Analysis of Molecular Biomarkers in Periocular Adnexal Tumours
NCT06080009 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 20
Last updated 2024-02-23
Summary
The aim of this study is to collect sebaceous carcinomas from the Fondazione Policlinico Gemelli retrospectively and prospectively, to analyse them morphologically and immunopathologically and to correlate them with molecular genetic aspects. This study will help to clarify and develop a more effective multidisciplinary diagnostic-therapeutic pathway.
Conditions
- Sebaceous Cell Tumor of Eyelid
Interventions
- GENETIC
-
exome sequencing (retrospective) and exome and methylome sequencing (prospective)
Three to nine sections will be used as the source of DNA for each tumor. The pathologist will identify and separate tumor tissue from normal tissue, and the two DNAs will be sequenced separately. Variants obtained from tumor and normal tissue will be compared, with different outcomes. Expected in this way are 1) somatic/tumor-specific variants (which are absent in normal tissue), 2) variants lost during tumor evolution due to segmental chromosomal deletion or other mechanisms that cause loss of heterozygosity. Using these two classes of variants, a clustering analysis will be performed at the end of the sequencing project to better define the phenotype and molecular "signature" of the tumors. In the prospective part of the project, the new tumors will be frozen fresh. This resource will allow methyloma analysis to be performed.
Sponsors & Collaborators
-
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
lead OTHER
Study Design
- Allocation
- NA
- Purpose
- DIAGNOSTIC
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-10-31
- Primary Completion
- 2024-10-06
- Completion
- 2025-10-06
Countries
- Italy
Study Locations
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