Area 5

Melanoma: imaging, genetics and immunology

Team leader

Strategic objectives

  1. Development of non-invasive imaging techniques for the diagnosis of melanoma.
  2. Study of the genetic bases implicated in susceptibility to melanoma and photocarcinogenesis.
  3. Development of treatment study strategies in melanoma and skin cancer: specific molecular target, immunological and photoprotection therapies.
  4. Application of artificial intelligence systems for evaluating complex data in melanoma, combining imaging, epidemiological, clinical and molecular information.
  5. Development of models of humanized mouse skin for the study of photoprotection and photocarcinogenesis.

Main lines of research

Main lines of research and some of the most relevant results obtained to date:

1. Dermoscopy and digital dermoscopy.

  • 1.1 Definition of new dermatoscopic criteria in different dermatological processes.
  • 1.2 Development of dermoscopy for introduction in primary care, pathology and dermatology. Implementation of dermoscopy in teledermatology.
  • 1.3 Analysis of dermoscopy as a preoperative prognostic tool.
  • 1.4 Correlation of dermoscopy with molecular signatures in tumours.
  • 1.5 Implementation of automatic vision algorithms for the classification of skin tumors.

2. Confocal microscopy & new photonic technologies. Description of new algorithms, study of the evolution of lesions, new classifications and the use of telemedicine.

  • 2.1 Definition of criteria in benign and malignant tumours using in vivo reflectance confocal microscopy (RCM) and ex vivo fluorescent confocal microscopy (FCM).
  • 2.2 Creation of diagnostic algorithm for inflammatory and infectious conditions.
  • 2.3 Implementation of RCM in the evaluation of treatment responses and early detection of relapses.
  • 2.4 Implementation of FCM in Mohs surgery and intraoperative diagnosis of several cancers.
  • 2.5 Development of OCT-HD, multispectral imaging & 3D imaging of the skin.

3. Genetic epidemiology.

  • 3.1 Study of melanoma susceptibility genes in familial and sporadic melanoma (CDKN2A, CDK4, BAP1, POT1, TERT, MITF).
  • 3.2 Identification of new genes and mechanisms of melanoma susceptibility and prognosis using Genome Wide Scan and NGS in melanoma families and in childhood melanoma.
  • 3.3 Study of nevogenicity and pigmentation genes associated to risk in melanoma.
  • 3.4 Study of the MC1R gene as medium penetrance gene and its implication in several types or subtypes of tumours and other pathologies.
  • 3.5 Study of genetic background of other cutaneous pathologies: Large and Giant Congenital nevi, familial hamartoma follicularis and Phacomatosis Pigmento Vascularis.

4. Study of the mechanisms involved in carcinogenesis and photocarcinogenesis.

  • 4.1 Analysis of topical and oral photoprotection.
  • 4.2 Study of the UV effect in skin and melanocytic nevi using imaging techniques and high-throughput molecular technologies.
  • 4.3 Investigation of somatic mutations of NRAS, BRAF, cKIT, RAC1, STK19, genomic amplifications of different oncogenes (TERT, AURKA, CCND1), and genomic losses of 9p21 in melanoma.
  • 4.4 DNA repair mechanisms and their therapeutic implications.

5. Development of new treatment strategies for melanoma and other skin tumours.

  • 5.1 Research in the dermatological implications of targeted therapies in melanoma.
  • 5.2 Immunotherapy in melanoma.
  • 5.3 Development of new strategies in the treatment of the field cancerization.
  • 5.4 Inhibition of the Hedgehog pathway for the treatment of basal cell carcinomas.
  • 5.5 Specific immunotherapy in Merkel carcinoma.
  • 5.6 Photodynamic therapy for melanoma.

6. Evaluation of immune response in melanoma.

  • 6.1 Identification of polymorphisms in genes implicated in immunotolerance and immunoresponse that influence melanoma prognosis.
  • 6.2 Analysis of the influence of the microbiota in skin cancer.
  • 6.3 Identification of biomarkers for melanoma : study of circulating free DNA (cfDNA) or isolation of circulating melanoma cells (CMC) and single cell sequencing.