Peutz-Jeghers SyndromeNCT07889596
Chinese Multicenter Registry for Peutz-Jeghers Syndrome
An observational study of Peutz-Jeghers Syndrome, run by First People's Hospital of Hangzhou at 9 sites in China.
Trial summary
This prospective, observational patient registry will enroll approximately 1,000 individuals with a clinical or molecular diagnosis of Peutz-Jeghers syndrome (PJS) at participating hospitals in China. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Peutz-Jeghers Syndrome
- How many people
- 1,000 participants
- Where
- 9 sitesChina
- Study dates
- Oct 2026to Oct 2056
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a confirmed clinical or molecular diagnosis of PJS who receive care at participating centers in China. Recruitment will be consecutive where feasible. Previous cancer does not preclude registry enrollment. Diagnostically unconfirmed relatives are not independently enrolled under this version. Relatives who independently meet clinical or molecular diagnostic criteria may enroll with separate consent and a unique individual identifier linked to a pedigree.
Who may be able to join
- A clinical diagnosis of PJS meeting at least one of the following: two or more histologically confirmed Peutz-Jeghers polyps; any number of Peutz-Jeghers polyps and a family history of PJS; characteristic mucocutaneous pigmentation and a family history of PJS; or any number of Peutz-Jeghers polyps together with characteristic mucocutaneous pigmentation. Alternatively, a molecular diagnosis established by a confirmed germline pathogenic or likely pathogenic STK11 variant associated with PJS, interpreted by appropriately qualified professionals.
- Valid written informed consent for the core clinical registry from the participant or the legally appropriate guardian, with age- and capacity-appropriate information and assent when applicable.
- Minimum clinical or genetic documentation sufficient to confirm eligibility and agreement to at least one feasible method of longitudinal contact or record-based follow-up within the approved consent.
- Biospecimen donation, availability of all specimen types, and participation in research sequencing or organoid experiments are not required for clinical registry enrollment.
Who cannot join
- Neither the clinical nor molecular diagnostic pathway can be confirmed. A variant of uncertain significance alone does not satisfy molecular eligibility.
- Absence of valid consent for the core registry. Duplicate records of the same individual will be merged rather than counted as additional participants. Inability or refusal to undergo an optional sample procedure is not a registry exclusion criterion. Procedure-specific safety restrictions affect that procedure only.
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
9 sites in 1 country
China9 sites
Peking University Third Hospital
Beijing
Congrong Liu, +86 13651215671, congrong_liu@163.com
Fujian Maternity and Child Health Care Hospital
Fuzhou, Fujian
Huan Yi, +86 15960103922, yi.huan@fjmu.edu.cn
Sun Yat-sen University Cancer Center
Guangzhou, Guangdong
Yanling Feng, +86 13925090579, fengyl@sysucc.org.cn
First People's Hospital of Hangzhou
Hangzhou, Zhejiang
Yu Kang, +86 19560161853, kangyu@hospital.westlake.edu.cn
Zhejiang Cancer Hospital
Hangzhou, Zhejiang
Qiang Wen, +86 13857105097, wenqiang@zjcc.org.cn
Qilu Hospital of Shandong University
Jinan, Shandong
Peng Li, +86 18560082010, peng_li2002@163.com
Fudan University Shanghai Cancer Center
Shanghai
Yanyun Li, +86 13601903229, liyanyun@fudan.edu.cn
Obstetrics & Gynecology Hospital of Fudan University
Shanghai
Jing Xu, +86 18817301819, doctor_xj@163.com
The Second Hospital of Tianjin Medical University
Tianjin
Haitao Wang, +86 18630955984, peterrock2000@126.com
About this study
This prospective, observational patient registry will enroll approximately 1,000 individuals with a clinical or molecular diagnosis of Peutz-Jeghers syndrome (PJS) at participating hospitals in China. The registry will collect standardized clinical information, existing genetic test reports, family history, and longitudinal outcomes. The primary objective is to estimate the 10-year cumulative incidence of a first invasive malignancy after enrollment among participants without a previous malignancy or an unresolved suspected malignancy at baseline, accounting for death as a competing event. Secondary objectives address organ-specific malignancies, new primary cancers in participants with a cancer history, mortality, major polyp-related complications, and clinical and STK11 variant characteristics. Participants may be followed for up to 20 years. Biospecimen donation, additional baseline sampling, research sequencing, and patient-derived organoid studies are optional and require the corresponding consent. Refusal of an optional component does not preclude participation in the clinical registry. No treatment or clinical surveillance strategy is assigned by the study.
