients with peutzjeghers syndrome. 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. We describe the case of an 89yearold man admitted to our emergency department with symptoms of acute cholangitis, liver dysfunction, and slight jaundice. Introduction peutzjeghers syndrome pjs is an autosomal dominant hereditary disease caused by a germline mutation in the stk11 lkb1 gene, located on chromosome 19p. Peutz jeghers syndrome pjs is an autosomal dominant inherited disease, characterized by multiple gastointestinal gi hamartomatous polyps and mucocutaneous pigmentation 1, 2. Although peutz jeghers syndrome pjs is thought to be associated with an increased pancreatic cancer pc risk, estimates of this risk differ widely. Report of a case combining solitary peutzjeghers polyp. A solitary peutzjeghers type hamartomatous polyp in the duodenum is rare. Prevalence of pjs is estimated from 1 in 8300 to 1 in 280 000 individuals.
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. The estimated incidence of pjs ranges between 1 in 50,000 and 1 in 200,000 live births. Peutzjeghers syndrome pjs is an autosomal dominant inherited disease, characterized by multiple gastointestinal gi hamartomatous polyps and mucocutaneous pigmentation 1, 2. Longterm outcome in patients with a solitary peutz jeghers. Low frequency of somatic mutations in the lkb1peutzjeghers syndrome gene in sporadic breast cancer. Peutzjeghers syndrome spj predisposes to cancer, and most originates in the small intestine, rectal colon, stomach and pancreatic adenocarcinoma.
Mo1208 pancreatic cancer risk in peutzjeghers patients. Overview of peutzjeghers and juvenile polyposis syndromes. Massive intussusception caused by a solitary peutz jeghers. The relative risk of cancer can be 18 times greater. Although 5 patients died of causes unrelated to pjp, the remaining 46werealive as ofthelast scheduled followup. 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. Duodenojejunal intussusception caused by a solitary peutz. 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. To date, patients suffering from this condition have had to undergo frequent laparotomies because of intestinal obstruction by small intestinal polyps. To analyse the time to onset of intussusception in a large series of pjs probands. But many of these cancers can be diagnosed and treated early by testing for anaemia and sensible reporting of unusual lumps and bumps. Recurrent small intestine intussusception in a patient.
Inactivating germline mutations of lkb1 lead to peutzjeghers syndrome pjs. Small bowel intussusception in a pregnant woman with peutz. Pdf peutzjeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished. Peutzjeghers syndrome pjs, also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1200,000 liveborns. Peutz jeghers syndrome is one of the polyposis syndromes. Although peutzjeghers syndrome pjs is thought to be associated with an increased pancreatic cancer pc risk, estimates of this risk differ widely. Peutz jeghers syndrome pjs, also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1200,000 liveborns.
Mutations in lkb1stk11, a gene mapping to chromosome 19p. Peutzjeghers syndrome pjs is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal. 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. Endocrine manifestations in pjs include gynecomastia due to calcified sertoli cell testicular tumors usually referred to as largecell. Stk11 status and intussusception risk in peutzjeghers. Endoscopic polypectomy using doubleballoon enteroscopy is. Peutzjeghers syndrome pjs is a rare autosomal dominant inherited disorder typified by its characteristic mucocutaneous pigmentation and gastrointestinal gi hamartomatous polyposis. Peutzjeghers syndrome with germline mutation of stk11. 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. Germline mutations of the lkb1 gene, also known as stk11, located in the chromosomal region 19p. Adult patients with pjs scheduled for surveillance capsule endoscopy were prospectively recruited and underwent mr enterography and capsule endoscopy. Stk11 mutation status was evaluated in 225 pjs probands and.
Neoplastic transformation arising in peutzjeghers polyposis. This editorial will attempt to give an overview of uptodate knowledge on diagnostic and therapeutic aspects of this disease. 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. Very high risk of cancer in familial peutzjeghers syndrome. The peutz jeghers syndrome is an uncommon autosomic predominant hereditary entity which main characteristics are the mucocutaneous pigmentation, associated to hamartomatosis polyps. The oral lesions were treated using a longpulse 3ms alexandrite 755 nm laser, with good results. There is an increased risk of benign and malignant tumors in the gastrointestinal tract and in extraintestinal tissues.
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