Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (817 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A hereditary disease caused by autosomal dominant mutations involving chromosome 19. It is characterized by the presence of intestinal polyps, consistently in the jejunum, and mucocutaneous pigmentation with melanin spots of the lips, buccal mucosa, and digits.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Peutz Jeghers Syndrome; Syndrome, Peutz-Jeghers; Lentiginosis, Perioral; Lentiginoses, Perioral; Perioral Lentiginoses; Perioral Lentiginosis; Polyposis, Hamartomatous Intestinal; Hamartomatous Intestinal Polyposes.
Where it fits in the MeSH classification
- Broader topics
- Neoplastic Syndromes, Hereditary; Intestinal Polyposis; Lentigo
Related concepts
- Chromosomes
- Intestinal Polyps
- Jejunum
- Melanin
- Mucous Membrane
Research landscape
PubMed indexes 2,129 records tagged with the MeSH heading “Peutz-Jeghers Syndrome” (counts retrieved 2026-10-29). 224 of them (10.5%) were published from 2020 onward, and the busiest period so far is through 1999 with 970 records.
Reviews account for 384 records (18.0%) and meta-analyses for 3. Randomized controlled trials number 0 (0.0%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 970 |
| 2000-2009 | 488 |
| 2010-2019 | 447 |
| 2020 onward | 224 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 384 | 18.0% |
| Meta-analyses | 3 | 0.1% |
| Randomized controlled trials | 0 | 0.0% |
Method: PubMed query "Peutz-Jeghers Syndrome"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome | 2003 | Research article Design not recorded in structured metadata | 100 | cc by PMID 12865922 · DOI · PMC2394252 |
| Recent progress on liver kinase B1 (LKB1): expression, regulation, downstream signaling and cancer suppressive function | 2014 | Review article Design not recorded in structured metadata | 58 | cc by PMID 25244018 · DOI · PMC4200829 |
| Hamartomatous polyposis syndromes: a review | 2014 | Review article Design not recorded in structured metadata | 55 | cc by PMID 25022750 · DOI · PMC4112971 |
| Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening? | 2026 | Review article Design not recorded in structured metadata | 0 | cc by PMID 42397638 · DOI · PMC13331894 |
Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz-Jeghers syndrome (PJS), a rare dominant disorder.
- Closing excerpt
- To obtain precise estimates of risk associated with PJS requires further studies of genotype-phenotype especially with respect to LKB1/STK11 negative cases, as this group is likely to be heterogeneous.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (188 words)
Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz-Jeghers syndrome (PJS), a rare dominant disorder. In addition to typical hamartomatous gastrointestinal polyps and pigmented perioral lesions, PJS is associated with an increased risk of tumours at multiple sites. Follow-up information on carriers is limited and genetic heterogeneity makes counselling and management in PJS difficult. Here we report the analysis of the LKB1/STK11 locus in a series of 33 PJS families, and estimation of cancer risks in carriers and noncarriers. Germline mutations of LKB1/STK11 were identified in 52% of cases. This observation reinforces the hypothesis of a second PJS locus. In carriers of LKB1/STK11 mutations, the risk of cancer was markedly elevated. The risk of developing any cancer in carriers by age 65 years was 47% (95% CI: 27-73%) with elevated risks of both gastrointestinal and breast cancer. PJS with germline mutations in LKB1/STK11 are at a very high relative and absolute risk of multiple gastrointestinal and nongastrointestinal cancers. To obtain precise estimates of risk associated with PJS requires further studies of genotype-phenotype especially with respect to LKB1/STK11 negative cases, as this group is likely to be heterogeneous.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 12865922 · DOI · PMC2394252
Recent progress on liver kinase B1 (LKB1): expression, regulation, downstream signaling and cancer suppressive function [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Liver kinase B1 (LKB1), known as a serine/threonine kinase, has been identified as a critical cancer suppressor in many cancer cells.
