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Peutz-Jeghers syndrome(PJS)

MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Synonyms: Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; PJS; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Perioral lentiginosis (54411001); PJS - Peutz-Jehgers syndrome (54411001); Peutz-Jeghers polyposis (54411001); Peutz-Jeghers syndrome (54411001); Periorificial lentiginosis syndrome (54411001)
 
Gene (location): STK11 (19p13.3)
OMIM®: 175200
Orphanet: ORPHA2869

Disease characteristics

Excerpted from the GeneReview: Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated. [from GeneReviews]
Authors:
Thomas J McGarrity  |  Christopher I Amos  |  Maria J Baker   view full author information

Additional descriptions

From OMIM
Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.  http://www.omim.org/entry/175200
From GHR
Peutz-Jeghers 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 Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.  https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Clinical features

Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Precocious puberty with Sertoli cell tumor
MedGen UID:
357406
Concept ID:
C1868007
Finding
Gastrointestinal carcinoma
MedGen UID:
57467
Concept ID:
C0151544
Neoplastic Process
A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.
Hamartomatous polyposis
MedGen UID:
83109
Concept ID:
C0334092
Neoplastic Process
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.
Neoplasm of the pancreas
MedGen UID:
330845
Concept ID:
C1842408
Finding
A tumor (abnormal growth of tissue) of the pancreas.
Precocious puberty with Sertoli cell tumor
MedGen UID:
357406
Concept ID:
C1868007
Finding
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The ovaries are part of the female reproductive system. They produce a woman's eggs and make female hormones. Ovarian cysts are fluid-filled sacs in or on an ovary. They usually form during ovulation, when the ovary releases an egg. They are usually harmless and go away by themselves. Most women have them sometime during their lives. Most ovarian cysts are small and don't cause symptoms. Women may not find out that they have them until they have a pelvic exam. If there are symptoms, they may include. -Pressure. -Bloating. -Swelling. -Pain in the lower abdomen, on the side where the cyst is. If your health care provider finds a cyst, you may be able to wait to see if it gets bigger. You may need surgery if you have pain, are past menopause, or if the cyst does not go away. If a cyst bursts or causes bleeding, you should get medical help right away. Birth control pills can help prevent new cysts. Rarely, ovarian cysts can become cancerous. This risk increases as you get older. A health problem that involves ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods, and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health.
Abnormality of the ureter
MedGen UID:
374455
Concept ID:
C1840382
Finding
An abnormality of the ureter.
Precocious puberty with Sertoli cell tumor
MedGen UID:
357406
Concept ID:
C1868007
Finding
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract.
Intestinal bleeding
MedGen UID:
75632
Concept ID:
C0267373
Finding
Bleeding from the intestines.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Biliary tract abnormality
MedGen UID:
565
Concept ID:
C0005424
Disease or Syndrome
An abnormality of the biliary tree.
Intussusception
MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Gastrointestinal carcinoma
MedGen UID:
57467
Concept ID:
C0151544
Neoplastic Process
A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.
Intestinal bleeding
MedGen UID:
75632
Concept ID:
C0267373
Finding
Bleeding from the intestines.
Hamartomatous polyposis
MedGen UID:
83109
Concept ID:
C0334092
Neoplastic Process
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Neoplasm of the pancreas
MedGen UID:
330845
Concept ID:
C1842408
Finding
A tumor (abnormal growth of tissue) of the pancreas.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Iron deficiency anemia
MedGen UID:
57668
Concept ID:
C0162316
Disease or Syndrome
Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.
Intestinal bleeding
MedGen UID:
75632
Concept ID:
C0267373
Finding
Bleeding from the intestines.
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The ovaries are part of the female reproductive system. They produce a woman's eggs and make female hormones. Ovarian cysts are fluid-filled sacs in or on an ovary. They usually form during ovulation, when the ovary releases an egg. They are usually harmless and go away by themselves. Most women have them sometime during their lives. Most ovarian cysts are small and don't cause symptoms. Women may not find out that they have them until they have a pelvic exam. If there are symptoms, they may include. -Pressure. -Bloating. -Swelling. -Pain in the lower abdomen, on the side where the cyst is. If your health care provider finds a cyst, you may be able to wait to see if it gets bigger. You may need surgery if you have pain, are past menopause, or if the cyst does not go away. If a cyst bursts or causes bleeding, you should get medical help right away. Birth control pills can help prevent new cysts. Rarely, ovarian cysts can become cancerous. This risk increases as you get older. A health problem that involves ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods, and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health.
Abnormality of the ureter
MedGen UID:
374455
Concept ID:
C1840382
Finding
An abnormality of the ureter.
Precocious puberty with Sertoli cell tumor
MedGen UID:
357406
Concept ID:
C1868007
Finding
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract.
Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Finding
Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations.
Hypermelanotic macule
MedGen UID:
375013
Concept ID:
C1842774
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Precocious puberty with Sertoli cell tumor
MedGen UID:
357406
Concept ID:
C1868007
Finding
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Professional guidelines