Read the detailed description
Peutz-Jeghers syndrome is a rare inherited tumor-predisposition syndrome associated with gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and increased risks of several malignancies. This multicenter registry will document the clinical course of enrolled patients receiving usual care and will support carefully defined genotype-phenotype and translational research. It is a hospital-based, non-probability sample and is not designed to provide a probability-representative estimate for the entire Chinese PJS population.
The purpose of this study is to establish a nationwide multicenter registry of patients with PJS, integrating standardized clinical information, existing genetic reports, optional biospecimen studies and prospective follow-up. The primary objective is to estimate 10-year cumulative incidence of a first invasive malignancy among participants without previous or unresolved suspected malignancy at baseline. The study will support defined genotype-phenotype and translational analyses; it does not assign treatment or clinical surveillance.
Specific study objectives are listed below:
- Establish a standardized PJS clinical database to define the clinical characteristics and natural history of the disease in Chinese patients.
- Analyze the landscape of STK11 gene variants and the relationship between genotype and clinical phenotype.
- Establish an optional biobank of patients with PJS, using separately consented specimens, to provide resources for approved research.
- Establish separately consented patient-derived organoid models to investigate disease mechanisms and in vitro drug responses without directing patient treatment.
- Explore the development of a precision management system. The workflow includes consecutive recruitment, diagnostic confirmation, core registry consent, baseline clinical-data abstraction, prospective follow-up and outcome review. Biospecimen collection, research sequencing and organoid studies are optional components; refusal does not preclude enrollment.
The registry will implement standardized baseline clinical-data abstraction, prospective follow-up and outcome review, with historical medical information will be abstracted at baseline and distinguished from prospectively observed events. All eligible, consenting participants contribute to the clinical registry. Participants will be contacted approximately every 12 months through routine visits, telephone, or institution-approved remote methods. Clinical and genetic associations will account for family relationships, recruitment pathway, center, and relevant prespecified covariates. STK11 germline variants will be classified using the ACMG/AMP framework and applicable subsequent guidance, with the reference sequence, testing scope, evidence, and interpretation date documented. Germline and tumor-only findings will be distinguished. Untested participants, participants with limited testing, those with variants of uncertain significance, and those with adequately evaluated negative findings will not be combined into a single wild-type group.
The primary analysis will estimate the cumulative incidence function at 10 years using an Aalen-Johansen approach, with uncertainty accounting for family clustering when supported by the data. Attained-age analyses will use delayed entry at enrollment and will not treat the period before enrollment as prospectively observed person-time. Optional biospecimen studies prioritize clinical residual material. No research-only tissue biopsy or enlargement of a clinical resection is permitted.Research sequencing, multi-omics, and patient-derived organoid or tumor-organoid studies will be performed only in authorized, suitable subsets. Laboratory and analytical methods will distinguish biological participants from repeated specimens or culture wells. Predictive biomarker analyses require pre-outcome specimens and family-separated validation. Research findings will not direct clinical treatment; clinically meaningful findings considered for return require appropriate confirmation, counseling, and the participant's documented preference.
- Conditions
- Peutz-Jeghers Syndrome
- Keywords
- STK11, LKB1, hereditary cancer, patient registry, genotype-phenotype association, biospecimen bank, patient-derived organoids
- Medical subject headings
- Peutz-Jeghers Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Peutz-Jeghers syndrome | Individuals meeting protocol-defined clinical diagnostic criteria or carrying a confirmed germline pathogenic or likely pathogenic STK11 variant associated with PJS. Participants with and without previous cancer may enroll. Optional biospecimen and genetic components do not determine clinical registry eligibility. |
What is being measured
The primary outcome is the main question the study is designed to answer.
10-year cumulative incidence of a first invasive malignancy
Time from registry enrollment to the first confirmed invasive malignant neoplasm among participants with no previous malignancy and no unresolved suspected malignancy at baseline. Pathology will be the preferred evidence for solid tumors; hematologic malignancies will follow the relevant diagnostic criteria. Benign lesions, in situ disease, recurrence, progression, and metastases from an existing primary are excluded from this endpoint. The cumulative incidence at 10 years will be estimated with death before malignancy as a competing event. Participants with previous malignancy are not included in this primary risk set.
