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Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome
Sponsor: Centre Hospitalier Universitaire de Nīmes
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
150
Start Date
2025-12
Completion Date
2027-12
Last Updated
2025-11-17
Healthy Volunteers
No
Conditions
Interventions
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.
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