Basal Cell Carcinoma of Skin, Site UnspecifiedSMT-SLNCT07201012
Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome
A study testing Sampling of suspected skin lesions (in accordance with good care practices). and Constitution of a biobank in people with Basal Cell Carcinoma of Skin, Site Unspecified and Epidermoid Carcinoma, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
Trial summary
The main aim of this study is to determine the prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome (LS) confirmed by genetic analysis. Other aims include describing the dermatological clinical manifestations of these patients in order to describe any possible new cutaneous… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Basal Cell Carcinoma of Skin, Site Unspecified, Epidermoid Carcinoma, Lynch Syndrome
- What is being tested?
- Sampling of suspected skin lesions (in accordance with good care practices). and Constitution of a biobank
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- 13 Mar 2026to Dec 2027
- Phase
- Interventional
- 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
Who may be able to join
- Patient with a germline alteration of one of the MMR (MisMatch Repair) pathway genes (MLH1, PMS2, MSH2, MSH6) proven by constitutional genetic analysis (genetically authenticated Lynch syndrome).
- Patient followed at Nîmes University Hospital.
- Patient having given free and informed consent.
- Person affiliated to or benefiting from a social security scheme.
Who cannot join
- Person under court protection, guardianship or curatorship.
- A person who is unable to give consent.
- Person for whom it is impossible to give informed information.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU de Nîmes
Nîmes, Gard, 30029
Anissa MEGZARI, + 33 4.66.68.30.09, drc@chu-nimes.fr
Eric FROUIN, MD
About this study
The main aim of this study is to determine the prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome (LS) confirmed by genetic analysis. Other aims include describing the dermatological clinical manifestations of these patients in order to describe any possible new cutaneous manifestations of this syndrome. Another aim is to use molecular biology (microsatellite instability) and immunohistochemistry to analyze non-sebaceous skin lesions and deep-seated tumors that do not belong to the narrow spectrum of Lynch syndrome, and determine whether their occurrence in these patients is related to the genetic syndrome. The follow-up of these tumors (screening for new tumors) in patients with SL, as recommended by the learned societies, will also be evaluated. Finally, a biobank of cutaneous and deep tumour lesions in paraffin (retrospective) and smears of cutaneous lesions and healthy tissue (prospective) will be set up.
Read the detailed description
Muir-Torre Syndrome (MTS) is an autosomal dominant disease described independently by Muir et al. in 1967 and Torre in 1968, defined by the association of a visceral tumor of the Lynch spectrum (colorectal, endometrial, urinary excretory tract, biliary tract, small intestine, stomach or glioblastoma carcinomas) and sebaceous skin tumors and/or multiple keratoacanthomas.
Histo-molecular examination of tumors for TMS/SL is based on 2 techniques, each focusing on a different aspect of TMS pathophysiology.
Immunohistochemistry (IHC) studies the presence of proteins from the MisMatch Repair (MMR) system in lesional tissues, and an absence of expression of one of these proteins is the physical translation of an abnormality in the MMR pathway, for which the presence of a constitutional mutation in one of the MMR system genes (MLH1, PMS2, MSH2, MSH6) is responsible. An IHC-deficient MMR phenotype (dMMR) results in a complete loss of expression of one or more MMR proteins in tumor cells, with expression maintained in "normal" cells (connective cells, immune cells, non-tumor epithelial cells).
Molecular biology or microsatellite instability (MSI) testing focuses on the molecular repercussions of MMR pathway failure. The aim of this technique is to determine the presence of microsatellite marker instability in tumor tissue. While for colorectal tumors, a comparative analysis of the patient's healthy tissue can be dispensed with, for other organs on the Lynch spectrum, including sebaceous tumors, a comparison with DNA from normal tissue can help interpret the results.
The incidence of TMS among patients with genetically proven SL is poorly known. Two studies have shown a prevalence of 9.2%, both involving American patients (1,2). These were 2 retrospective chart-based studies, the skin tumors not having been re-read for diagnostic confirmation.
