Mostrando entradas con la etiqueta paulaaguilera. Mostrar todas las entradas
Mostrando entradas con la etiqueta paulaaguilera. Mostrar todas las entradas

jueves, 20 de febrero de 2020

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population

https://doi.org/10.1111/bjd.12418

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population

LINK:  https://doi.org/10.1111/bjd.12418


Funding sources The research at the Melanoma Unit in Barcelona was partially funded by Grants 03/0019, 05/0302, 06/0265 and 09/01393 from Fondo de Investigaciones Sanitarias, Spain; by the CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain; by the AGAUR 2009 SGR 1337 of the Catalan Government, Spain; by the European Commission under the 6th Framework Programme, contract no. LSHCCT2006018702 (GenoMEL) and by the National Cancer Institute of the U.S. National Institutes of Health (CA83115). The work was carried out at the Esther Koplowitz Centre, Barcelona, Spain. The samples from the Instituto Valenciano de Oncología were collected from the Biobanco del Instituto Valenciano de Oncología.

Background

Cutaneous melanoma tumour is classified into clinicohistopathological subtypes that may be associated with different genetic and host factors. Variation in the MC1R gene is one of the main factors of risk variation in sporadic melanoma. The relationship between MC1R variants and the risk of developing a specific subtype of melanoma has not been previously explored.

Objectives


To analyse whether certain MC1R variants are associated with particular melanoma subtypes with specific clinicohistopathological features.

Methods


An association study was performed between MC1R gene variants and clinicopathological subtypes of primary melanoma derived from 1679 patients.

Results


We detected 53 MC1R variants (11 synonymous and 42 nonsynonymous). Recurrent nonsynonymous variants were p.V60L (30·0%), p.V92M (11·7%), p.D294H (9·4%), p.R151C (8·8%), p.R160W (6·2%), p.R163Q (4·2%) p.R142H (3·3%), p.I155T (3·8%), p.V122M (1·5%) and p.D84E (1·0%). Melanoma subtypes showed differences in the total number of MC1R variants (= 0·028) and the number of red hair colour variants (= 0·035). Furthermore, an association between p.R163Q and lentigo maligna melanoma was detected under a dominant model of heritance (odds ratio 2·16, 95% confidence interval 1·07–4·37; = 0·044). No association was found between p.R163Q and Fitzpatrick skin phototype, eye colour or skin colour, indicating that the association was independent of the role of MC1R in pigmentation. No association was observed between MC1R polymorphisms and other melanoma subtypes.

Conclusions


Our findings suggest that certain #MC1R variants could increase melanoma risk due to their impact on pathways other than pigmentation, and may therefore be linked to specific melanoma subtypes
 
#malvehy #susanapuig #cristinacarrera  #paulaaguilera #jmalvehy #melanoma #skincancer  #mc1r #genomel
J.A. PuigButillé C. Carrera R. Kumar Z. GarciaCasado P. Aguilera J. Malvehy E. Nagore S. Pui

 

jueves, 19 de julio de 2018

Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q

 
The main genetic factors for familial melanoma remain unknown in >75% of families. CDKN2A is mutated in around 20% of melanoma-prone families. Other high-risk melanoma susceptibility genes explain <3% of families studied to date. We performed the first genome-wide linkage analysis in CDKN2A-negative Spanish melanoma-prone families to identify novel melanoma susceptibility loci. We included 68 individuals from 2, 3, and 6 families with 2, 3, and at least 4 melanoma cases. We detected a locus with significant linkage evidence at 11q14.1-q14.3, with a maximum het-TLOD of 3.449 (rs12285365:A>G), using evidence from multiple pedigrees. The genes contained by the subregion with the strongest linkage evidence were: DLG2, PRSS23, FZD4, and TMEM135. We also detected several regions with suggestive linkage evidence (TLOD >1.9) (1q, 6p, 7p, 11q, 12p, 13q) including the region previously detected in melanoma-prone families from Sweden at 3q29. The family-specific analysis revealed three loci with suggestive linkage evidence for family #1: 1q31.1-q32.1 (max. TLOD 2.447), 6p24.3-p22.3 (max. TLOD 2.409), and 11q13.3-q21 (max. TLOD 2.654). Future next-generation sequencing studies of these regions may allow the identification of new melanoma susceptibility genetic factors.