Measured: From enrollment to 10 years after enrollment, first invasive malignancy, death, withdrawal, or last reliable event-free assessment, as applicable.
Secondary outcomes (8)
Organ-specific cumulative incidence of a new primary invasive malignancy
First new primary invasive malignancy at each specified organ site, analyzed separately among participants without a previous malignancy at that site and with the relevant organ at risk at baseline. Site and histologic type will be recorded. Death and removal of the at-risk organ without target cancer will be handled according to the prespecified competing-risk or multistate analysis. In situ disease and metastases will not be counted as new primary invasive cancers.
Measured: From enrollment up to 20 years; estimates at 5, 10, and 20 years where supported.
Cumulative incidence of a subsequent new primary invasive malignancy in participants with a cancer history
Time from enrollment to the next confirmed new primary invasive malignancy among participants with a malignancy diagnosed before enrollment. New primary disease will be distinguished by clinical review from recurrence, progression, and metastasis of an existing cancer. Death before a subsequent primary cancer is a competing event.
Measured: From enrollment up to 20 years.
All-cause mortality
Time from enrollment to death from any cause among all enrolled participants. Death dates and evidence sources will be recorded. Participants not known to have died will be censored at the last date on which they were known to be alive or the applicable end of follow-up. Survival probabilities and death rates will be reported.
Measured: From enrollment up to 20 years; summaries at 5, 10, and 20 years where supported.
Cumulative incidence of cancer-related death
Time from enrollment to death attributed to malignancy, based on available medical records, death documentation, and outcome review. Non-cancer death is a competing event. Deaths of uncertain cause will be recorded separately and included in sensitivity analyses.
Measured: From enrollment up to 20 years.
Cumulative incidence of a first major polyp-related complication
Time from enrollment to the first episode of intussusception, bowel obstruction, or gastrointestinal bleeding that results in hospitalization, emergency surgery or endoscopic treatment, or transfusion. Preventive polypectomy without an acute complication is excluded. Repeat episodes and the individual components will also be documented and summarized separately.
Measured: From enrollment up to 20 years.
Age at clinical diagnosis of PJS
Age, in years, when the participant first met documented clinical diagnostic criteria for PJS. The evidence source and precision of the date will be recorded. Median, interquartile range, and the number with available information will be reported; molecularly ascertained participants without a clinical diagnosis will be identified separately.
Measured: At enrollment, using available historical records.
Baseline gastrointestinal polyp involvement by anatomical site
Number and proportion of participants with documented PJS-related polyps in each gastrointestinal site before or at baseline, with sites reported separately. Each proportion will use the number with sufficient information for that site as its denominator; unassessed or unknown sites will not be coded as negative.
Measured: At enrollment, using available historical and baseline records.
Distribution of documented STK11 germline variant classifications and variant types
Counts and proportions of participants and independent families by STK11 germline variant classification and predefined variant type. Testing method, scope, and interpretation date will be documented. Pathogenic/likely pathogenic findings, variants of uncertain significance, adequately assessed negative findings, limited testing, and no testing will be reported separately. Genotype-phenotype association analyses use the clinical endpoints defined elsewhere and are exploratory.
Measured: At enrollment; updated classifications retained separately during follow-up.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2026
- Study startOct 2026 (estimated)
- Primary completionOct 2046 (estimated)
- Study completionOct 2056 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Peutz-Jeghers SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- First People's Hospital of Hangzhou
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Kangyu, First People's Hospital of Hangzhou
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07889596
- Sponsor's protocol ID
- HEIR-PJS-2026
- Status last verified
- Oct 2026
- First submitted
- 16 Oct 2026
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed 25741868Wagner A, Aretz S, Auranen A, Bruno MJ, Cavestro GM, Crosbie EJ, Goverde A, Jelsig AM, Latchford A, Leerdam MEV, Lepisto A, Puzzono M, Winship I, Zuber V, Moslein G. The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021 Jan 27;10(3):473. doi: 10.3390/jcm10030473.
PubMed 33513864Gu GL, Zhang Z, Zhang YH, Yu PF, Dong ZW, Yang HR, Yuan Y. Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome. World J Gastroenterol. 2021 Oct 21;27(39):6631-6646. doi: 10.3748/wjg.v27.i39.6631.
PubMed 34754157Jelsig AM, Wullum L, Kuhlmann TP, Ousager LB, Burisch J, Karstensen JG. Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls. Gastroenterology. 2023 Dec;165(6):1565-1567.e2. doi: 10.1053/j.gastro.2023.08.040. Epub 2023 Sep 1. No abstract available.
