Peutz-Jeghers polyp

ポイツ・ジェガース症候群

WordNet

1. a small vascular growth on the surface of a mucous membrane (同)polypus
2. one of two forms that coelenterates take (e.g. a hydra or coral): usually sedentary with a hollow cylindrical body usually with a ring of tentacles around the mouth; "in some species of coelenterate, polyps are a phase in the life cycle that alternates with a medusoid phase"

PrepTutorEJDIC

1. ポリプ(ヒドラ,イソギンチャクなどの生物)・ポリープ(鼻などの粘膜にできるおでき)
2. =polytechnic
3. 《話》政治家

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/11/29 21:24:35」(JST)

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Peutz-Jeghers syndrome
Classification and external resources
Micrograph of Peutz-Jeghers type colonic polyp. H&E stain.
ICD-10	Q85.8
ICD-9	759.6
OMIM	175200
DiseasesDB	9905
MedlinePlus	000244
eMedicine	med/1807 article/182006article/1664349
MeSH	D010580
GeneReviews	Peutz-Jeghers Syndrome

Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. Peutz–Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births

Diagnosis

The main criteria for clinical diagnosis are:

• Family history
• Mucocutaneous lesions causing patches of hyperpigmentation in the mouth and on the hands and feet. The oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis. Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek. The mucosa of the lower lip is almost invariably involved as well.
• Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with an extraordinarily low potential for malignancy.

Having 2 of the 3 listed clinical criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as Addison's disease and McCune-Albright syndrome, and these should be included in the differential diagnosis. 90-100% of patients with a clinical diagnosis of PJS have a mutation in the STK11/LKB1 gene. Molecular genetic testing for this mutation is available clinically.

Natural history

Most people with Peutz-Jeghers syndrome will have developed some form of neoplastic disease by age 60

Most patients will develop flat, brownish spots (melanotic macules) on the skin, especially on the lips and oral mucosa, during the first year of life, and a patient’s first bowel obstruction due to intussusception usually occurs between the ages of six and 18 years. The cumulative lifetime cancer risk begins to rise in middle age. Cumulative risks by age 70 for all cancers, gastrointestinal (GI) cancers, and pancreatic cancer are 85%, 57%, and 11%, respectively.

Genetics

In 1998, a gene was found to be associated with the mutation. On chromosome 19, the gene known as STK11 (LKB1) is a possible tumor suppressor gene. It is inherited in an autosomal-dominant pattern (see Mendelian inheritance) which means that anyone who has PJS has a 50% chance of passing it onto their children, assuming that their spouse does not have the disease.

Limited evidence base

Peutz–Jeghers syndrome is rare and studies typically include only a small number of patients. Even in those few studies that do contain a large number of patients, the quality of the evidence is limited due to pooling patients from many centers, selection bias (only patients with health problems coming from treatment are included), and historical bias (the patients reported are from a time before advances in the diagnosis of treatment of Peutz–Jeghers syndrome were made). Probably due to this limited evidence base, cancer risk estimates for Peutz–Jeghers syndrome vary from study to study.

Presentation

The risks associated with this syndrome include a strong tendency of developing cancer in multiple sites. While the hamartomatous polyps themselves only have a small malignant potential (<3% - OHCM), patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus, testicles and other organs.

The average age of first diagnosis is 23, but the lesions can be identified at birth by an astute pediatrician. Prior to puberty, the mucocutaneous lesions can be found on the palms and soles. Often the first presentation is as a bowel obstruction from an intussusception which is a common cause of mortality; an intussusception is a telescoping of one loop of bowel into another segment.

Cancer screening

Barium enema radiograph showing multiple polyps (mostly pedunculated) and at least one large mass at the hepatic flexure coated with contrast in a patient with Peutz–Jeghers syndrome.

Some suggestions for surveillance for cancer include the following:

• Small intestine with small bowel radiography every 2 years,
• Esophagogastroduodenoscopy and colonoscopy every 2 years,
• CT scan or MRI of the pancreas yearly,
• Ultrasound of the pelvis (women) and testes (men) yearly,
• Mammography (women) from age 25 annually livelong, and
• Papanicolaou (Pap) test every year

Follow-up care should be supervised by a physician familiar with Peutz–Jeghers syndrome. Genetic consultation and counseling as well as urological and gynecological consultations are often needed.

See also

• List of cutaneous conditions
• Sex cord tumour with annular tubules

References

External links

• GeneReviews/NCBI/NIH/UW entry on Peutz-Jeghers syndrome
• Peutz-Jeghers syndrome - Genetics Home Reference

UpToDate Contents

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• 1. ポイツ・イェガース症候群および若年性ポリポーシス：患者および家族のスクリーニングおよびマネージメント peutz jeghers syndrome and juvenile polyposis screening and management of patients and families
• 2. 大腸ポリープ患者に対するアプローチ approach to the patient with colonic polyps
• 3. ポイツ・イェガース症候群：疫学、臨床症状、および診断 peutz jeghers syndrome epidemiology clinical manifestations and diagnosis
• 4. 色素沈着過剰を有する患者へのアプローチ approach to the patient with hyperpigmentation disorders
• 5. 手掌および足底の色素性病変のダーモスコピー dermoscopy of pigmented lesions of the palms and soles

English Journal

• Intussusception in traditional pediatric, nontraditional pediatric, and adult patients.