https://www.ncbi.nlm.nih.gov/pubmed/29706638

#acralmelanoma  #melanoma  #susanapuig #josepmalvehy #cristinacarrera #skincancer #paulaaguilera  #thegooddoctor #topdoctors #familialmelanoma #cdkn2a #skincancer #skinmelanoma  

miércoles, 18 de abril de 2018

Dermatosis

Dermatosis
Según un informe de la mutua laboral MAZ, diagnostican casi 100mil casos de #dermatosis
Las dermatosis son las enfermedades que afectan a la piel y sus anexos que incluyen el cabello y las uñas. Cuando esta afección es de tipo inflamatorio o infeccioso se emplea entonces el término dermatitis.
La dermatitis es un término general que describe una inflamación de la piel. La dermatitis puede tener distintas causas y manifestarse de muchas formas. Generalmente, produce una erupción con comezón sobre la piel enrojecida e inflamada.
La piel afectada por la dermatitis puede formar ampollas, supurar, formar una costra o descamarse. Ejemplos de dermatitis incluyen la dermatitis atópica (eccema), la caspa y las erupciones cutáneas provocadas por el contacto con distintas sustancias, como la hiedra venenosa, los jabones y las joyas con níquel.
La dermatitis es una afección frecuente que no es contagiosa, pero puede hacerte sentir incómodo y cohibido. Una combinación de pasos de autocuidado y medicamentos puede ayudarte a tratar la dermatitis.
Acuda al dermatólogo/a para tratar la dermatitis

#dermatologa #centrodermatologico #dermatologia #dermatologobarcelona #dermatologabarcelona #centrodermatologico #dermatitis #melanoma #cancerdepiel

jueves, 8 de febrero de 2018

Dermoscopic Clues for Diagnosing Melanomas That Resemble Seborrheic Keratosis.


PubMed

Abstract

Importance:

Melanomas that clinically mimic seborrheic keratosis (SK) can delay diagnosis and adequate treatment. However, little is known about the value of dermoscopy in recognizing these difficult-to-diagnose melanomas.

Objective:

To describe the dermoscopic features of SK-like melanomas to understand their clinical morphology.

Design, Setting, and Participants:

This observational retrospective study used 134 clinical and dermoscopic images of histopathologically proven melanomas in 134 patients treated in 9 skin cancer centers in Spain, France, Italy, and Austria. Without knowledge that the definite diagnosis for all the lesions was melanoma, 2 dermoscopy-trained observers evaluated the clinical descriptions and 48 dermoscopic features (including all melanocytic and nonmelanocytic criteria) of all 134 images and classified each dermoscopically as SK or not SK. The total dermoscopy score and the 7-point checklist score were assessed. Images of the lesions and patient data were collected from July 15, 2013, through July 31, 2014.

Main Outcomes and Measures:

Frequencies of specific morphologic patterns of (clinically and dermoscopically) SK-like melanomas, patient demographics, and interobserver agreement of criteria were evaluated.

Results:

Of the 134 cases collected from 72 men and 61 women, all of whom were white and who had a mean (SD) age of 55.6 (17.5) years, 110 (82.1%) revealed dermoscopic features suggestive of melanoma, including pigment network (74 [55.2%]), blue-white veil (72 [53.7%]), globules and dots (68 [50.7%]), pseudopods or streaks (47 [35.1%]), and blue-black sign (43 [32.3%]). The remaining 24 cases (17.9%) were considered likely SKs, even by dermoscopy. Overall, lesions showed a scaly and hyperkeratotic surface (45 [33.6%]), yellowish keratin (42 [31.3%]), comedo-like openings (41 [30.5%]), and milia-like cysts (30 [22.4%]). The entire sample achieved a mean (SD) total dermoscopy score of 4.7 (1.6) and a 7-point checklist score of 4.4 (2.3), while dermoscopically SK-like melanomas achieved a total dermoscopy score of only 4.2 (1.3) and a 7-point checklist score of 2.0 (1.9), both in the range of benignity. The most helpful criteria in correctly diagnosing SK-like melanomas were the presence of blue-white veil, pseudopods or streaks, and pigment network. Multivariate analysis found only the blue-black sign to be significantly associated with a correct diagnosis, while hyperkeratosis and fissures and ridges were independent risk markers of dermoscopically SK-like melanomas.

