At the 2023 Congress of the Spanish Academy of Dermatology and Venereology, several members of the Dermatology Service of the Vall d'Hebron University Hospital and the Biomedical Research in Melanoma group of the Vall d'Hebron Research Institute (VHIR) have been distinguished. Dr. Vicente García-Patos, co-head of the research group and Head of Service, received the distinction of honour for the most outstanding professional career with national and international projection. The other awards were the best oral communication, a paper on the signs of hamartomatous-tumour syndrome associated with the PTEN gene presented by Dr. Álvaro Guerra; and a second prize for the best oncology poster, for a study on the systemic treatment of melanoma in patients who have received a solid organ transplant, led by Drs. Carlos González-Cruz, Carla Ferrándiz-Pulido and Vicente García-Patos.

Tribute to a 30-years career

"The mirror in which we would like to reflect ourselves", is how the Academy announced the distinction of honour for the best professional career with international projection to Dr. Vicente García-Patos. The award recognises his 30-year career dedicated to complex dermatology, working both directly in healthcare and in research and teaching. In addition to his work, Dr. García-Patos has been involved in other aspects of the discipline, for example, promoting the creation of the lifelong learning platform during his time as vice-president of the board of directors of the Spanish Academy of Dermatology and Venereology.

Dr Garcia-Patos was very humbled by the award, which he considers "more than an individual recognition, it is an acknowledgement of the work of my entire team".

Accelarating the diagnosis of hamartomatous-tumour syndrome associated with the PTEN gene

The prize for the best oral communication presented at the congress went to a multidisciplinary work led by the Dermatology Service of Vall d'Hebron in which it was specified the typical cutaneous manifestations of PTEN-associated hamartomatous-tumour syndrome.

This group of inherited disorders caused by mutations in the PTEN gene causes patients to develop numerous benign tumours, most often in the skin, mouth and gastrointestinal tract, but they can appear throughout the body. The syndrome increases cancer risk in a variety of cancers such as melanoma, thyroid and breast cancer. Although it is genetic and therefore present at birth, signs that cause alarm are not seen until maturity and, once they appear, there is an average 13-year delay in diagnosis, which hinders treatment.

The new study has characterised the cutaneous manifestations of the syndrome in both childhood and adolescence to facilitate diagnosis. These are, during early childhood, dotted keratosis on the palms and soles and spots (lentigines) on the penis, although they are non-specific, as they can indicate a number of different pathologies. In adolescence, more singular manifestations of the syndrome occur, such as papules on the face and changes in the gums with a cobblestone appearance.

Dr. Álvaro Guerra, a third-year resident in the Dermatology Department, points out that "the early identification of specific cutaneous manifestations, many of which are subtle, could help to reduce this diagnostic delay, which would allow these patients to benefit from screening before developing neoplasms".

Melanoma treatment in patients who have received solid organ transplants

A poster with the results of the study led by Doctors Carlos González Cruz-Cruz, Carla Ferrándiz-Pulido and Vicente García-Patos, all from Vall d'Hebron, has been selected as the second-best oncology poster of the congress.

It is a work that has analysed the best therapeutic guideline for solid organ recipient patients who also have advanced melanoma. Currently, the best treatment for this type of cancer is immunotherapy, which has given great results, but entails a high risk of rejection of the transplanted organ.

The conclusions of the paper are that if the transplanted organ is a kidney, treatment with immunotherapy is recommended, since in case of rejection, there is the option of haemodialysis. In the case of patients transplanted with other organs, if they have a BRAF mutation, they can be treated with targeted therapies. The study showed that these two treatments gave a complete response in 25% of cases. If the BRAF mutation is not present, other specific oncogenic pathways involved in the development of melanomas in these patients must be sought in order to develop or use other target drugs.

The research team hopes that this study will help to focus future research in the area of melanoma, especially in order to find and signal additional oncogenic pathways in besides BRAF.