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Peutz-Jeghers syndrome(PJS)

MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Synonyms: Intestinal polyposis-cutaneous pigmentation syndrome; Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; PJS; Polyposis, hamartomatous intestinal; Polyposis, Intestinal, II; Polyps-and-spots syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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).
SNOMED CT: Perioral lentiginosis (54411001); PJS - Peutz-Jehgers syndrome (54411001); Peutz-Jeghers polyposis (54411001); Peutz-Jeghers syndrome (54411001); Periorificial lentiginosis syndrome (54411001)
 
Gene: STK11
Cytogenetic location: 19p13.3
OMIM: 175200

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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Thomas J McGarrity  |  Christopher I Amos  |  Marsha L Frazier, et. al.   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.  http://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Clinical features

Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.
Neoplasm of the pancreas
MedGen UID:
425115
Concept ID:
CN002617
Finding
The presence of a `neoplasm` (MPATH:218) of the `pancreas` (FMA:7198).
Breast carcinoma
MedGen UID:
428324
Concept ID:
CN002714
Finding
The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601).
Hamartomatous polyps
MedGen UID:
505621
Concept ID:
CN003889
Finding
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract.
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
The presence of a `neoplasm` (MPATH:218) of the `stomach` (FMA:7148).
Renal neoplasm
MedGen UID:
506302
Concept ID:
CN008586
Finding
The presence of a `neoplasm` (MPATH:218) of the `kidney` (FMA:7203).
Uterine neoplasm
MedGen UID:
426773
Concept ID:
CN009610
Finding
A `neoplasm` (MPATH:218) of the `uterus` (FMA:17558).
Testicular neoplasm
MedGen UID:
429628
Concept ID:
CN009614
Finding
The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210).
Neoplasm of the breast
MedGen UID:
506444
Concept ID:
CN116912
Finding
A `neoplasm` (MPATH:218) of the `breast` (FMA:9601).
Neoplasm of the lungs
MedGen UID:
506475
Concept ID:
CN117419
Finding
Tumor of the lung.
Biliary tract neoplasm
MedGen UID:
506486
Concept ID:
CN117467
Finding
A `neoplasm` (MPATH:218) of the `biliary system` (FMA:79646).
Ovarian neoplasm
MedGen UID:
506498
Concept ID:
CN117507
Finding
The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209).
Neoplasm of the small intestine
MedGen UID:
452045
Concept ID:
CN117722
Finding
The presence of a `neoplasm` (MPATH:218) of the small intestine.
Ovarian cyst
MedGen UID:
504360
Concept ID:
CN000134
Finding
The presence of one or more `cysts` (MPATH:62) of the `ovary` (FMA:7209).
Renal neoplasm
MedGen UID:
506302
Concept ID:
CN008586
Finding
The presence of a `neoplasm` (MPATH:218) of the `kidney` (FMA:7203).
Uterine neoplasm
MedGen UID:
426773
Concept ID:
CN009610
Finding
A `neoplasm` (MPATH:218) of the `uterus` (FMA:17558).
Testicular neoplasm
MedGen UID:
429628
Concept ID:
CN009614
Finding
The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210).
Ovarian neoplasm
MedGen UID:
506498
Concept ID:
CN117507
Finding
The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209).
Abnormality of the mouth
MedGen UID:
424981
Concept ID:
CN000149
Finding
An abnormality of the `mouth` (FMA:49184).
Nasal polyposis
MedGen UID:
506489
Concept ID:
CN117475
Finding
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
Abnormal pigmentation of the oral mucosa
MedGen UID:
451944
Concept ID:
CN117561
Finding
An abnormality of the pigmentation of the `mucosa of the mouth` (FMA:59660).
Breast carcinoma
MedGen UID:
428324
Concept ID:
CN002714
Finding
The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601).
Neoplasm of the breast
MedGen UID:
506444
Concept ID:
CN116912
Finding
A `neoplasm` (MPATH:218) of the `breast` (FMA:9601).
Clubbing of fingers
MedGen UID:
451999
Concept ID:
CN117649
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.
Biliary tract abnormality
MedGen UID:
504714
Concept ID:
CN001013
Finding
An abnormality of the `biliary tree` (FMA:14665).
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
Pain perceived to originate in the abdomen.
Rectal prolapse
MedGen UID:
505063
Concept ID:
CN001840
Finding
Protrusion of the rectal mucous membrane through the anus.
Gastrointestinal hemorrhage
MedGen UID:
505164
Concept ID:
CN002030
Finding
`Hemorrhage` (MPATH:119) affecting the `gastrointestinal tract` (FMA:71132).
Intussusception
MedGen UID:
505276
Concept ID:
CN002338
Finding
An abnormality of the `intestine` (FMA:7199) in which part of the intestine invaginates (telescopes) into another part of the intestine.
Intestinal bleeding
MedGen UID:
505281
Concept ID:
CN002346
Finding
Bleeding from the intestines.
Neoplasm of the pancreas
MedGen UID:
425115
Concept ID:
CN002617
Finding
The presence of a `neoplasm` (MPATH:218) of the `pancreas` (FMA:7198).
Hamartomatous polyps
MedGen UID:
505621
Concept ID:
CN003889
Finding
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract.
Intestinal obstruction
MedGen UID:
505771
Concept ID:
CN004620
Finding
Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
The presence of a `neoplasm` (MPATH:218) of the `stomach` (FMA:7148).
Biliary tract neoplasm
MedGen UID:
506486
Concept ID:
CN117467
Finding
A `neoplasm` (MPATH:218) of the `biliary system` (FMA:79646).
Neoplasm of the small intestine
MedGen UID:
452045
Concept ID:
CN117722
Finding
The presence of a `neoplasm` (MPATH:218) of the small intestine.
Melanocytic nevus
MedGen UID:
504679
Concept ID:
CN000931
Finding
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Hypermelanotic macule
MedGen UID:
500898
Concept ID:
CN000969
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Abnormality of nail color
MedGen UID:
451931
Concept ID:
CN117535
Finding
An anomaly of the color of the `nail` (FMA:54326).
Gastrointestinal hemorrhage
MedGen UID:
505164
Concept ID:
CN002030
Finding
`Hemorrhage` (MPATH:119) affecting the `gastrointestinal tract` (FMA:71132).
Intestinal bleeding
MedGen UID:
505281
Concept ID:
CN002346
Finding
Bleeding from the intestines.
Gastrointestinal hemorrhage
MedGen UID:
505164
Concept ID:
CN002030
Finding
`Hemorrhage` (MPATH:119) affecting the `gastrointestinal tract` (FMA:71132).
Intestinal bleeding
MedGen UID:
505281
Concept ID:
CN002346
Finding
Bleeding from the intestines.
Neoplasm of the lungs
MedGen UID:
506475
Concept ID:
CN117419
Finding
Tumor of the lung.

