Melanoma of Skin
Conditions
Keywords
Melanoma, Pediatric, Childrens, Adolescents, Young adults
Brief summary
The aim of this study is to investigate a type of skin cancer, also known as melanoma, in children, adolescents, and young adults, who will be referred to as CAYA patients in this project. The need for this study arises because this disease, in CAYA patients, is still poorly understood due to its rarity in individuals under 30 years old. This often leads to difficulties in assessing its severity and, consequently, in deciding on the necessary treatments to ensure the patient's recovery. The goal of this study is to examine melanoma in CAYA patients in order to gather the information needed to provide better diagnoses for affected patients and, as a result, select appropriate treatments to fight the disease and promote the patient's full recovery. Additionally, the data collected will be used to create a Pan-European online platform that will allow doctors across the European Union to consult the obtained data and collaborate on particularly complex melanoma cases, always with the aim of ensuring the patient's full recovery in the shortest possible time.
Detailed description
The Mol-Mel study will focus on different tasks and for each task different investigations will be carried out: * Standardization and tissue quality control: The quality of the samples will then be determined using hematoxylin & eosin (HE)-staining. If any quality issue is detected feedback will be sent to the clinical center responsible for providing the sample * Histopathology & computational pathology: Melanoma samples will undergo a central pathology review and analysis of conventional prognostic staging parameters. Diagnostically challenging neoplasms will be included in an inter-observer agreement carried out by different pathologist.Melanoma samples will also be charactered by single and multi-plex IHC in whole sections and tissue microarrays (TMA), and subjected to automated digital quantification. Spatial proteomics by automated ultra-high content imaging/MACSima Imaging Cyclic Staining (MICS) technology enables simultaneous analysis of hundreds of marker antigens on a single sample. Hundreds of antigens for single sample will be analysed via Automated ultra-high content imaging/MACSima Imaging Cyclic Staining (MICS) that will be performed on the novel automated ultra-high content imaging platform MACSimaTM (Miltenyi Biotec). * Comprehensive somatic, transcriptional and DNA methylation landscape and data integration: DNA and RNA will be extracted by FFPE melanoma samples and characterized using whole-exome sequencing (WES), single nucleotide polymorphism (SNP) and RNA sequencing (RNAseq) arrays on matched tumor/normal pairs of samples. Then recurrent somatic aberrations, DNA methylation subclasses and patterns of tumor evolution will be characterized. * Pan-European digital second opinion platform: this last task will focus on creating a pan-european second opinion platofrom in order to facilitate standardization of melanoma diagnosis and to share knowledge about biomarkers, algorithms and subtype classification.
Interventions
None listed
Sponsors
Tubingen University Hospital
Maria Sklodowska-Curie National Research Institute of Oncology
Fondazione IRCCS ISTITUTO NAZIONALE TUMORI
Hospital Clinic of Barcelona
Istanbul University
University Of Perugia
German Cancer Research Center
University of Florence
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 30 Years
Healthy volunteers
No
Inclusion criteria
* adolescent and childhood patients (< 20 years) or young adults (< 30 years) * histologically confirmed diagnosis of melanoma or intermediate/ambiguous melanocytic neoplasm (i.e., melanocytomas, SAMPUS, IAMPUS and MELTUMP according to WHO classification)
Exclusion criteria
* adult patients (> 30 years of age) * patients without histologically confirmed diagnosis of melanoma or intermediate/ambiguous melanocytic neoplasm
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Primary objective - Hybrid taxonomy | From enrollment at the end of 32 months | Integrate histopathology and molecular analyses to provide a novel hybrid taxonomy of melanoma in CAYA. |
| Primay objective - Histopathological and molecular features of pediatric melanoma | From enrollment at the end of 32 months | Assess the histopathological and molecular features of pediatric melanomas. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Secondary Objective - Identification of biomarkers | From enrollment at the end of 32 months | Identify prognostic biomarkers in the context of immunotherapy and targeted therapy. |
| Secondary Objective - pan-European digital pathology platform | From enrollment at the end of 32 months | Create a pan-European digital pathology platform to assess diagnostic inter-observer reproducibility, enhance international collaboration and achieve diagnosis standardization. |
| Secondary Objective - Identification of prognostic and predictive biomarkers | From enrollment at the end of 32 months | Identify driver mutations, transcriptomes, and DNA methylation subclasses with morphological, immunophenotypic analyses and clinical data to provide a novel hybrid taxonomy and identify tissue prognostic and predictive biomarkers. |
Countries
Italy
Contacts
Primary ContactDaniela Massi Professor
Backup ContactDario Di Gangi Doctor
Outcome results
None listed