PubMed 37659672de Leng WW, Jansen M, Carvalho R, Polak M, Musler AR, Milne AN, Keller JJ, Menko FH, de Rooij FW, Iacobuzio-Donahue CA, Giardiello FM, Weterman MA, Offerhaus GJ. Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. Clin Genet. 2007 Dec;72(6):568-73. doi: 10.1111/j.1399-0004.2007.00907.x. Epub 2007 Oct 9.
PubMed 17924967Neyaz A, Husain N, Deodhar M, Khurana R, Shukla S, Arora A. Synchronous Cervical Minimal Deviation Adenocarcinoma, Gastric Type Adenocarcinoma and Lobular Endocervical Glandular Hyperplasia Along with STIL in Peutz-Jeghers Syndrome: Eliciting Oncogenesis Pathways. Turk Patoloji Derg. 2019;35(3):247-253. doi: 10.5146/tjpath.2017.01406.
PubMed 28832082van Lier MG, Westerman AM, Wagner A, Looman CW, Wilson JH, de Rooij FW, Lemmens VE, Kuipers EJ, Mathus-Vliegen EM, van Leerdam ME. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011 Feb;60(2):141-7. doi: 10.1136/gut.2010.223750.
PubMed 21205875Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987 Jun 11;316(24):1511-4. doi: 10.1056/NEJM198706113162404.
PubMed 3587280Banno K, Kisu I, Yanokura M, Masuda K, Ueki A, Kobayashi Y, Hirasawa A, Aoki D. Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review). Oncol Lett. 2013 Nov;6(5):1184-1188. doi: 10.3892/ol.2013.1527. Epub 2013 Aug 16.
PubMed 24179492
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Chinese Multicenter Registry for Peutz-Jeghers Syndrome
- ClinicalTrials.gov ID
- NCT07889596
- Acronym / sponsor ID
- HEIR-PJS-2026
- Conditions
- Peutz-Jeghers Syndrome
- Keywords
- STK11, LKB1, hereditary cancer, patient registry, genotype-phenotype association, biospecimen bank, patient-derived organoids
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- First People's Hospital of HangzhouUniversity, hospital or other
- Study start
- Oct 2026 (estimated)
- Primary completion
- Oct 2046 (estimated)
- Study completion
- Oct 2056 (estimated)
- First posted
- 22 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This prospective, observational patient registry will enroll approximately 1,000 individuals with a clinical or molecular diagnosis of Peutz-Jeghers syndrome (PJS) at participating hospitals in China. The registry will collect standardized clinical information, existing genetic test reports, family history, and longitudinal outcomes. The primary objective is to estimate the 10-year cumulative incidence of a first invasive malignancy after enrollment among participants without a previous malignancy or an unresolved suspected malignancy at baseline, accounting for death as a competing event. Secondary objectives address organ-specific malignancies, new primary cancers in participants with a cancer history, mortality, major polyp-related complications, and clinical and STK11 variant characteristics. Participants may be followed for up to 20 years. Biospecimen donation, additional baseline sampling, research sequencing, and patient-derived organoid studies are optional and require the corresponding consent. Refusal of an optional component does not preclude participation in the clinical registry. No treatment or clinical surveillance strategy is assigned by the study.
Detailed description
Peutz-Jeghers syndrome is a rare inherited tumor-predisposition syndrome associated with gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and increased risks of several malignancies. This multicenter registry will document the clinical course of enrolled patients receiving usual care and will support carefully defined genotype-phenotype and translational research. It is a hospital-based, non-probability sample and is not designed to provide a probability-representative estimate for the entire Chinese PJS population.
The purpose of this study is to establish a nationwide multicenter registry of patients with PJS, integrating standardized clinical information, existing genetic reports, optional biospecimen studies and prospective follow-up. The primary objective is to estimate 10-year cumulative incidence of a first invasive malignancy among participants without previous or unresolved suspected malignancy at baseline. The study will support defined genotype-phenotype and translational analyses; it does not assign treatment or clinical surveillance.
Specific study objectives are listed below:
- Establish a standardized PJS clinical database to define the clinical characteristics and natural history of the disease in Chinese patients.
- Analyze the landscape of STK11 gene variants and the relationship between genotype and clinical phenotype.
