Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome

NCT07201012 | Not Yet Recruiting

• 1 other identifier: NIMAO/2024-01/EF-01
• Study Type: interventional
• Target: 150
• Locations: 0 countries
• Sites: N/A

Brief 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 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.

Conditions

Basal Cell Carcinoma of Skin, Site Unspecified; Epidermoid Carcinoma; Lynch Syndrome; Muir-Torre Syndrome

Keywords

Carcinoma; Screening; Skin cancer

Outcome Measures

Primary Outcomes (1)

• 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.

  Up to 6 months after inclusion

Secondary Outcomes (5)

• Dermatological clinical manifestations in patients with confirmed Lynch Syndrome

  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

  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

  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

  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

  Up to 6 months after inclusion

Other Outcomes (1)

• Constitution of a biobank

  Up to 6 months after inclusion

Study Arms (1)

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

Interventions

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.

Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome

Constitution of a biobank GENETIC

Collection of previously excised cutaneous and deep tumour lesions kept in a public or private pathological anatomy facility for these patients

Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nīmes: lead

Related Publications (6)

• 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.

  PMID: 36773823 BACKGROUND

• South 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.

  PMID: 18270343 BACKGROUND

• Adan 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.

  PMID: 29542113 BACKGROUND

• Aziz 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.

  PMID: 36418753 BACKGROUND

• Latham 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.

  PMID: 30376427 BACKGROUND

• Poumeaud 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.

  PMID: 37301271 BACKGROUND

MeSH Terms

Conditions

Carcinoma, Basal Cell; Carcinoma, Squamous Cell; Colorectal Neoplasms, Hereditary Nonpolyposis; Muir-Torre Syndrome; Carcinoma; Skin Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Basal Cell; Neoplasms, Squamous Cell; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Sebaceous Gland Neoplasms; Lynch Syndrome II; Sebaceous Gland Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Genetic

Study Officials

• Pierre STOEBNER, Prof.

  Nîmes University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Eric FROUIN, Dr.

CONTACT

+334 66 68 82 74; Eric.frouin@chu-nimes.fr

Anissa MEZGARI

CONTACT

+44466684236; drc@chu-nimes.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 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.

Study Record Dates

• First Submitted: September 23, 2025
• First Posted: October 1, 2025
• Study Start: December 1, 2025
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): December 1, 2027
• Last Updated: November 17, 2025

Record last verified: 2025-11