Susana Puig

Susana Puig
Hospital Clínic de Barcelona · Servicio de Dermatología

Consultant

About

742
Publications
223,369
Reads
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19,908
Citations
Introduction
I am the Head of the Dermatology Service at the Hospital Clínic in Barcelona. I am a dermatologist working in melanoma imaging and genetics for more than 20 years. I am also interested in skin cancer, genetics, epigenetics and therapy. I am the head of the research team "Melanoma: imaging, genetics and immunology" at the IDIBAPS, Barcelona. Our research lab is in the new research building, Esther Koplovitz, in Barcelona. I am professor at the University of Barcelona.
Additional affiliations
November 2015 - November 2019
Hospital Clínic de Barcelona
Position
  • Consultant
September 2012 - present
University of Barcelona
Position
  • Professor (Associate)
January 2011 - present
Universitat de Lleida

Publications

Publications (742)
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Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly heterogeneous and both genetic and environmental factors play an important role in many of them. The introduction o...
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While several high-penetrance melanoma risk genes are known, variation in these genes fail to explain melanoma susceptibility in a large proportion of high-risk families. As part of a melanoma family sequencing study, including 435 families from Mediterranean populations we identified a novel NRAS variant (c.170A > C, p.D57A) in an Italian melanoma...
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Background Many patients with low-stage cutaneous melanoma will experience tumor recurrence, metastasis, or death, and many higher-staged patients will not. Objective Develop an algorithm by integrating the 31-gene expression profile test with clinicopathologic data for an optimized, personalized risk of recurrence (i31-ROR) or death and use i31-R...
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Background: Around 0.5% cutaneous melanoma (CM) patients will present with synchronous melanomas when first seen. Moreover, 26%-40% of patients with multiple primary melanomas present with synchronous lesions. Objectives: To assess the prevalence, clinical and histopathological characteristics, germline mutations and outcome in patients with syn...
Article
Background: Sinonasal mucosal melanoma is an aggressive malignancy with a 5-year survival rate ranging from 20% to 39%. Despite the evolving surgical and radiotherapy techniques, and introduction of immune-checkpoint inhibitor therapy, overall survival rates remain poor. Methodology: A retrospective cohort study was conducted at the Hospital Clínic...
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Background: Hypomorphic MC1R variants are the most prevalent genetic determinants of melanoma risk in the Caucasian population. However, the genetic background of wild-type (WT) MC1R melanoma patients is poorly studied. Objectives: To analyse the role of candidate common genetic variants on the melanoma risk and the naevi count in Spanish wild-t...
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Background: Disseminated BRAFV600E melanoma responds to BRAF inhibitors (BRAFi) but easily develops resistance with poor prognosis. Secretome plays a pivotal role during tumour progression causing profound effects on therapeutic efficacy. Secreted M-CSF is involved in both cytotoxicity suppression and tumour progression in melanoma. We aimed to an...
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Sonidegib is a Hedgehog signalling pathway inhibitor approved for use in patients with advanced basal cell carcinoma (BCC) not eligible for surgery or radiotherapy. This report describes clinical experience with sonidegib in two patients with locally advanced BCC (one with a tumour adjacent to the right eye and the other with a tumour associated wi...
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Electrical impedance spectroscopy has clinical relevance in diagnosing malignancy in melanocytic lesions. Sixty-eight lesions with changes during digital follow-up of patients at very high risk of developing melanoma were prospectively included in this study from February to December 2016. Electrical impedance spectroscopy and reflectance confocal...
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Background Previous studies of artificial intelligence (AI) applied to dermatology have shown AI to have higher diagnostic classification accuracy than expert dermatologists; however, these studies did not adequately assess clinically realistic scenarios, such as how AI systems behave when presented with images of disease categories that are not in...
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We recently reported a RAF rearrangement without NRAS or BRAF mutations in lesions from Giant Congenital Melanocytic Nevi (CMN). The new gene fusion involves the 5’ end of the promoter‐containing N terminus of the SOX5 gene fused to exons 7‐16 of the 3’ end of RAF1 gene leading to a SOX5‐RAF1 fusion transcript which loss the auto‐inhibitory CR1 dom...
