Research led from Lleida identifies a potential biomarker for the behaviour of melanomas

Research led by the Departments of Dermatology, Pathology and Molecular Genetics of the Hospital Universitari Arnau de Vilanova de Lleida (HUAV) and the Oncological Pathology research group of the Universitat de Lleida (UdL) and the Institute for Research in Biomedicine of Lleida (IRBLleida) has identified a potential biomarker, variations in the BRAF gene mutation, to explain the behaviour of melanoma, a rare skin cancer. Specifically, the research, published in the journal Cancers (Basel) of high scientific and biomedical interest, correlates histopathological (observation of cells and tissues affected by a disease) and molecular characteristics with the location and prognosis of primary melanomas.

A high percentage of cutaneous melanomas present a mutation in the BRAF oncogene. The Lleida oncology research group, through the analysis of a cohort of primary melanomas from the IRBLleida Biobanc diagnosed in HUAV patients, has advanced the research by suggesting that a high variation of the mutated allele frequency (MAF) of BRAFV600E correlates with cutaneous melanomas composed of elongated cells and the presence of a high infiltration by cells of the immune system. In addition, these tumours would be more frequently located on the trunk of the person and their first metastasis would preferentially reside in the patients' lymph nodes. In contrast, a low MAF variation of BRAFV600E would be seen more frequently in cutaneous melanomas composed of more rounded cells with a lower immune infiltrate. In the latter cases, the primary melanoma would develop predominantly on the extremities, with the first metastasis most frequently located on the skin itself.

Cutaneous melanoma shows great variability in presentation, evolution and prognosis. In early stages, it can be cured with wide local excision. In contrast, advanced melanoma is associated with the development of metastases that confer a poor prognosis. For this reason, advances in research are focused on understanding its origin and development. The research has also involved the collaboration of researchers from the Barts Cancer Institute of Queen Mary University of London.

According to Xavier Soria, a doctor from the HUAV's Section of Medical-Surgical Dermatology and Venerology and researcher, the findings of this research work "propose that the MAF variation of BRAFV600E could constitute a potential biomarker of melanoma behaviour and serve as an initial step for the development of therapies focused on the presence of worse histopathological characteristics in cutaneous melanomas with high variation of this genetic trait".

This research, led by the professor of the Universitat de Lleida and researcher, Anna Macià, and the head of the Section of Medical-Surgical Dermatology and Venerology of the HUAV, professor of the UdL and researcher, Rosa Maria Martí, has been possible thanks to the support of grants from the Instituto de Salud Carlos III and FEDER ("a way of doing Europe") (PI15/00711, PI18/00573), the Centro de Investigación Biomédica en Red Cáncer (CIBERONC: CB16/12/00231), the Spanish Association Against Cancer (POSTD004MACI - POSTD16) and the University of Lleida. It has also been supported by the Catalan Oncology Master Plan of the Catalan Tumour Bank Network, the IRBLleida Biobank and the Biobanks Platform (PT17/0015/0027; PT20/00021).

Research article: Soria X, Vilardell F, Maiques Ó, Barceló C, Sisó P, de la Rosa I, Velasco A, Cuevas D, Santacana M, Gatius S, Matías-Guiu X, Rodrigo A, Macià A, Martí RM. BRAFV600E Mutant Allele Frequency (MAF) Influences Melanoma Clinicopathologic Characteristics. Cancers (Basel). 2021 Oct 11;13(20):5073. doi: 10.3390/cancers13205073. PMID: 34680222; PMCID: PMC8533792.

Article: Soria X, Vilardell F, Maiques Ó, Barceló C, Sisó P, de la Rosa I, Velasco A, Cuevas D, Santacana M, Gatius S, Matías-Guiu X, Rodrigo A, Macià A, Martí RM. BRAFV600E Mutant Allele Frequency (MAF) Influences Melanoma Clinicopathologic Characteristics. Cancers (Basel). 2021 Oct 11;13(20):5073. doi: 10.3390/cancers13205073. PMID: 34680222; PMCID: PMC8533792.