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
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Recent clinical studies

Etiology

Tchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, Berrueta J, Nabon N, McGarrity T
PLoS One 2013;8(11):e79639. Epub 2013 Nov 19 doi: 10.1371/journal.pone.0079639. PMID: 24260271Free PMC Article
Zheng B, Pan J, Wang Y, Li M, Lian M, Zheng Y, Jin Y
Dig Dis Sci 2013 Oct;58(10):2868-72. Epub 2013 Jul 27 doi: 10.1007/s10620-013-2737-3. [Epub ahead of print] PMID: 23892522
Vageli DP, Doukas SG, Markou A
Pediatr Blood Cancer 2013 Oct;60(10):E116-7. Epub 2013 May 15 doi: 10.1002/pbc.24579. [Epub ahead of print] PMID: 23677888
Korsse SE, Biermann K, Offerhaus GJ, Wagner A, Dekker E, Mathus-Vliegen EM, Kuipers EJ, van Leerdam ME, van Veelen W
Carcinogenesis 2013 Jul;34(7):1611-9. Epub 2013 Feb 20 doi: 10.1093/carcin/bgt068. [Epub ahead of print] PMID: 23430953
Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M; AIFEG
Dig Liver Dis 2013 Jul;45(7):606-11. Epub 2013 Feb 15 doi: 10.1016/j.dld.2012.12.018. [Epub ahead of print] PMID: 23415580

Diagnosis

Tutar O, Kocak B, Velidedeoglu M, Baca B, Dikici S, Nurili F, Kantarci F
Scott Med J 2014 Feb;59(1):e9-13. Epub 2014 Jan 21 doi: 10.1177/0036933013519028. [Epub ahead of print] PMID: 24448402
Tsai HL, Lin CH, Cheng YL, Huang CW, Wang JY
Med Princ Pract 2014;23(1):89-91. Epub 2013 Sep 3 doi: 10.1159/000351885. [Epub ahead of print] PMID: 24008657
Zaba O, Holbe D, Aretz S, Grohé C
Lung Cancer 2013 Nov;82(2):368-9. Epub 2013 Sep 2 doi: 10.1016/j.lungcan.2013.08.019. [Epub ahead of print] PMID: 24054548
Tse JY, Wu S, Shinagare SA, Lauwers GY, Yilmaz O, Wu CL, Deshpande V
Mod Pathol 2013 Sep;26(9):1235-40. Epub 2013 Apr 19 doi: 10.1038/modpathol.2013.44. [Epub ahead of print] PMID: 23599156
Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M; AIFEG
Dig Liver Dis 2013 Jul;45(7):606-11. Epub 2013 Feb 15 doi: 10.1016/j.dld.2012.12.018. [Epub ahead of print] PMID: 23415580