- Establish an optional biobank of patients with PJS, using separately consented specimens, to provide resources for approved research.
- Establish separately consented patient-derived organoid models to investigate disease mechanisms and in vitro drug responses without directing patient treatment.
- Explore the development of a precision management system. The workflow includes consecutive recruitment, diagnostic confirmation, core registry consent, baseline clinical-data abstraction, prospective follow-up and outcome review. Biospecimen collection, research sequencing and organoid studies are optional components; refusal does not preclude enrollment.
The registry will implement standardized baseline clinical-data abstraction, prospective follow-up and outcome review, with historical medical information will be abstracted at baseline and distinguished from prospectively observed events. All eligible, consenting participants contribute to the clinical registry. Participants will be contacted approximately every 12 months through routine visits, telephone, or institution-approved remote methods. Clinical and genetic associations will account for family relationships, recruitment pathway, center, and relevant prespecified covariates. STK11 germline variants will be classified using the ACMG/AMP framework and applicable subsequent guidance, with the reference sequence, testing scope, evidence, and interpretation date documented. Germline and tumor-only findings will be distinguished. Untested participants, participants with limited testing, those with variants of uncertain significance, and those with adequately evaluated negative findings will not be combined into a single wild-type group.
The primary analysis will estimate the cumulative incidence function at 10 years using an Aalen-Johansen approach, with uncertainty accounting for family clustering when supported by the data. Attained-age analyses will use delayed entry at enrollment and will not treat the period before enrollment as prospectively observed person-time. Optional biospecimen studies prioritize clinical residual material. No research-only tissue biopsy or enlargement of a clinical resection is permitted.Research sequencing, multi-omics, and patient-derived organoid or tumor-organoid studies will be performed only in authorized, suitable subsets. Laboratory and analytical methods will distinguish biological participants from repeated specimens or culture wells. Predictive biomarker analyses require pre-outcome specimens and family-separated validation. Research findings will not direct clinical treatment; clinically meaningful findings considered for return require appropriate confirmation, counseling, and the participant's documented preference.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 20 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Peutz-Jeghers syndrome | – | –Individuals meeting protocol-defined clinical diagnostic criteria or carrying a confirmed germline pathogenic or likely pathogenic STK11 variant associated with PJS. Participants with and without previous cancer may enroll. Optional biospecimen and genetic components do not determine clinical registry eligibility. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a confirmed clinical or molecular diagnosis of PJS who receive care at participating centers in China. Recruitment will be consecutive where feasible. Previous cancer does not preclude registry enrollment. Diagnostically unconfirmed relatives are not independently enrolled under this version. Relatives who independently meet clinical or molecular diagnostic criteria may enroll with separate consent and a unique individual identifier linked to a pedigree.
Key inclusion criteria (4 listed)
- A clinical diagnosis of PJS meeting at least one of the following: two or more histologically confirmed Peutz-Jeghers polyps; any number of Peutz-Jeghers polyps and a family history of PJS; characteristic mucocutaneous pigmentation and a family history of PJS; or any number of Peutz-Jeghers polyps together with characteristic mucocutaneous pigmentation. Alternatively, a molecular diagnosis established by a confirmed germline pathogenic or likely pathogenic STK11 variant associated with PJS, interpreted by appropriately qualified professionals.
- Valid written informed consent for the core clinical registry from the participant or the legally appropriate guardian, with age- and capacity-appropriate information and assent when applicable.
- Minimum clinical or genetic documentation sufficient to confirm eligibility and agreement to at least one feasible method of longitudinal contact or record-based follow-up within the approved consent.
- Biospecimen donation, availability of all specimen types, and participation in research sequencing or organoid experiments are not required for clinical registry enrollment.
Key exclusion criteria (2 listed)
- Neither the clinical nor molecular diagnostic pathway can be confirmed. A variant of uncertain significance alone does not satisfy molecular eligibility.
- Absence of valid consent for the core registry. Duplicate records of the same individual will be merged rather than counted as additional participants. Inability or refusal to undergo an optional sample procedure is not a registry exclusion criterion. Procedure-specific safety restrictions affect that procedure only.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
10-year cumulative incidence of a first invasive malignancy
Time frame: From enrollment to 10 years after enrollment, first invasive malignancy, death, withdrawal, or last reliable event-free assessment, as applicable.