These patients may also develop skin tumors not belonging to the SMT-SL spectrum, such as basal cell carcinomas (BCCs), squamous cell carcinomas (SCCs) or melanocytic tumors (melanomas and nevi). These skin and deep tumors (visceral tumors) not belonging to the Lynch spectrum of patients with proven SL have rarely been systematically studied for a dMMR phenotype.
French societies (INCa, Société Française de Gastroentérologie) have proposed the management of any patient with a mutation in one of the MMR system genes. Compliance with follow-up is a major public health issue. Digestive follow-up (regular colonoscopies) is only 68%, whereas gynecological follow-up is only 73% to 80%. Other types of follow-up, notably dermatological, have rarely been analyzed, and above all we have no data on compliance in France.
- Conditions
- Basal Cell Carcinoma of Skin, Site Unspecified, Epidermoid Carcinoma, Lynch Syndrome, Muir-Torre Syndrome
- Being tested
- Sampling of suspected skin lesions (in accordance with good care practices)., Constitution of a biobank
- Keywords
- Carcinoma, Screening, Skin cancer
- Medical subject headings
- Carcinoma, Basal Cell, Carcinoma, Squamous Cell, Colorectal Neoplasms, Hereditary Nonpolyposis, Muir-Torre Syndrome, Carcinoma, Skin Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sampling of suspected skin lesions (in accordance with good care practices).Diagnostic test
Sampling of suspected skin lesions (in accordance with good care practices) and swabbing of skin microbiota.
Constitution of a biobankGenetic
Collection of previously excised cutaneous and deep tumour lesions kept in a public or private pathological anatomy facility for these patients
| Study group | Role | What they receive |
|---|---|---|
| Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome | Other | Not described Receives: Diagnostic Test: Sampling of suspected skin lesions (in accordance with good care practices).; Genetic: Constitution of a biobank |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome
Proportion of patients with Muir-Torre Syndrome confirmed by the occurrence of a sebaceous tumor (sebaceous adenoma, sebaceoma, sebaceous carcinoma) or several keratoacanthomas among patients with Lynch Syndrome. These tumors may or may not have had the mismatch repair system analyzed by immunohistochemistry (analysis of the 4 antibodies MLH1, PMS2, MSH2, MSH6) or by molecular biology (search for microsatellite instability).
If the mismatch repair system has been studied, it must be deficient and the proteins absent on immunohistochemistry must be consistent with the mutated gene in Lynch Syndrome. If a block or slides are still available, sebaceous skin tumors or keratoacanthomas will be re-evaluated at Nîmes University Hospital for confirmation of the diagnosis.
Measured: Up to 6 months after inclusion
Secondary outcomes (5)
Dermatological clinical manifestations in patients with confirmed Lynch Syndrome
Presence of clinical dermatological signs associated with Lynch syndrome. YES/NO
Measured: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody MLH1
Molecular analysis (MSI test) and immunohistochemical analysis. Presence of antibody MLH1 on other tumour tissues (YES/NO) to determine the mismatch repair deficient (or MSI = pathological) or proficient (or MSS = normal) status of these lesions (and thereby their link with Muir-Torre syndrome).
Measured: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody PMS2
Molecular analysis (MSI test) and immunohistochemical analysis. Presence of antibody PMS2 on other tumour tissues (YES/NO) to determine the mismatch repair deficient (or MSI = pathological) or proficient (or MSS = normal) status of these lesions (and thereby their link with Muir-Torre syndrome).
Measured: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody MSH2
Molecular analysis (MSI test) and immunohistochemical analysis. Presence of antibody MSH2 on other tumour tissues (YES/NO) to determine the mismatch repair deficient (or MSI = pathological) or proficient (or MSS = normal) status of these lesions (and thereby their link with Muir-Torre syndrome).
Measured: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody MSH6
Molecular analysis (MSI test) and immunohistochemical analysis. Presence of antibody MSH6 (YES/NO) on other tumour tissues, to determine the mismatch repair deficient (or MSI = pathological) or proficient (or MSS = normal) status of these lesions (and thereby their link with Muir-Torre syndrome).
