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| ID | Type | Description | Link |
|---|---|---|---|
| HORIZON-MISS-2021-CANCER-02-03 | Other Grant/Funding Number | European Comission |
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| Name | Class |
|---|---|
| Institut National de la Santé Et de la Recherche Médicale, France | OTHER_GOV |
| University Hospital Tuebingen | OTHER |
| University of Florence | OTHER |
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The primary objective of this study is to identify the molecular identity profiles of all cellular states that characterize the progression from benign nevi to malignant melanoma in CAYA patients with L/GCMN. The secondary objectives are:
NevustoMel is an international multicentric retrospective cohort study with molecular and experimental design. It will involve the genomic characterization of cell-free DNA and affected tissues from patients. Methylomics and single-cell multi-omics will be used to identify co-existing molecular (transcriptional and epigenomic) states at single-cell level and will be generated from affected tissues. These results will be exploited using machine learning-assisted integration of multi-modal transcriptomics, epigenomics and spatial information. Integrated analyses of single-nucleus RNA sequencing from a selection of frozen tissues and spatial transcriptomics on formalin-fixed paraffin-embedded samples will allow the comparison of the findings to ground-state Human Developmental Cell Atlas data. Distinctions will be validated either with in situ hybridization (such as RNA sequencing) or immunostaining on test cohort tissues. These results will be complemented with in vitro functional analyses, high throughput sequencing and bioinformatic analyses.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| L/GCMN | Patients with congenital nevus with estimated size of 20 cm or more in adulthood (> 18 years old) |
| |
| Melanoma | Patients affected with Spitz-type or conventional melanomas in patients under 30 years of age |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Methylomics | Genetic | Methylomics analysis of FFPE blocks and frozen tissues |
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| Measure | Description | Time Frame |
|---|---|---|
| Molecular identity profiles | Molecular identity profiles of all cellular states that characterize the progression from benign nevi to malignant melanoma in children, adolescents and young adults (CAYA) patients with large/giant congenital melanocytic nevi (L/GCMN) | 26 months |
| Measure | Description | Time Frame |
|---|---|---|
| cfDNA profiles | Longitudinal characterization of the cell-free DNA (cfDNA) of CAYA patients | 26 months |
| Improve the early diagnosis and treatment of L/GCMN | Improve the early diagnosis and treatments for intermediate conditions such as L/GCMN through evidence-based interpretation of personal risk from endogenous or exogenous sources. |
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Inclusion criteria:
Exclusion criteria:
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Review and/or analysis of pre-existing medical records, biological samples and data collected from patients that have been visited at the different participating hospitals.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Susana Puig Sardà, MD, PhD | Contact | +34932275400 | spuig@clinic.cat | |
| Adrián López Canosa, PhD | Contact | lopez64@recerca.clinic.cat |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| French National Institute of Health and Medical Research | Recruiting | Marseille | France |
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| ID | Term |
|---|---|
| D008545 | Melanoma |
| D018326 | Nevi and Melanomas |
| ID | Term |
|---|---|
| D018358 | Neuroendocrine Tumors |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
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| ID | Term |
|---|---|
| D017423 | Sequence Analysis, RNA |
| D000073890 | Liquid Biopsy |
| ID | Term |
|---|---|
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
| D001706 | Biopsy |
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| Fondazione IRCCS Istituto Nazionale dei Tumori, Milano |
| OTHER |
| University Of Perugia | OTHER |
| German Cancer Research Center | OTHER |
| Karolinska Institutet | OTHER |
| Maria Sklodowska-Curie National Research Institute of Oncology | OTHER |
| Institut Curie | OTHER |
| Medical University of Gdansk | OTHER |
| Princess Maxima Center for Pediatric Oncology | OTHER |
| Institut Català d'Oncologia | OTHER |
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| RNA sequencing | Genetic | RNA sequencing of FFPE blocks and frozen tissues |
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| Spatial transcriptomics | Genetic | Spatial transcriptomics of FFPE blocks and frozen tissues |
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| Liquid biopsy | Genetic | cfDNA characterization extracted from blood/saliva |
|
| 26 months |
| Test pre-clinical strategies for L/GCMN | Test pre-clinical strategies to best model and improve patient response with intermediate lesions such as L/GCMN | 26 months |
| Hospital Clínic de Barcelona (Dermatology service) | Recruiting | Barcelona | Spain |
|
| D009369 | Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D012878 | Skin Neoplasms |
| D009371 | Neoplasms by Site |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D003581 |
| Cytodiagnosis |
| D003584 | Cytological Techniques |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D013048 | Specimen Handling |