Eduardo Nagore - Academia.edu (original) (raw)

Papers by Eduardo Nagore

British Journal of Dermatology, 2012

Euromelanoma is a dermatologist-led skin cancer prevention programme conducting an annual screeni... more Euromelanoma is a dermatologist-led skin cancer prevention programme conducting an annual screening and public education campaign in over 20 European countries. Within its 10-year history, Euromelanoma has screened over 260,000 individuals across Europe, detecting a significant number of cutaneous melanomas and nonmelanoma skin cancers, identifying high-risk individuals for further surveillance and promoting awareness on the suspicious features of melanoma and the hazardous effects of ultraviolet exposure. In this review article, we summarize the history of the Euromelanoma campaign, present its organizational structure and discuss the results of the campaign in individual countries and on a European scale. Euromelanoma has had a significant impact on melanoma prevention and early diagnosis in participating countries and, despite many challenges, has positively influenced public health attitudes towards regular mole examination and the implementation of preventive measures against skin cancer.

British Journal of Dermatology, 2014

Background The presence of multiple melanocytic naevi is a strong risk factor for melanoma. Use o... more Background The presence of multiple melanocytic naevi is a strong risk factor for melanoma. Use of the whole body naevus count to identify at-risk patients is impractical.

PLOS ONE, 2015

Familial history of melanoma is a well-known risk factor for the disease, and 7% melanoma patient... more Familial history of melanoma is a well-known risk factor for the disease, and 7% melanoma patients were reported to have a family history of melanoma. Data relating to the frequency and clinical and pathological characteristics of both familial and non-familial melanoma in Spain have been published, but these only include patients from specific areas of Spain and do not represent the data for the whole of Spain.

Pediatric …, 1998

Cysts of the median raphe are embryologic developmental anomalies of the male genitalia. Although... more Cysts of the median raphe are embryologic developmental anomalies of the male genitalia. Although generally present since birth, these lesions tend to manifest in adult life. Histologically the cysts are characterized by a pseudostratified epithelium in the middle dermis. The early age at consultation is a common characteristic in four of the five patients reported herein and is probably due to the growing concern among the general population about skin problems.

Nature communications, 2015

In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma... more In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained.

Background European guidelines for the management of basal cell carcinoma (BCC) prepared by the f... more Background European guidelines for the management of basal cell carcinoma (BCC) prepared by the former BCC subcommittee of the Guidelines Committee of the European Dermatology Forum (EDF) were published in 2006. Objectives To present updated guidelines that include consensual expert definitions on various BCC types, prognosis and risk factors for BCC as well as review recommendations for diagnosis and treatment reflecting current published evidence. Methods These guidelines (S1 type) were prepared by the new BCC subgroup of the European Dermatology Forum (EDF)'s Guidelines Committee through extensive literature review (up to 2012) and expert experience; they were extensively discussed within the EDF subcommittee and approved by peer reviewers of the EDF. Results BCC is a common tumour with an incidence rising worldwide. Three major clinical types of BCC are recognized: nodular, superficial and morpheaform. Four histological subtypes are defined: superficial, nodular, infiltrative and morpheaform. On the basis of the risk of relapse, three prognosis groups have been identified: high, intermediate and low risk. According to these classifications and evidence-based evaluation of the therapeutic strategies available, a decision tree is proposed for the management of BCCs. Conclusions. The guidelines offer a useful tool that will help dermatologists to select the most appropriate treatment for individual patients.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, Jan 27, 2015

Background: Awareness of individual risk may encourage improved prevention and early detection of... more Background: Awareness of individual risk may encourage improved prevention and early detection of melanoma. Methods: We evaluated the accuracy of self-reported pigmentation and nevus phenotype compared to clinical assessment, and examined agreement between nevus counts from selected anatomical regions. The sample included 456 cases with invasive cutaneous melanoma diagnosed between ages 18-39 years and 538 controls from the population-based Australian Melanoma Family Study. Participants completed a questionnaire regarding their pigmentation and nevus phenotype, and attended a dermatologic skin examination. Results: There was strong agreement between self-reported and clinical assessment of eye color (kappa, κ, =0.78, 95% confidence interval (CI) 0.74-0.81); and moderate agreement for hair color (κ =0.46, 95% CI 0.42-0.50). Agreement between self-reported skin color and spectrophotometer-derived measurements was poor (κ =0.12, 95% CI 0.08-0.16) to moderate (Spearman correlation rs=-0...

Journal of the American Academy of Dermatology, 2015

Background: Sturge-Weber syndrome (SWS) is characterized by port-wine stains (PWS) affecting the ... more Background: Sturge-Weber syndrome (SWS) is characterized by port-wine stains (PWS) affecting the face, eyes, and central nervous system. Pulsed dye laser (PDL) is the standard treatment for PWS. Unfortunately, recurrence is frequent because of reformation and reperfusion of blood vessels.