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Background β-adrenergic receptors are upregulated in melanoma cells and contribute to an immunosuppressive, pro-tumorigenic microenvironment. This study investigated the prognostic and predictive value of β-adrenoreceptor blockade by β-blockers in the EORTC1325/KEYNOTE-054 randomised controlled trial. Methods Patients with resected stage IIIA, III...
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To date, is yet to be elucidated whether the body location of cutaneous melanoma can significantly affect an early dermoscopic diagnosis and, consequently, if it can be regarded as a prognostic factor. To investigate the dermoscopic appearance of early melanomas (EMs) at different body sites; to test the ability of dermoscopists in recognizing spec...
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The composition of the gut microbiome has been associated with clinical responses to immune checkpoint inhibitor (ICI) treatment, but there is limited consensus on the specific microbiome characteristics linked to the clinical benefits of ICIs. We performed shotgun metagenomic sequencing of stool samples collected before ICI initiation from five ob...
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Background and objective: Accurate information on the incidence of melanoma by stage and a better understanding of transition between stages are important for determining the burden of disease and assessing the impact of new adjuvant therapies on recurrence and survival. The aim of this study was to estimate the incidence rates of the various stage...
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Immune-related adverse events (irAEs) are frequent and could be associated with improved response to immune checkpoint inhibitors (ICIs). A prospective cohort of advanced melanoma patients receiving ICI as first-line therapy was retrospectively reviewed (January 2011–February 2019). A total of 116 of 153 patients presented with at least one irAE (7...
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Background: Fifteen to forty percent of patients with localized cutaneous melanoma (CM) (stages I-II) will experience disease relapse. The 31-gene expression profile (31-GEP) uses gene expression data from the primary tumor in conjunction with clinicopathologic features to refine patient prognosis. The study's objective was to evaluate 31-GEP risk...
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Actinic keratosis (AK) is the main risk factor for the development of cutaneous invasive squamous cell carcinoma (SCC). It represents the first sign of severe chronic ultraviolet radiation exposure, which has a clear significant effect. Nevertheless, the skin is exposed to many other exposome factors which should be thoroughly considered. Our aim w...
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Introduction: Most skin disorders, such as atopic dermatitis, psoriasis, skin cancer or age-related skin issues, are the result of a complex interaction between genetic and environmental factors over time. As an external organ, the skin provides the opportunity to study the link between exposure to the environment and several specific biological r...
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Background: Basosquamous carcinoma (BSC) is a rare and potentially aggressive cutaneous neoplasm combining histopathological features of basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Line-field confocal optical coherence tomography (LC-OCT) is a new, non-invasive imaging technique featuring excellent resolution and penetration. To...
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Introduction The incidence of cutaneous melanoma is rising fast, and its prevalence has doubled in the past 3 decades. Detailed local epidemiological information is essential for informing community-based prevention strategies and optimizing hospital resources. Material and methods We included all patients diagnosed with cutaneous melanoma at Hosp...
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Background Congenital nail matrix nevi (NMN) are difficult to diagnose because they feature clinical characteristics suggestive of adult subungual melanoma (SUM). Nail matrix biopsy is difficult to perform, especially in children. Objective To describe the initial clinical and dermoscopic features of NMN appearing at birth (congenital) or after bi...
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CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the Na...
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Diagnosis based on histopathology for skin cancer detection is today’s gold standard and relies on the presence or absence of biomarkers and cellular atypia. However it suffers drawbacks: it requires a strong expertise and is time-consuming. Moreover the notion of atypia or dysplasia of the visible cells used for diagnosis is very subjective, with...
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The therapeutic value of sentinel lymph node biopsy (SLNB) in thin melanoma remains controversial. The aim of this study is to determine the role of SLNB in the survival of thin melanomas (≤1 mm). A multicenter retrospective observational study was designed. A propensity score matching was performed to compare patients who underwent SLNB vs. observ...