Measured: Up to 6 months after inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Oct 2025
- Study start13 Mar 2026
- Primary completionNov 2026 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Basal Cell Carcinoma of Skin, Site UnspecifiedStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NīmesThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Sampling of suspected skin lesions (in accordance with good care practice) and swabbing of skin microbiota. Collection of previously excised cutaneous and deep tumour lesions kept in a public or private pathological anatomy facility for these patients.
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nīmes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Pierre STOEBNER, Prof., Principal investigator, Nîmes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07201012
- Sponsor's protocol ID
- NIMAO/2024-01/EF-01
- Acronym
- SMT-SL
- Status last verified
- Jun 2026
- First submitted
- 23 Sep 2025
- Last updated
- 22 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Zhong CS, Horiguchi M, Uno H, Ukaegbu C, Chittenden A, LeBoeuf NR, Syngal S, Nambudiri VE, Yurgelun MB. Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort. J Am Acad Dermatol. 2023 Jun;88(6):1282-1290. doi: 10.1016/j.jaad.2023.01.035. Epub 2023 Feb 9.
PubMed 36773823South CD, Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. 2008 Feb 20;100(4):277-81. doi: 10.1093/jnci/djm291. Epub 2008 Feb 12.
PubMed 18270343Adan F, Crijns MB, Zandstra WSE, Bekkenk MW, Bleeker FE, Dekker E, van Leerdam ME. Cumulative risk of skin tumours in patients with Lynch syndrome. Br J Dermatol. 2018 Aug;179(2):522-523. doi: 10.1111/bjd.16552. Epub 2018 May 29. No abstract available.
PubMed 29542113Aziz S, O'Sullivan H, Heelan K, Alam A, McVeigh TP. Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review. Fam Cancer. 2023 Apr;22(2):167-175. doi: 10.1007/s10689-022-00319-8. Epub 2022 Nov 23.
PubMed 36418753Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson MA, Janjigian Y, O'Reilly EM, Segal N, Saltz LB, Reidy-Lagunes D, Varghese AM, Bajorin D, Carlo MI, Cadoo K, Walsh MF, Weiser M, Aguilar JG, Klimstra DS, Diaz LA Jr, Baselga J, Zhang L, Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. J Clin Oncol. 2019 Feb 1;37(4):286-295. doi: 10.1200/JCO.18.00283. Epub 2018 Oct 30.
PubMed 30376427Poumeaud F, Valentin T, Vande Perre P, Jaffrelot M, Bonnet D, Chibon F, Chevreau C, Selves J, Guimbaud R, Fares N. Special features of sarcomas developed in patients with Lynch syndrome: A systematic review. Crit Rev Oncol Hematol. 2023 Aug;188:104055. doi: 10.1016/j.critrevonc.2023.104055. Epub 2023 Jun 8.
PubMed 37301271
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome
- ClinicalTrials.gov ID
- NCT07201012
- Acronym / sponsor ID
- SMT-SL / NIMAO/2024-01/EF-01
- Conditions
- Basal Cell Carcinoma of Skin, Site Unspecified, Epidermoid Carcinoma, Lynch Syndrome, Muir-Torre Syndrome
- Keywords
- Carcinoma, Screening, Skin cancer
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NīmesUniversity, hospital or other
- Study start
- 13 Mar 2026 (actual)
- Primary completion
- Nov 2026 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 1 Oct 2025 (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.
The main aim of this study is to determine the prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome (LS) confirmed by genetic analysis. Other aims include describing the dermatological clinical manifestations of these patients in order to describe any possible new cutaneous manifestations of this syndrome. Another aim is to use molecular biology (microsatellite instability) and immunohistochemistry to analyze non-sebaceous skin lesions and deep-seated tumors that do not belong to the narrow spectrum of Lynch syndrome, and determine whether their occurrence in these patients is related to the genetic syndrome. The follow-up of these tumors (screening for new tumors) in patients with SL, as recommended by the learned societies, will also be evaluated. Finally, a biobank of cutaneous and deep tumour lesions in paraffin (retrospective) and smears of cutaneous lesions and healthy tissue (prospective) will be set up.
