IDIBAPS, Institut d'Investigacions Biomèdiques August Pi i Sunyer

Main lines of research

Our main lines of research, and some of the most relevant results obtained to date, are the following:

1. Dermatoscopy and digital dermatoscopy. In dermatoscopy studies are being made of the diagnostic criteria of different disorders that have still not been well characterized, the correlations with other imaging techniques, the impact upon the management of patients at risk, and the relationship between dermatoscopy and the genetic profile of the patients. In digital dermatoscopy we are examining the use of full body maps and digital dermatoscopy in the follow-up of patients at risk.

1.1 Definition of new dermatoscopic criteria in different dermatological processes (dermatofibromas, angiokeratomas, botryomycosis, blue nevus, xanthogranuloma, leishmaniasis, lichenoid keratosis, collision tumors).
1.2 Development of dermatoscopy for introduction in primary care, in pathology and dermatology (development of combined clinical dermatoscopic algorithms for the identification of melanomas that are difficult to diagnose).
1.3 Combined dermatoscopic and ultrasound protocol of the primary tumor for preoperative Breslow score estimation.

2. Confocal microscopy in vivo. Description of new algorithms, study of the evolution of lesions, new classifications and the use of telemedicine.

2.1 Definition of criteria in nodular melanoma.
2.2 Creation of a differential diagnostic algorithm for melanocytic and non-melanocytic lesions.
2.3 Characterization of pigmented basal cell carcinomas.
2.4 Study of the use of confocal microscopy for the correct treatment of achromatic or poorly delimited lesions (delimitation of surgical margins or control of relapses).
2.5 Use of ex vivo confocal microscopy for application to Mohs surgery.

3. Genetic epidemiology. Study of melanoma susceptibility genes in familial melanoma and in sporadic melanoma. Study of nevogenicity and risk genes in melanoma. Study of pigmentation and risk genes in melanoma. Identification of new genes and new mechanisms of melanoma susceptibility using Genome Wide Scan.

3.1 Penetrance and phenotypic expression studies in patients and families carrying known CDKN2A and p14arf mutations.
3.2 Study of the effect of polymorphisms of the MC1R gene as modifier gene and low penetrance gene in relation to melanoma risk, and in reference to the clinical and dermatoscopic aspects of melanomas.
3.3 Identification of new melanoma and nevogenicity susceptibility genes based on the study of homozygous genome regions.

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

4.1 Analysis of oral photoprotection. Study of genetic (CDKN2A, MC1R)/environmental interaction (UVR) in melanoma risk. Study of the influence of ultraviolet radiation (UVR) (UVA; UVB; UVA/UVB) in the dermatoscopic, histological and immunohistochemical characteristics of melanocytic nevi.
4.2 Dermatoscopic and genetic characterization of the different Clark nevi in dysplastic nevus syndrome, in relation to c9orf14 polymorphisms.
4.3 Investigation of somatic mutations of NRAS, BRAF, cKIT, genomic amplifications of different oncogenes, and genomic losses of 9p21 (MLPA) in melanoma
4.4 Expression studies (MAGE and others) in melanoma.
4.5 Development of experimental models of gene/gene, gene/environment interactions between CDKN2A and MC1R. Expression studies in keratinocytes, melanocytes and fibroblasts according to their genetic profile.

5. Development of new treatment strategies for melanoma.

5.1 Hyperthermal perfusion of extremities
5.2 Vaccines and new therapeutic targets in melanoma.
5.3 Electrochemotherapy in melanoma.

6. Evaluation of immune response in melanoma.

6.1Genetic expression arrays and studies of SNPs associated with prognosis and treatment response.