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Introduction L’exposition solaire chronique est responsable du vieillissement cutané. Des techniques d’imagerie non-invasives peuvent caractériser le photovieillissement morphologiquement et générer une analyse qualitative des dommages cutanés photo-induits. La tomographie par cohérence optique (OCT) crée des images de la peau in vivo en coupe vert...
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Introduction Chez l’homme, l’application topique de nicotinamide empêche l’immunosuppression induite par les UV mais pas les coups de soleil. Le nicotinamide augmente la production d’ATP ainsi que la réparation de l’ADN et prévient l’apoptose. Notre objectif était de déterminer l’effet biologique d’un écran solaire UVB-UVA à large spectre contenant...
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Background: The ABCDE rule systematizes warning signs for malignant melanoma (MM). Objectives: To evaluate whether the ABCDE signs are associated with early detection of MM. Materials & methods: Based on a retrospective study over 11.5 years, we assessed whether ABCDE signs are associated with early diagnosis of MM. Results: In total, 144 MM...
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Linked Article: Català et al. Br J Dermatol 2022; 186:142–152.
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An accurate T-cell quantification is prognostically and therapeutically relevant in various malignancies. We previously developed a digital PCR-based approach offering a precise T-cell enumeration in small amounts of DNA. However, it may be challenging to apply this methodology in malignant specimens, as copy number instability can disturb the unde...
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Background and objective: Accurate information on the incidence of melanoma by stage and a better understanding of transition between stages are important for determining the burden of disease and assessing the impact of new adjuvant therapies on recurrence and survival. The aim of this study was to estimate the incidence rates of the various stage...
Article
Full-text available
Introduction The incidence of cutaneous melanoma is rising fast, and its prevalence has doubled in the past 3 decades. Detailed local epidemiological information is essential for informing community-based prevention strategies and optimizing hospital resources. Material and methods We included all patients diagnosed with cutaneous melanoma at Hosp...
Article
Background: In the phase III double-blind European Organisation for Research and Treatment of Cancer 1325/KEYNOTE-054 trial, pembrolizumab improved recurrence-free and distant metastasis-free survival in patients with stage III cutaneous melanoma with complete resection of lymph nodes. In the pembrolizumab group, the incidence of grade I-V and of...
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Familial melanoma accounts for 10% of cases, being CDKN2A the main high-risk gene. However, the mechanisms underlying melanomagenesis in these cases remain poorly understood. Our aim was to analyze the transcriptome of melanocyte-keratinocyte co-cultures derived from healthy skin from familial melanoma patients vs. controls, to unveil pathways invo...
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A family history of melanoma greatly increases the risk of developing cutaneous melanoma, a highly aggressive skin cancer whose incidence has been steadily increasing worldwide. Familial melanomas account for about 10% of all malignant melanomas and display an inheritance pattern consistent with the presence of pathogenic germline mutations, among...
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Background: Colorectal cancer screening programs have accomplished a mortality reduction from the disease but have created bottlenecks in endoscopy units and pathology departments. We aimed to explore the feasibility of ex vivo fusion confocal microscopy (FuCM) to improve the histopathology diagnostic efficiency and reduce laboratory workload. Me...
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The aim of this study was to compare tumour burden in patients who underwent surgery for melanoma and cutaneous squamous cell carcinoma during nationwide lockdown in Spain due to COVID-19 (for the period 14 March to 13 June 2020) and during the same dates in 2019 before the COVID-19 pandemic. In addition, associations between median tumour burden (...
Article
Line-field confocal optical coherence tomography (LC-OCT) is a non-invasive imaging technique that was recently developed, combining high penetration depth (up to 500-µm, approaching that of conventional OCT) with high isotropic resolution [lateral: 1.3 µm; axial: 1.1 µm – similar to that of reflectance confocal microscopy (RCM)].
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Purpose Ataxia–Telangiectasia Mutated ( ATM ) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked to melanoma, few functional alleles have been identified. Therefore, ATM impact on melanoma predisposition is unclear. Methods F...