Detailed description
Muir-Torre Syndrome (MTS) is an autosomal dominant disease described independently by Muir et al. in 1967 and Torre in 1968, defined by the association of a visceral tumor of the Lynch spectrum (colorectal, endometrial, urinary excretory tract, biliary tract, small intestine, stomach or glioblastoma carcinomas) and sebaceous skin tumors and/or multiple keratoacanthomas.
Histo-molecular examination of tumors for TMS/SL is based on 2 techniques, each focusing on a different aspect of TMS pathophysiology.
Immunohistochemistry (IHC) studies the presence of proteins from the MisMatch Repair (MMR) system in lesional tissues, and an absence of expression of one of these proteins is the physical translation of an abnormality in the MMR pathway, for which the presence of a constitutional mutation in one of the MMR system genes (MLH1, PMS2, MSH2, MSH6) is responsible. An IHC-deficient MMR phenotype (dMMR) results in a complete loss of expression of one or more MMR proteins in tumor cells, with expression maintained in "normal" cells (connective cells, immune cells, non-tumor epithelial cells).
Molecular biology or microsatellite instability (MSI) testing focuses on the molecular repercussions of MMR pathway failure. The aim of this technique is to determine the presence of microsatellite marker instability in tumor tissue. While for colorectal tumors, a comparative analysis of the patient's healthy tissue can be dispensed with, for other organs on the Lynch spectrum, including sebaceous tumors, a comparison with DNA from normal tissue can help interpret the results.
The incidence of TMS among patients with genetically proven SL is poorly known. Two studies have shown a prevalence of 9.2%, both involving American patients (1,2). These were 2 retrospective chart-based studies, the skin tumors not having been re-read for diagnostic confirmation.
These patients may also develop skin tumors not belonging to the SMT-SL spectrum, such as basal cell carcinomas (BCCs), squamous cell carcinomas (SCCs) or melanocytic tumors (melanomas and nevi). These skin and deep tumors (visceral tumors) not belonging to the Lynch spectrum of patients with proven SL have rarely been systematically studied for a dMMR phenotype.
French societies (INCa, Société Française de Gastroentérologie) have proposed the management of any patient with a mutation in one of the MMR system genes. Compliance with follow-up is a major public health issue. Digestive follow-up (regular colonoscopies) is only 68%, whereas gynecological follow-up is only 73% to 80%. Other types of follow-up, notably dermatological, have rarely been analyzed, and above all we have no data on compliance in France.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Sampling of suspected skin lesions (in accordance with good care practice) and swabbing of skin microbiota. Collection of previously excised cutaneous and deep tumour lesions kept in a public or private pathological anatomy facility for these patients.
| Arm | Type | Receives |
|---|---|---|
| Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome | Other | Diagnostic Test: Sampling of suspected skin lesions (in accordance with good care practices)., Genetic: Constitution of a biobank |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Patient with a germline alteration of one of the MMR (MisMatch Repair) pathway genes (MLH1, PMS2, MSH2, MSH6) proven by constitutional genetic analysis (genetically authenticated Lynch syndrome).
- Patient followed at Nîmes University Hospital.
- Patient having given free and informed consent.
- Person affiliated to or benefiting from a social security scheme.
Key exclusion criteria (3 listed)
- Person under court protection, guardianship or curatorship.
- A person who is unable to give consent.
