IDIBAPS, Institut d'Investigacions Biomèdiques August Pi i Sunyer

Main lines of research

The principal lines of research that we carry out and some of the most relevant results obtained recently are the following:

1. Dermatoscopy and digital dermatoscopy. In dermatoscopy, we are studying the diagnostic criteria of different entities that are not yet well characterized, the correlations with other imaging techniques, the impact on care of at-risk patients and the relationship between dermatoscopy and the patient’s genetic profile. In digital dermatology, we are analyzing the use of total body maps and digital dermatoscopy in monitoring at-risk patients.
1.1 Definition of new dermatoscopic criteria for different dermatologic processes (dermatofibroma, angiokeratoma, botryomycoma and blue nevus).
1.2 Development of dermatoscopy for implementation in primary care, anatomical pathology and dermatology (development of combined dermatoscopic clinical algorithms for identifying difficult-to-diagnose melanomas).
1.3 Combined dermatoscopy and ECO of the primary tumor for preoperative estimation of Breslow.

2. In vivo confocal microscopy. Description of new algorithms, study of the course of the lesions, new classifications and use in telemedicine.
2.1 Definition of criteria in nodular melanoma.
2.2 Creation of an algorithm for differential diagnosis of melanocytic and nonmelanocytic lesions.
2.3 Characterization of pigmented basal cell carcinoma.
2.4 Study of the use of confocal microscopes for the correct treatment of achromatic or poorly defined lesions (definition of surgical margins or control of recurrences).

3. Genetic epidemiology. Study of genes conferring susceptibility to melanoma in family melanoma and sporadic melanoma. Study of nevus genes and risk of melanoma. Study of pigmentation genes and risk of melanoma. Identification of new genes and new mechanisms of susceptibility in melanoma using a genome-wide scan.
3.1 Studies of penetration and phenotype expression in patients and families carrying known mutations in CDKN2A and p14arf.
3.2 Study of the effect of polymorphisms un the MC1R gene as a modifier gene and low-penetration gene for melanoma risk and in clinical and dermatoscopic aspects of melanomas.
3.3 Study of polymorphisms in c9orf14 in patients and controls (>100 nevus vs <20 nevus) as a susceptibility gene for nevus.

4. Study of the mechanisms involved in carcinogenesis and photocarcinogenesis in melanoma. Analysis of oral photoprotection. Study of genetic interaction (CDKN2A, MC1R)/environment (RUV) in risk of melanoma.
4.1 Study of the influence of ultraviolet radiation (UVA, UVB, UVA/UVB) on the dermatoscopic, histologic and immunohistochemical characteristics of melanocytic nevus.
4.2 Dermatoscopic and genetic characterization of the different Clark nevus in dysplastic nevus syndrome in relation to polymorphisms in c9orf14.
4.3 Research on somatic mutations of NRAS, BRAF, genome amplifications of several oncogenes and genome loss of 9p21 (MLPA) in melanoma.
4.4 Studies of expression of metastatic microdisease (Tyr, MAGE, MART) in sentinel ganglia.

5. Development of therapeutic vaccines and other new therapeutic strategies for melanoma.
5.1 Incorporation of TNF in hyperthermal perfusion treatment of limbs.
5.2 Establishment of the bases for optimizing the generation, antigen loading and maturation of dendritic cells for therapeutic use.
5.3 Start of adaptation to good manufacturing practice (GMP) conditions in the “white laboratory” of the group’s current lines.

6. Evaluation of the immune response to melanoma.
6.1 Study of IL10 and other cytokines in the response to immune treatment.