Time from registry enrollment to the first confirmed invasive malignant neoplasm among participants with no previous malignancy and no unresolved suspected malignancy at baseline. Pathology will be the preferred evidence for solid tumors; hematologic malignancies will follow the relevant diagnostic criteria. Benign lesions, in situ disease, recurrence, progression, and metastases from an existing primary are excluded from this endpoint. The cumulative incidence at 10 years will be estimated with death before malignancy as a competing event. Participants with previous malignancy are not included in this primary risk set.
8 secondary outcomes
Organ-specific cumulative incidence of a new primary invasive malignancy
Time frame: From enrollment up to 20 years; estimates at 5, 10, and 20 years where supported.
Cumulative incidence of a subsequent new primary invasive malignancy in participants with a cancer history
Time frame: From enrollment up to 20 years.
All-cause mortality
Time frame: From enrollment up to 20 years; summaries at 5, 10, and 20 years where supported.
Cumulative incidence of cancer-related death
Time frame: From enrollment up to 20 years.
Cumulative incidence of a first major polyp-related complication
Time frame: From enrollment up to 20 years.
Age at clinical diagnosis of PJS
Time frame: At enrollment, using available historical records.
Baseline gastrointestinal polyp involvement by anatomical site
Time frame: At enrollment, using available historical and baseline records.
Distribution of documented STK11 germline variant classifications and variant types
Time frame: At enrollment; updated classifications retained separately during follow-up.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 25741868Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- Background: PubMed 33513864Wagner A, Aretz S, Auranen A, Bruno MJ, Cavestro GM, Crosbie EJ, Goverde A, Jelsig AM, Latchford A, Leerdam MEV, Lepisto A, Puzzono M, Winship I, Zuber V, Moslein G. The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021 Jan 27;10(3):473. doi: 10.3390/jcm10030473.
- Background: PubMed 34754157Gu GL, Zhang Z, Zhang YH, Yu PF, Dong ZW, Yang HR, Yuan Y. Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome. World J Gastroenterol. 2021 Oct 21;27(39):6631-6646. doi: 10.3748/wjg.v27.i39.6631.
- Background: PubMed 37659672Jelsig AM, Wullum L, Kuhlmann TP, Ousager LB, Burisch J, Karstensen JG. Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls. Gastroenterology. 2023 Dec;165(6):1565-1567.e2. doi: 10.1053/j.gastro.2023.08.040. Epub 2023 Sep 1. No abstract available.
- Background: PubMed 17924967de Leng WW, Jansen M, Carvalho R, Polak M, Musler AR, Milne AN, Keller JJ, Menko FH, de Rooij FW, Iacobuzio-Donahue CA, Giardiello FM, Weterman MA, Offerhaus GJ. Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. Clin Genet. 2007 Dec;72(6):568-73. doi: 10.1111/j.1399-0004.2007.00907.x. Epub 2007 Oct 9.
- Background: PubMed 28832082Neyaz A, Husain N, Deodhar M, Khurana R, Shukla S, Arora A. Synchronous Cervical Minimal Deviation Adenocarcinoma, Gastric Type Adenocarcinoma and Lobular Endocervical Glandular Hyperplasia Along with STIL in Peutz-Jeghers Syndrome: Eliciting Oncogenesis Pathways. Turk Patoloji Derg. 2019;35(3):247-253. doi: 10.5146/tjpath.2017.01406.
- Background: PubMed 21205875van Lier MG, Westerman AM, Wagner A, Looman CW, Wilson JH, de Rooij FW, Lemmens VE, Kuipers EJ, Mathus-Vliegen EM, van Leerdam ME. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011 Feb;60(2):141-7. doi: 10.1136/gut.2010.223750.
- Background: PubMed 3587280Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987 Jun 11;316(24):1511-4. doi: 10.1056/NEJM198706113162404.
- Background: PubMed 24179492Banno K, Kisu I, Yanokura M, Masuda K, Ueki A, Kobayashi Y, Hirasawa A, Aoki D. Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review). Oncol Lett. 2013 Nov;6(5):1184-1188. doi: 10.3892/ol.2013.1527. Epub 2013 Aug 16.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Peutz-Jeghers Syndrome, run by First People's Hospital of Hangzhou at 9 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yu Kang (+86 19560161853, kangyu@hospital.westlake.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
10-year cumulative incidence of a first invasive malignancy (time frame: From enrollment to 10 years after enrollment, first invasive malignancy, death, withdrawal, or last reliable event-free assessment, as applicable.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07889596, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.