- Person for whom it is impossible to give informed information.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Sampling of suspected skin lesions (in accordance with good care practices).Sampling of suspected skin lesions (in accordance with good care practices) and swabbing of skin microbiota. | Diagnostic test | Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome |
| Constitution of a biobankCollection of previously excised cutaneous and deep tumour lesions kept in a public or private pathological anatomy facility for these patients | Genetic | Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome |
Primary outcome
Prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome
Time frame: Up to 6 months after inclusion
Proportion of patients with Muir-Torre Syndrome confirmed by the occurrence of a sebaceous tumor (sebaceous adenoma, sebaceoma, sebaceous carcinoma) or several keratoacanthomas among patients with Lynch Syndrome. These tumors may or may not have had the mismatch repair system analyzed by immunohistochemistry (analysis of the 4 antibodies MLH1, PMS2, MSH2, MSH6) or by molecular biology (search for microsatellite instability). If the mismatch repair system has been studied, it must be deficient and the proteins absent on immunohistochemistry must be consistent with the mutated gene in Lynch Syndrome. If a block or slides are still available, sebaceous skin tumors or keratoacanthomas will be re-evaluated at Nîmes University Hospital for confirmation of the diagnosis.
5 secondary outcomes
Dermatological clinical manifestations in patients with confirmed Lynch Syndrome
Time frame: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody MLH1
Time frame: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody PMS2
Time frame: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody MSH2
Time frame: Up to 6 months after inclusion
Non-sebaceous skin lesions and Deep-seated tumors not belonging to the narrow spectrum of Lynch syndrome. Presence of antibody MSH6
Time frame: Up to 6 months after inclusion
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 22 Jun 2026.
- Background: PubMed 36773823Zhong CS, Horiguchi M, Uno H, Ukaegbu C, Chittenden A, LeBoeuf NR, Syngal S, Nambudiri VE, Yurgelun MB. Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort. J Am Acad Dermatol. 2023 Jun;88(6):1282-1290. doi: 10.1016/j.jaad.2023.01.035. Epub 2023 Feb 9.
- Background: PubMed 18270343South CD, Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. 2008 Feb 20;100(4):277-81. doi: 10.1093/jnci/djm291. Epub 2008 Feb 12.
- Background: PubMed 29542113Adan F, Crijns MB, Zandstra WSE, Bekkenk MW, Bleeker FE, Dekker E, van Leerdam ME. Cumulative risk of skin tumours in patients with Lynch syndrome. Br J Dermatol. 2018 Aug;179(2):522-523. doi: 10.1111/bjd.16552. Epub 2018 May 29. No abstract available.
- Background: PubMed 36418753Aziz S, O'Sullivan H, Heelan K, Alam A, McVeigh TP. Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review. Fam Cancer. 2023 Apr;22(2):167-175. doi: 10.1007/s10689-022-00319-8. Epub 2022 Nov 23.
- Background: PubMed 30376427Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson MA, Janjigian Y, O'Reilly EM, Segal N, Saltz LB, Reidy-Lagunes D, Varghese AM, Bajorin D, Carlo MI, Cadoo K, Walsh MF, Weiser M, Aguilar JG, Klimstra DS, Diaz LA Jr, Baselga J, Zhang L, Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. J Clin Oncol. 2019 Feb 1;37(4):286-295. doi: 10.1200/JCO.18.00283. Epub 2018 Oct 30.
- Background: PubMed 37301271Poumeaud F, Valentin T, Vande Perre P, Jaffrelot M, Bonnet D, Chibon F, Chevreau C, Selves J, Guimbaud R, Fares N. Special features of sarcomas developed in patients with Lynch syndrome: A systematic review. Crit Rev Oncol Hematol. 2023 Aug;188:104055. doi: 10.1016/j.critrevonc.2023.104055. Epub 2023 Jun 8.
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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.
Pierre STOEBNER, Prof. principal investigator
Nîmes University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Sampling of suspected skin lesions (in accordance with good care practices). and Constitution of a biobank in people with Basal Cell Carcinoma of Skin, Site Unspecified and Epidermoid Carcinoma, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
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 3 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: looking for participants now, as of the sponsor's last update on 22 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. 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 Eric FROUIN, Dr. (+334 66 68 82 74, Eric.frouin@chu-nimes.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of Muir-Torre syndrome (MTS) in the population of patients with Lynch syndrome (time frame: Up to 6 months after inclusion). 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 NCT07201012, which also lists 6 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 22 Jun 2026.