- Closing excerpt
- This review, therefore, mainly discusses recent studies about the expression, regulation, downstream signaling and cancer suppressive function of LKB1, which can be helpful for better understanding of this molecular and its significance in cancers.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (138 words)
Liver kinase B1 (LKB1), known as a serine/threonine kinase, has been identified as a critical cancer suppressor in many cancer cells. It is a master upstream kinase of 13 AMP-activated protein kinase (AMPK)-related protein kinases, and possesses versatile biological functions. LKB1 gene is mutated in many cancers, and its protein can form different protein complexes with different cellular localizations in various cell types. The expression of LKB1 can be regulated through epigenetic modification, transcriptional regulation and post-translational modification. LKB1 dowcnstream pathways mainly include AMPK, microtubule affinity regulating kinase (MARK), salt-inducible kinase (SIK), sucrose non-fermenting protein-related kinase (SNRK) and brain selective kinase (BRSK) signalings, etc. This review, therefore, mainly discusses recent studies about the expression, regulation, downstream signaling and cancer suppressive function of LKB1, which can be helpful for better understanding of this molecular and its significance in cancers.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 25244018 · DOI · PMC4200829
Hamartomatous polyposis syndromes: a review [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome.
- Closing excerpt
- intestinal cancer or breast cancer.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (233 words)
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 25022750 · DOI · PMC4112971
Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening? [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Peutz-Jeghers Syndrome (PJS) is caused by germline pathogenic variants in the STK11 gene and is associated with elevated lifetime risks for several cancers, including lung cancer.
- Closing excerpt
- Given their elevated lifetime risk, individuals with PJS may be candidates for LDCT for lung cancer screening and should be formally studied to elucidate the risks, benefits, and optimal implementation in this patient population.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (258 words)
Peutz-Jeghers Syndrome (PJS) is caused by germline pathogenic variants in the STK11 gene and is associated with elevated lifetime risks for several cancers, including lung cancer. Currently, no formal recommendations exist for lung cancer screening in PJS. This structured narrative review compares lung cancer risk in PJS with lung cancer risk in individuals currently eligible for screening based on age and smoking history. PubMed and Web of Science were searched from 1/1/1980 to 9/11/2023 using the terms "Peutz-Jeghers Syndrome" AND "Cancer." Studies reporting lung cancer risk in PJS were included. Reported lung cancer risks were compared to 5-year, 10-year, and lifetime lung cancer risks in the general population based on age and pack-years of smoking. Seventeen studies were included. Across the studies, the incidence of lung cancer ranged from 0.8 to 13.3%. Studies that included lung cancer risk relative to the general population reported a relative risk range of 2.9-22.9. Cumulative risk was reported in 5 studies and surpassed 5% by age 60 (range 7 to 17%). Guidelines for low-dose CT (LDCT) lung cancer screening for individuals aged 50-80 with a smoking history of at least 20 pack-years are associated with a similar or higher threshold for lung cancer risk. The lifetime lung cancer risk for individuals with PJS is similar to current guideline-based risk thresholds for screening based on age and smoking status. Given their elevated lifetime risk, individuals with PJS may be candidates for LDCT for lung cancer screening and should be formally studied to elucidate the risks, benefits, and optimal implementation in this patient population.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42397638 · DOI · PMC13331894
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes [5]
- Research article Very high risk of cancer in familial Peutz-Jeghers syndrome [6]
- Research article LKB1-dependent signaling pathways [7]
- Research article Peutz-Jeghers syndrome: a systematic review and recommendations for management [8]
- Research article High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations [9]
- Research article Peutz-Jeghers syndrome and management recommendations [10]
References
- Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, et al.. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. . 2003. PMID 12865922 · DOI · PMC2394252
- Gan RY, Li HB. Recent progress on liver kinase B1 (LKB1): expression, regulation, downstream signaling and cancer suppressive function. . 2014. PMID 25244018 · DOI · PMC4200829
- Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB. Hamartomatous polyposis syndromes: a review. . 2014. PMID 25022750 · DOI · PMC4112971
- Shareef F, Konjeti M, Gupta S, Weiss JM. Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening?. . 2026. PMID 42397638 · DOI · PMC13331894
- Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW, et al.. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015. PMID 25645574 · DOI · PMC4695986
- Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al.. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000. PMID 11113065 · DOI
- Alessi DR, Sakamoto K, Bayascas JR. LKB1-dependent signaling pathways. Annu Rev Biochem. 2006. PMID 16756488 · DOI
- Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, et al.. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010. PMID 20581245 · DOI
- van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010. PMID 20051941 · DOI
- Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006. PMID 16616343 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.