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The recent WHO classification of skin tumors has underscored the importance of acknowledging intermediate grade melanocytic proliferations. A multistep acquisition of oncogenic events drives the progressive transformation of nevi into melanomas. The various pathways described are modulated by the initial oncogenic drivers that define the common, bl...
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Resumen Introducción: La incidencia del melanoma cutáneo está aumentando rápidamente y ha duplicado su prevalencia durante las últimas tres décadas. Tener un conocimiento detallado de la epidemiología local es fundamental para el desarrollo de estrategias de prevención comunitaria y optimizar los recursos hospitalarios. Material y métodos: Se inclu...
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The development of immune checkpoints from which tumor cells escape has revolutionized oncology in the past decade. However, its use is not indicated for solid organ transplant (SOT) recipients who wish to develop a state of immune tolerance to preserve the graft. The dysregulation of the immune system furthermore poses these patients at a higher r...
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Alzheimer’s (AD) and Parkinson’s diseases (PD) are the two most prevalent neurodegenerative disorders in human populations. Epidemiological studies have shown that patients suffering from either condition present a reduced overall risk of cancer than controls (i.e., inverse comorbidity), suggesting that neurodegeneration provides a protective effec...
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Purpose Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach. Methods Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic melanoma cohort. Functional effects of duplication...
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Reflectance confocal microscopy (RCM) has been widely demonstrated to improve the noninvasive diagnostic accuracy of melanocytic tumors¹. Some studies have focused on studying the use of teleconsultation of RCM images with experts as a promising opportunity for those doctors who have little experience in the field². The clinical diagnosis of Sutton...
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Inherited pathogenic variants (PVs) in the CDKN2A tumor suppressor gene are among the strongest risk factors for cutaneous melanoma. Dysregulation of the p16/RB1 pathway may intrinsically limit the activity of MAPK-directed therapy due to the interplay between the two pathways. In our study, we assessed, for the first time, whether patients with ge...
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Given recent developments in the treatment of metastatic melanoma, early detection of disease recurrence is crucial. The aim of this single-centre retrospective cohort study was to investigate the impact of the initial stage of primary melanoma on the pattern and timing of disease recurrence and post-recurrence survival. Patients diagnosed with cut...
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In this article we examine the most important genetic markers involved in melanoma susceptibility, initiation and progression, and their impact on the prognosis of the disease. Current knowledge in melanoma genetics identifies distinct pathways to the development of different melanoma subtypes characterized by specific clinico-pathological features...
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Surgical attempts to remove large/giant congenital melanocytic naevi (LGCMN) are supported mainly by the theoretical improvement in patients' self-image; however such surgery can result in unaesthetic scarring. We hypothesize that difference in appearance itself has an impact, and hence surgery cannot negate this impact. The aim of this cross-secti...
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Background Before February, 2021, there was no standard treatment regimen for locally advanced basal cell carcinoma after first-line hedgehog inhibitor (HHI) therapy. Cemiplimab, a PD-1 antibody, is approved for treatment of advanced cutaneous squamous cell carcinoma and has shown clinical activity as monotherapy in first-line non-small-cell lung c...
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Background Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited. Methods Individuals from an international consortium of melanoma-prone families (GenoMEL) were retrospectively asked abo...
Article
Background The European Organisation for Research and Treatment of Cancer (EORTC) 1325-MG/KEYNOTE-054 trial in patients with resected, high-risk stage III melanoma demonstrated improved recurrence-free survival with adjuvant pembrolizumab compared with placebo (hazard ratio 0·57 [98·4% CI 0·43–0·74]; p<0·0001). This study reports the results from t...
Article
Background The European Organisation for Research and Treatment of Cancer (EORTC) 1325/KEYNOTE-054 trial assessed pembrolizumab versus placebo in patients with resected high-risk stage III melanoma. At 15-month median follow-up, pembrolizumab improved recurrence-free survival (hazard ratio [HR] 0·57 [98·4% CI 0·43–0·74], p<0·0001) compared with pla...