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

lunes, 4 de marzo de 2019

Patrones de distribución de los nevos melanocíticos congénitos gigantes (GCMN): La regla 6B.

Martins da Silva VP  Marghoob A Pigem R Carrera C Aguilera P Puig-Butillé JA Puig S Malvehy J .

Resumen



FONDO:

Se han usado términos relacionados con prendas de ropa para describir el patrón de distribución de los nevos melanocíticos congénitos gigantes (GCGN).

OBJETIVO:

Buscamos describir los patrones de distribución de GCMN y proponer un esquema de clasificación.

MÉTODOS:

Se analizaron los registros fotográficos de pacientes con GCMN del Hospital Clínico de Barcelona y se creó una clasificación basada en los patrones de distribución observados de GCMN. La clasificación fue aplicada de forma independiente por 8 observadores a los casos encontrados en la literatura. El acuerdo interobservador fue evaluado.

RESULTADOS:

Entre los 22 pacientes observamos 6 patrones repetibles de distribución de GCMN, que denominamos "6B": bolero (que involucra el aspecto superior de la espalda, incluido el cuello), la espalda (en la espalda, sin la participación de las nalgas ni los hombros) , tronco de baño (que involucra la región genital y los glúteos), pecho / vientre (aislado en el tórax o abdomen sin participación del bolero o distribuciones del tronco de baño), extremidad del cuerpo (aislado a la extremidad) y cuerpo (compromiso tanto del bolero como del tronco de baño) . Nuestra búsqueda en la literatura encontró 113 casos de GCMN, que pudimos clasificar en 1 de los patrones 6B con un kappa general de 0,89.

LIMITACIONES:

Algunos patrones ocurren con poca frecuencia con una escasez de imágenes disponibles para el análisis.

CONCLUSIONES:

La distribución anatómica de GCMN se produce en 6 patrones reconocibles y repetibles.

Fuente: PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28325390

Patterns of distribution of giant congenital melanocytic nevi (GCMN): The 6B rule.


Abstract

BACKGROUND:

Garment-related terms have been used to describe the pattern of distribution of giant congenital melanocytic nevi (GCMN).

OBJECTIVE:

We sought to describe patterns of distribution of GCMN and propose a classification scheme.

METHODS:

Photographic records of patients with GCMN from the Hospital Clinic of Barcelona were analyzed and a classification based on observed GCMN distribution patterns was created. The classification was independently applied by 8 observers to cases found in the literature. The interobserver agreement was assessed.

RESULTS:

Among 22 patients we observed 6 repeatable patterns of distribution of GCMN, which we termed the "6B": bolero (involving the upper aspect of the back, including the neck), back (on the back, without involvement of the buttocks or shoulders), bathing trunk (involving the genital region and buttocks), breast/belly (isolated to the chest or abdomen without involvement of bolero or bathing trunk distributions), body extremity (isolated to extremity), and body (both bolero and bathing trunk involvement). Our literature search found 113 cases of GCMN, which we were able to classify into 1 of the 6B patterns with an overall kappa of 0.89.

LIMITATIONS:

Some patterns occur infrequently with a dearth of images available for analysis.

CONCLUSIONS:

The anatomic distribution of GCMN occurs in 6 recognizable and repeatable patterns.

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

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