In humans, it is not possible to obtain experimental evidence of when a cancer begins to metastas... more In humans, it is not possible to obtain experimental evidence of when a cancer begins to metastasize. The purpose of this study was to estimate the time of onset of metastatic dissemination in cutaneous melanoma using a model based on its growth rate (GR). The critical time of onset of metastatic dissemination below which no cases of fatal melanomas were

JAMA Dermatology, 2014

The influence of regression on the status of the sentinel node (SN) is controversial. In many cen... more The influence of regression on the status of the sentinel node (SN) is controversial. In many centers, the presence of regression in thin melanomas supports the performance of an SN biopsy. To identify whether regression in primary melanoma has any influence on SN involvement. Retrospective study of melanomas with a Breslow thickness greater than 0.75 mm and undergoing SN biopsy from January 1, 2003, through December 31, 2010, at Instituto Valenciano de Oncología, which receives melanoma patients from regional hospitals and dermatology practices. Only cases with paraffin blocks or histologic slides representative of the primary tumor and available for review were included in the study. Melanomas from 201 patients met these criteria and constitute the core of this study. Sentinel node biopsy in melanoma. Presence or absence of regression in the primary melanoma, type (early vs late), and extension were correlated with the presence or absence of metastasis in the SNs. In addition, the main clinical and histologic characteristics of the primary melanoma were correlated with the status of SN and the regression features. Regression was found in 52 melanomas (25.9%). Regression did not show a statistically significant association with SN status. When melanomas were subdivided by Breslow thickness into 4 groups, those with regression had a lower frequency of positive SNs in 3 of the 4 groups (≤1.00, 1.01-2.00, and &amp;amp;amp;amp;amp;gt;4.00 mm), although differences did not reach statistical significance in any group. We found no influence by type of regression or its extension on the SN status. Regression was found more frequently in thin melanomas (≤1.00 mm), melanomas located on an axial site, and superficial spreading or lentigo maligna melanoma types (P = .02, P &amp;amp;amp;amp;amp;lt; .001, and P = .03, respectively). Regression of the primary melanoma is not associated with a higher proportion of positive SNs. These data do not support the practice of performing SN biopsy in thin melanomas with regression in the absence of additional adverse prognostic characteristics.

PloS one, 2014

Single nucleotide-polymorphisms (SNPs) are a source of diversity among human population, which ma... more Single nucleotide-polymorphisms (SNPs) are a source of diversity among human population, which may be responsible for the different individual susceptibility to diseases and/or response to drugs, among other phenotypic traits. Several low penetrance susceptibility genes associated with malignant melanoma (MM) have been described, including genes related to pigmentation, DNA damage repair and oxidative stress pathways. In the present work, we conducted a candidate gene association study based on proteins and genes whose expression we had detected altered in melanoma cell lines as compared to normal melanocytes. The result was the selection of 88 loci and 384 SNPs, of which 314 fulfilled our quality criteria for a case-control association study. The SNP rs6854854 in ANXA5 was statistically significant after conservative Bonferroni correction when 464 melanoma patients and 400 controls were analyzed in a discovery Phase I. However, this finding could not be replicated in the validation...

Nature Genetics, 2014

Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genet... more Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.24493086C>T; p.Ser270Asn) in five unrelated melanomaprone families from Romagna, Italy. Carriers of this variant had increased telomere lengths and numbers of fragile telomeres, suggesting that this variant perturbs telomere maintenance. Two additional rare POT1 variants were identified in all cases sequenced in two separate Italian families, one variant per family, yielding a frequency for POT1 variants comparable to that for CDKN2A mutations in this population. These variants were not found in public databases or in 2,038 genotyped Italian controls. We also identified two rare recurrent POT1 variants in US and French familial melanoma cases. Our findings suggest that POT1 is a major susceptibility gene for familial melanoma in several populations.

Nature Communications, 2014

We previously reported a disease segregating causal germline mutation in a melanoma family and re... more We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with increased patient age, increased Breslow thickness and tumour ulceration in 287 primary melanomas. The mutations are more frequent at both intermittently and chronically sun-exposed sites than non-exposed sites and tend to co-occur with BRAF and CDKN2A alterations. The association with parameters generally connected with poor outcome, coupled with high recurrence and mechanistic relevance, raises the possibility of the eventual use of TERT promoter mutations in the disease management.

Journal of the American Academy of Dermatology, 2011

Background: A characteristic cutaneous eruption related to the use of cytostatic chemotherapeutic... more Background: A characteristic cutaneous eruption related to the use of cytostatic chemotherapeutic drugs has been described in the literature. This condition appears to be characterized by an erythematous eruption, primarily affecting the intertriginous areas bilaterally, together with eccrine squamous syringometaplasia as the main histologic feature.

Journal of Clinical Rheumatology, 2013

Dermatologic Surgery, 2012

Clinical and Experimental Dermatology, 2000

The presence of acantholysis in squamous cell carcinomas (SCC) may rarely be so extreme that, his... more The presence of acantholysis in squamous cell carcinomas (SCC) may rarely be so extreme that, histologically, it mimics a vascular tumour. However, careful histological examination and immunohistochemical study usually lead to the correct diagnosis. We describe such a case to highlight the clinico-pathological features of this rare form of cutaneous malignancy and to emphasize the difficulties in establishing the correct diagnosis. We also review similar cases reported in the literature. Pseudovascular SCC shows a higher degree of recurrence and metastasis than other variants of SCC. Acantholytic foci in these tumours may demonstrate changes in keratinocyte differentiation markers, and this may explain the more aggresive biological behaviour in the pseudovascular variant of SCC.