Therapy

Ferraro GA, Romano T, De Francesco F, Grandone A, D'Andrea F, del Giudice EM, Cataldo C, Gatta G, Di Grezia G, Perrone L, Nicoletti G
Aesthetic Plast Surg 2013 Oct;37(5):1012-22. Epub 2013 Jul 17 doi: 10.1007/s00266-013-0188-z. [Epub ahead of print] PMID: 23860822
Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M; AIFEG
Dig Liver Dis 2013 Jul;45(7):606-11. Epub 2013 Feb 15 doi: 10.1016/j.dld.2012.12.018. [Epub ahead of print] PMID: 23415580
Li Y, Tong X, Yang J, Yang L, Tao J, Tu Y
Photodermatol Photoimmunol Photomed 2012 Aug;28(4):196-9. doi: 10.1111/j.1600-0781.2012.00672.x. PMID: 23017172
Langeveld D, Jansen M, de Boer DV, van Sprundel M, Brosens LA, Morsink FH, Giardiello FM, Offerhaus GJ, de Leng WW
Gut 2012 Jun;61(6):839-46. Epub 2011 Sep 22 doi: 10.1136/gutjnl-2011-300622. [Epub ahead of print] PMID: 21940722Free PMC Article
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Thyroid 2011 Nov;21(11):1273-7. Epub 2011 Aug 30 doi: 10.1089/thy.2011.0063. [Epub ahead of print] PMID: 21877933

Prognosis

Tutar O, Kocak B, Velidedeoglu M, Baca B, Dikici S, Nurili F, Kantarci F
Scott Med J 2014 Feb;59(1):e9-13. Epub 2014 Jan 21 doi: 10.1177/0036933013519028. [Epub ahead of print] PMID: 24448402
Wang HH, Xie NN, Li QY, Hu YQ, Ren JL, Guleng B
Dig Dis Sci 2014 Jan;59(1):64-71. Epub 2013 Oct 24 doi: 10.1007/s10620-013-2875-7. [Epub ahead of print] PMID: 24154639
Zaba O, Holbe D, Aretz S, Grohé C
Lung Cancer 2013 Nov;82(2):368-9. Epub 2013 Sep 2 doi: 10.1016/j.lungcan.2013.08.019. [Epub ahead of print] PMID: 24054548
Tse JY, Wu S, Shinagare SA, Lauwers GY, Yilmaz O, Wu CL, Deshpande V
Mod Pathol 2013 Sep;26(9):1235-40. Epub 2013 Apr 19 doi: 10.1038/modpathol.2013.44. [Epub ahead of print] PMID: 23599156
Eren T, Bayraktar B, Celik Y, Boluk S, Adali G
Surg Today 2012 Nov;42(11):1125-9. Epub 2012 Mar 21 doi: 10.1007/s00595-012-0165-1. [Epub ahead of print] PMID: 22434556

Clinical prediction guides

Tutar O, Kocak B, Velidedeoglu M, Baca B, Dikici S, Nurili F, Kantarci F
Scott Med J 2014 Feb;59(1):e9-13. Epub 2014 Jan 21 doi: 10.1177/0036933013519028. [Epub ahead of print] PMID: 24448402
Ham S, Meachem SJ, Choong CS, Charles AK, Baynam GS, Jones TW, Samarajeewa NU, Simpson ER, Brown KA
J Clin Endocrinol Metab 2013 Dec;98(12):E1979-87. Epub 2013 Sep 13 doi: 10.1210/jc.2013-2291. [Epub ahead of print] PMID: 24037887
Tse JY, Wu S, Shinagare SA, Lauwers GY, Yilmaz O, Wu CL, Deshpande V
Mod Pathol 2013 Sep;26(9):1235-40. Epub 2013 Apr 19 doi: 10.1038/modpathol.2013.44. [Epub ahead of print] PMID: 23599156
Korsse SE, Biermann K, Offerhaus GJ, Wagner A, Dekker E, Mathus-Vliegen EM, Kuipers EJ, van Leerdam ME, van Veelen W
Carcinogenesis 2013 Jul;34(7):1611-9. Epub 2013 Feb 20 doi: 10.1093/carcin/bgt068. [Epub ahead of print] PMID: 23430953
Wangler MF, Chavan R, Hicks MJ, Nuchtern JG, Hegde M, Plon SE, Thompson PA
J Pediatr Hematol Oncol 2013 May;35(4):323-8. doi: 10.1097/MPH.0b013e318282db11. PMID: 23426006Free PMC Article

Recent systematic reviews

Chen XD, Yu YY, Yang L, Rui YY, Zhou ZG
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Latchford A, Greenhalf W, Vitone LJ, Neoptolemos JP, Lancaster GA, Phillips RK
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