PubMed

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology.
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Gut 2013 Mar;62(3):339-47. Epub 2012 Nov 7 doi: 10.1136/gutjnl-2012-303108. PMID: 23135763Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Chen HY, Jin XW, Li BR, Zhu M, Li J, Mao GP, Zhang YF, Ning SB
Tumour Biol 2017 Jun;39(6):1010428317705131. doi: 10.1177/1010428317705131. PMID: 28653895
Tan H, Mei L, Huang Y, Yang P, Li H, Peng Y, Chen C, Wei X, Pan Q, Liang D, Wu L
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Zhong ME, Niu BZ, Ji WY, Wu B
World J Gastroenterol 2016 Jun 14;22(22):5293-6. doi: 10.3748/wjg.v22.i22.5293. PMID: 27298573Free PMC Article
Jelsig AM, Qvist N, Sunde L, Brusgaard K, Hansen T, Wikman FP, Nielsen CB, Nielsen IK, Gerdes AM, Bojesen A, Ousager LB
Int J Colorectal Dis 2016 May;31(5):997-1004. Epub 2016 Mar 15 doi: 10.1007/s00384-016-2560-3. PMID: 26979979
Ishida H, Tajima Y, Gonda T, Kumamoto K, Ishibashi K, Iwama T
Surg Today 2016 Nov;46(11):1231-42. Epub 2016 Jan 8 doi: 10.1007/s00595-015-1296-y. PMID: 26746637

Diagnosis

Chen HY, Jin XW, Li BR, Zhu M, Li J, Mao GP, Zhang YF, Ning SB
Tumour Biol 2017 Jun;39(6):1010428317705131. doi: 10.1177/1010428317705131. PMID: 28653895
Duan SX, Wang GH, Zhong J, Ou WH, Fu MX, Wang FS, Ma SH, Li JH
Medicine (Baltimore) 2017 Apr;96(17):e6538. doi: 10.1097/MD.0000000000006538. PMID: 28445255Free PMC Article
Chen JH, Zheng JJ, Guo Q, Liu C, Luo B, Tang SB, Cheng JD, Huang EW
BMC Med Genet 2017 Feb 23;18(1):19. doi: 10.1186/s12881-017-0373-z. PMID: 28231849Free PMC Article
Zhong ME, Niu BZ, Ji WY, Wu B
World J Gastroenterol 2016 Jun 14;22(22):5293-6. doi: 10.3748/wjg.v22.i22.5293. PMID: 27298573Free PMC Article
Jelsig AM, Qvist N, Sunde L, Brusgaard K, Hansen T, Wikman FP, Nielsen CB, Nielsen IK, Gerdes AM, Bojesen A, Ousager LB
Int J Colorectal Dis 2016 May;31(5):997-1004. Epub 2016 Mar 15 doi: 10.1007/s00384-016-2560-3. PMID: 26979979

Therapy

Cano-Contreras AD, Meixueiro-Daza A, Grube-Pagola P, Remes-Troche JM
BMJ Case Rep 2016 Jul 21;2016 doi: 10.1136/bcr-2016-215629. PMID: 27444139
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Prognosis

Jelsig AM, Qvist N, Sunde L, Brusgaard K, Hansen T, Wikman FP, Nielsen CB, Nielsen IK, Gerdes AM, Bojesen A, Ousager LB
Int J Colorectal Dis 2016 May;31(5):997-1004. Epub 2016 Mar 15 doi: 10.1007/s00384-016-2560-3. PMID: 26979979
Shaco-Levy R, Jasperson KW, Martin K, Samadder NJ, Burt RW, Ying J, Bronner MP
Hum Pathol 2016 Mar;49:39-48. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.002. PMID: 26826408
Ishida H, Tajima Y, Gonda T, Kumamoto K, Ishibashi K, Iwama T
Surg Today 2016 Nov;46(11):1231-42. Epub 2016 Jan 8 doi: 10.1007/s00595-015-1296-y. PMID: 26746637
Peng WX, Kure S, Ishino K, Kurose K, Yoneyama K, Wada R, Naito Z
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Clinical prediction guides

Chen C, Zhang X, Wang D, Wang F, Pan J, Wang Z, Liu C, Wu L, Lu H, Li N, Wei J, Shi H, Wan H, Zhu M, Chen S, Zhou Y, Zhou X, Yang L, Liu J
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Peng WX, Kure S, Ishino K, Kurose K, Yoneyama K, Wada R, Naito Z
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Recent systematic reviews

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