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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
SNOMED CT: Perioral lentiginosis (54411001); Peutz-Jeghers polyposis (54411001); PJS - Peutz-Jeghers syndrome (54411001); Peutz-Jeghers syndrome (54411001); Periorificial lentiginosis syndrome (54411001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): STK11 (19p13.3)
 
Monarch Initiative: MONDO:0008280
OMIM®: 175200
Orphanet: ORPHA2869

Disease characteristics

Excerpted from the GeneReview: Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: 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. GI polyps can result in chronic bleeding, anemia, and 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. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS 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 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 MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Neoplasm of the pancreas
MedGen UID:
18279
Concept ID:
C0030297
Neoplastic Process
A tumor (abnormal growth of tissue) of the pancreas.
Neoplasm of uterus
MedGen UID:
12030
Concept ID:
C0042138
Neoplastic Process
A tumor (abnormal growth of tissue) of the uterus.
Precocious puberty with Sertoli cell tumor
MedGen UID:
357406
Concept ID:
C1868007
Finding
Hamartomatous polyposis
MedGen UID:
474435
Concept ID:
C3272802
Disease or Syndrome
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.
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The presence of one or more cysts of the ovary.
Bladder polyp
MedGen UID:
107952
Concept ID:
C0586737
Neoplastic Process
An abnormal growth that projects from the mucous membrane of the urinary bladder.
Abnormality of the ureter
MedGen UID:
374455
Concept ID:
C1840382
Finding
An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Intussusception
MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
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.
Bloody diarrhea
MedGen UID:
56232
Concept ID:
C0151594
Disease or Syndrome
Passage of many stools containing blood.
Gastric polyposis
MedGen UID:
68629
Concept ID:
C0236048
Disease or Syndrome
A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).
Intestinal bleeding
MedGen UID:
75632
Concept ID:
C0267373
Finding
Bleeding from the intestines.
Biliary tract abnormality
MedGen UID:
108201
Concept ID:
C0549613
Finding
An abnormality of the biliary tree.
Bile duct polyp
MedGen UID:
1815091
Concept ID:
C5706185
Anatomical Abnormality
An elevated growth from the the mucosa of the bile duct.
Iron deficiency anemia
MedGen UID:
57668
Concept ID:
C0162316
Disease or Syndrome
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Anatomical Abnormality
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.
Oral melanotic macule
MedGen UID:
1690341
Concept ID:
C5139352
Finding
Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.
Labial melanotic macule
MedGen UID:
1686062
Concept ID:
C5229936
Disease or Syndrome
Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.
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.
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

Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K, Kawasaki Y, Saida Y, Sano Y, Takeuchi Y, Tajika M, Nakajima T, Banno K, Funasaka Y, Hori S, Yamaguchi T, Yoshida T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y
Digestion 2023;104(5):335-347. Epub 2023 Apr 13 doi: 10.1159/000529799. PMID: 37054692
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

Suggested Reading

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Etiology

Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K, Kawasaki Y, Saida Y, Sano Y, Takeuchi Y, Tajika M, Nakajima T, Banno K, Funasaka Y, Hori S, Yamaguchi T, Yoshida T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y
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Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

Diagnosis

Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K, Kawasaki Y, Saida Y, Sano Y, Takeuchi Y, Tajika M, Nakajima T, Banno K, Funasaka Y, Hori S, Yamaguchi T, Yoshida T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y
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Sato E, Goto T, Honda H
JAMA Dermatol 2022 Nov 1;158(11):1316. doi: 10.1001/jamadermatol.2022.3979. PMID: 36197686
Tacheci I, Kopacova M, Bures J
Curr Opin Gastroenterol 2021 May 1;37(3):245-254. doi: 10.1097/MOG.0000000000000718. PMID: 33591027
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

Therapy

Medeiros YL, Faria LV, Chandretti PCS, Mainenti P
Dermatol Ther 2022 Jul;35(7):e15519. Epub 2022 Apr 20 doi: 10.1111/dth.15519. PMID: 35426222
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Daniell J, Plazzer JP, Perera A, Macrae F
Fam Cancer 2018 Jul;17(3):421-427. doi: 10.1007/s10689-017-0037-3. PMID: 28900777
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Dig Dis 2008;26(4):309-13. Epub 2009 Jan 30 doi: 10.1159/000177014. PMID: 19188720

Prognosis

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
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Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
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Lehmann AR, McGibbon D, Stefanini M
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Clinical prediction guides

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
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Jasperson KW, Tuohy TM, Neklason DW, Burt RW
Gastroenterology 2010 Jun;138(6):2044-58. doi: 10.1053/j.gastro.2010.01.054. PMID: 20420945Free PMC Article

Recent systematic reviews

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Chen XD, Yu YY, Yang L, Rui YY, Zhou ZG
Eur J Gastroenterol Hepatol 2012 Jun;24(6):722-6. doi: 10.1097/MEG.0b013e328351c1df. PMID: 22356785
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Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245
van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME
Am J Gastroenterol 2010 Jun;105(6):1258-64; author reply 1265. Epub 2010 Jan 5 doi: 10.1038/ajg.2009.725. PMID: 20051941

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