• Cochran AA, Higgins GL 3rd, Strout TD.AbstractSTUDY OBJECTIVES: We sought to determine the rate of intussusception in 3 age groups (traditional pediatric-age [T], nontraditional pediatric-age [N], and adult-age [A]) and to compare group characteristics.
• The American journal of emergency medicine." abstractLink="yes" alsec="jour" alterm="Am J Emerg Med.2011 Jun;29(5):523-7. Epub 2010 Apr 2.
• PMID 20825824

• Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position.

• Maccioni F, Al Ansari N, Mazzamurro F, Barchetti F, Marini M.SourceDepartment of Radiological Sciences, University of Rome, Rome, Italy, francesca.maccioni@uniroma1.it.
• Abdominal imaging." abstractLink="yes" alsec="jour" alterm="Abdom Imaging.2011 May 3. [Epub ahead of print]
• PMID 21538021

Japanese Journal

• 消化管出血を契機に発見され, バルーン小腸鏡にて切除した十二指腸孤立性 Peutz-Jeghers 型ポリープの1例

• 小林 知樹,桑井 寿雄,木村 治紀,山本 宗平,柾木 慶一,平田 真由子,山口 厚,河野 博孝,倉岡 和矢,谷山 清己,高野 弘嗣
• 日本消化器内視鏡学会雑誌 = Gastroenterological endoscopy 54(7), 2014-2021, 2012-07-20
• NAID 10030961676

• ダブルバルーン法を用いた小腸内視鏡にてポリープ切除を施行したPeutz-Jeghers症候群の7歳女児の1例

• 中竹 利知,濱田 吉則,高田 晃平 [他],荒木 吉朗,矢内 洋次,三木 博和,岩井 愛子,權 雅憲
• 日本小児外科学会雑誌 48(4), 738-742, 2012-06-20
• … 症例は7歳の女児.家族歴は父がPeutz-Jeghers症候群.無熱性痙攣後も嘔吐が持続し腹部超音波検査で,ポリープによる腸重積症と診断され,ポリープ切除の目的で当科に紹介された.ダブルバルーン法による小腸内視鏡(Double Balloon Enteroscopy; …
• NAID 110009470928

Related Links

• Peutz–Jeghers syndrome - Wikipedia, the free encyclopedia

Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and ...

• Peutz-Jeghers Syndrome - Medscape Reference

20 Sep 2011 ... Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition. Patients ...

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Peutz-Jeghers syndrome, PJS

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ポイツ・イェガース症候群 ポイツ・イェガー症候群 Peutz-Jeghers症候群、過誤腫性大腸ポリポーシス、口唇掌蹠母斑腸管ポリポーシス

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Peutz-Jeghers polyp Peutz-Jeghers polyps

大腸ポリポーシス、消化管ポリポーシス、神経皮膚症候群、母斑症

• familial polyposis syndrome

• familial adenomatous polyposis：APC gene
• Peutz-Jeghers syndrome：LKB1 gene
• Cowden syndrome：PTEN gene

概念

• 口唇の黒褐色色素沈着と消化管ポリープを主徴とする症候群。

病型

• 孤発性
• 遺伝性(30%の症例?)

病因

• germ-line mutations in the LKB1 gene
• 遺伝子変異：19p13.3 STK11, LKB1

疫学

• 発症は幼児期。
• 性差なし

遺伝形式

• 常染色体優性遺伝

• 大腸腺腫症ほど濃厚な家族内発生はみられない。

病理

• 過誤腫性ポリープ：粘膜筋板の樹枝状増生、腺管の延長と増生など。樹枝状に分枝してており、ポリープの茎が太いため腸重積をきたしやすい。

症状

• 初発症状：口唇色素沈着、腹痛、消化管出血、腸重積
• 皮膚粘膜症状

• 黒褐色の色素沈着：口唇、口腔粘膜、指趾、足底など

• 色素沈着は表皮基底層におけるメラニン細胞の増殖とメラニン色素沈着による。思春期以降は退色。

• 消化管

• ポリポーシス：過誤腫性ポリープ hamartomatous polyp
• 食道を除く全消化管。小腸に好発(70%)。

合併症

• 腸重積
• 悪性腫瘍：

• 消化管、皮膚、卵巣、子宮。ポリープ自体の癌化率は低いが、消化器、性腺など他の部位の癌化率は高い(QB.A-398)。
• 一生涯の腫瘍発生率は37-93%、相対危険度は10-18。悪性腫瘍が派生する平均年齢は42歳。好発部位は結直腸癌、乳癌、胃癌、小腸癌、膵癌の順に多い。(1644人の患者を対象とした20のコホート研究のシステミックレビューによる)(参考1)

治療

手術療法

• 適応：ポリープが原因により出血、イレウスをきたした場合。腺腫合併例や癌化例。

予後

• 大腸に生じたものは癌化しやすい
• a benign polyposis syndrome is not a risk factor for colorectal cancer (first aid step1 2006 p.277)
• 消化管外の悪性腫瘍の発生リスクが上昇する

参考

• 1. PEUTZ-JEGHERS SYNDROME; PJS - OMIM

http://omim.org/entry/175200

• 2. [charged] Overview of Peutz-Jeghers syndrome - uptodate [1]
• 3. [charged] Peutz-Jeghers syndrome and juvenile polyposis: Screening and management of patients and families - uptodate [2]

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