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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Clinical Phase

NA

Total Enrollment

150 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-12-31

Study Completion Date

2027-12-31

Brief Summary

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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.

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Detailed Description

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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

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

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

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.

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Patients with Lynch syndrome undergoing screening for Muir-Torre syndrome

Group Type OTHER

Sampling of suspected skin lesions (in accordance with good care practices).

Intervention Type DIAGNOSTIC_TEST

Sampling of suspected skin lesions (in accordance with good care practices) and swabbing of skin microbiota.

Constitution of a biobank

Intervention Type GENETIC

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

Interventions

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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.

Intervention Type DIAGNOSTIC_TEST

Constitution of a biobank

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

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

* 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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No