Genotype-phenotype correlation in cutaneous tumours

  • Research type

    Research Study

  • Full title

    Genotype-phenotype correlation in cutaneous tumours

  • IRAS ID

    292029

  • Contact name

    Richard Carr

  • Contact email

    richard.carr@swft.nhs.uk

  • Sponsor organisation

    South Warwickshire NHS Foundation Trust

  • Duration of Study in the UK

    20 years, 0 months, 1 days

  • Research summary

    The skin is made up of a limited number of cell types. However, these limited cell types could turn into a diverse range of benign and cancerous skin tumour (growth). The overall aim of the study is to understand the relationship between the clinical appearance, microscopic appearance and genetic characteristics of skin tumour (many of which shared similar characteristics and can be difficult to distinguish) in order to refine existing diagnostic criteria for different skin tumour. There will be sub-studies within the overall study which specifically investigates tumour with shared characteristics. Sub-study 1 will investigate keratoacanthoma (grows rapidly and then typically regresses) and cutaneous squamous cell carcinoma (a cancer that keeps growing), which shared similar clinical and microscopic characteristics but have distinctive clinical behaviour. We will apply for major amendment when additional sub-studies are to be added within this research ethics application. The overall study aims to recruit 1000 participants and study methodology involves obtaining patient’s prospective consent for collecting data from their hospital records relevant to their skin tumour and retrieval of their surplus skin tumour tissues stored in NHS diagnostic archive in order to describe their clinical and microscopic characteristics. Participants can opt-in for their pseudo-anonymised tissue samples to be send for genetic analysis (e.g. examine the expression of genes within the neoplasm and adjacent normal skin); opt-in for their anonymised research data to be used for future training of artificial intelligence systems to recognise skin tumour; opt-in for their research data and surplus tissue samples stored in NHS diagnostic archive to be accessed for future research ethics committee approved studies. Descriptive statistical analysis will be performed to describe the correlation between the clinical, microscopic and genetic characteristics of the skin tumour.

  • REC name

    London - Fulham Research Ethics Committee

  • REC reference

    22/PR/0633

  • Date of REC Opinion

    18 May 2022

  • REC opinion

    Favourable Opinion