Conclusions and Relevance:

Seborrheic keratosis-like melanomas can be dermoscopically challenging, but the presence of the blue-black sign, pigment network, pseudopods or streaks, and/or blue-white veil, despite the presence of other SK features, allows the correct diagnosis of most of the difficult melanoma cases.

https://www.ncbi.nlm.nih.gov/pubmed/28355453




#josepmalvehy  #aliciabarreiro  #aliciabarreiro #susanapuig #paulaaguilera #cristinacarrera, #cutaneousmelanoma #diagnosisofmelanoma #dermoscopic #seborrheickeratosis #keratosis, #dermoscopy #skincancer

miércoles, 17 de enero de 2018

Terapia Fotodinámica


¿Qué es la Terapia Fotodinámica (TFD)?

La Terapia Fotodinámica (PDT) es un tratamiento que se utiliza fundamentalmente para el tratamiento de lesiones cutáneas inducidas por el daño solar, como algunos tumores cutáneos superficiales (p.ej. carcinoma basocelular superficial) y lesiones cutáneas en piel dañada por el sol (enfermedad de Bowen, queratosis actínicas). También puede utilizarse para el tratamiento del acné, verrugas vulgares y otras enfermedades inflamatorias de la piel.
¿Cómo será el procedimiento?

Una semana antes del tratamiento se deberá aplicar cada noche una crema de vaselina salicílica sobre la/s lesiones a tratar. En el día del tratamiento se procederá en primer lugar a retirar las costras mediante curetaje si es necesario. En algunos casos que el facultativo lo crea necesario, podrá aplicarse Láser CO2 en modo fraccional sobre el área a tratar para mejorar la absorción posterior de la crema.
Realizados estos procedimientos se aplicará una crema de Metilaminolevulinato (Metvix®) o ácido 5-aminolevulínico en gel (Ameluz®) sobre el área a tratar, se cubrirá con un apósito opaco y se dejará incubar durante 2h30min – 3h. Durante este tiempo usted podrá salir del centro, ir a pasear, irse a su casa….

Cuando vuelva al centro se retirará la crema y se aplicará la lámpara de TFD. Se trata de un LED de luz roja que se aplica a 2cm de distancia del campo a tratar durante un período de entre 9 y 30 minutos según la tolerancia y extensión del área a tratar.

-          Para el tratamiento de Queratosis Actínicas suele ser suficiente 1 sesión de TFD, aunque el facultativo deberá valorar en cada caso la necesidad de tratamientos adicionales.

-          Para el tratamiento de la Enfermedad de Bowen y el Carcinoma Basocelular Superficial serán necesarias 2 sesiones separadas 1 semana.
Efectos secundarios del tratamiento

Durante el tratamiento puede experimentar dolor o discomfort en la zona irradiada. Un discreto dolor o sensación de quemazón y picor pueden persistir 48h después del tratamiento. El área tratada puede inflamarse discretamente las 48h posteriores al tratamiento.
Si tras dos sesiones de tratamiento no se ha conseguido el aclaramiento completo de las lesiones, se considerará un re-tratamiento con dos sesiones adicionales, esta valoración se realizará a los 3 meses del tratamiento inicial.

Incluso si las lesiones han aclarado con el tratamiento, usted deberá continuar sus controles con su dermatólogo cada 6 meses o con mayor frecuencia si el facultativo lo considera.
Tratamientos Alternativos
Crioterapia
Cirugía
Aldara®, Solaraze®, Actikeral®, Zyclara®, Picato®, Actixicam®

#terapiafotodinamica #aldara #solaraze #zyclara #picato #actikeral #carcinomabasocelular #fotodinámica #paulaaguilera #diagnosisdermatologica #dermatologabarcelona #dermatologobarcelona #queratosis #queratosisactinica #bowen #tfd