Untitled - Red Temática de investigación cooperativa en cáncer

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ESTUDIO DE CAMBIOS FOCALES EN EL NÚMERO DE COPIAS DE DNA EN
NEUROBLASTOMA MEDIANTE ARRAYS DE SNP
BERBEGALL BELTRÁN AP 1 , VILLAMÓN RIBATE E 1 , TADEO CERVERA I 2 , MARTA PIQUERAS 1 , NAVA-
RRO FOS S 1 , NOGUERA SALVÁ R 1
1
FACULTAD DE MEDICINA –UNIVERSIDAD DE VALENCIA, VALENCIA (RD06/0020/0102)
2
FUNDACIÓN DE INVESTIGACIÓN DEL HOSPITAL CLÍNICO DE VALENCIA, VALENCIA (RD06/0020/0102)
Introducción: El neuroblastoma (NB) es el tumor sólido extracraneal más frecuente en
la infancia. Genéticamente es frecuente observar cambios numéricos cromosómicos completos
(NCA) y grandes alteraciones cromosómicas segmentarias (SCA). La importancia
pronóstica de estos cambios no ha facilitado el estudio de las SCA focales (≤ 2 Mb).
Material y Métodos: Hemos analizado 145 NBs mediante arrays de SNP (Affymetrix 250K
y/o Illumina 300K). Junto con la descripción de los perfiles pangenómicos típicos (NCA y
SCA) realizamos un estudio preliminar sobre la presencia y tipo de ganancias, amplificaciones
y/o pérdidas cromosómicas focales.
Resultados: En todos los tumores analizados observamos algún tipo de alteración cromosómica.
Un perfil de NCA estaba presente en el 5.6% de los casos. El 72.4% de los casos
presentaron un perfil de grandes SCA, estando combinadas en un 90% de ellos con SCA
focales. En el 4.8% de los casos únicamente detectamos SCA focales. Se observaron tanto
ganancias (48%), amplificaciones (13%) como deleciones (39%) focales. Se encontraron
una media de tres (1-9) SCA focales por caso. Los perfiles pangenómicos de un 17.2% de
los casos presentaron cromosomas no evaluables y por tanto considerados incompletos.
Conclusiones: La alta frecuencia de SCA focales detectada en nuestro estudio y no consideradas
hasta el momento actual implica la necesidad de conocer su impacto pronóstico y
su relación con otros factores de valor pronóstico reconocido.
Financiación: ISCIII (RD06/0020/0102 y PI00015) y FAEC (396/2009).
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MicroRNAs IN URINE AS BIOMARKERS FOR PROSTATE CANCER
MONTES M 1 , OLIVAN M 1 , SEQUEIROS T 1 , GARCIA M 1 , RIGAU M 1 , MOROTE J 1 , REVENTÓS J 1 ,
AND DOLL A 1
1
VALL D’HEBRON RESEARCH INSTITUTE (VHIR) AND UNIVERSITY HOSPITAL, BIOMEDICAL RESEARCH
UNIT, BARCELONA, (RD06/0020/0058)
Background and aims: Prostate cancer (PCa) is the most common neoplasia among
males from developed countries and the second leading cause of death from cancer. During
the last years, serum prostate specific antigen (PSA) has been used as biomarker for PCa
diagnosis. Although PSA test has increased PCa detection, it has a low specificity and leads
to over diagnosis and over treatment, therefore, it is necessary to improve the current diagnostic
methods for PCa. In the past decade, urine has received more and more attention for
its simplicity, as well as its potential use in identifying new biomarkers as non- or minimum
invasive detection method. Deregulation of microRNAs (miRNAs) in serum/plasma or tissue
has been associated with many diseases including PCa, suggesting the possible use of
miRNAs as diagnostic biomarkers also in other body fluids. For that reason the aim of this
study was to evaluate if miRNAs known to be deregulated in blood or tissue could also be
detected in urine and used as biomarkers for the detection of PCa.
Methods: Post-prostate massage urine samples were prospectively collected from 40 consecutive
patients, who will undergo a prostatic biopsy as part of their routine medical care,
due to the suspicion of PCa (PSA≥4.0 ng/mL and/or abnormal digital rectal examination).
Total RNA was isolated of 20 PCa patients and 20 benign controls and differential expression
levels of 21 selected miRNAs were analyzed by RT-qPCR.
Results: Data showed that a total of 7 miRNAs were differentially expressed, 5 of them
were down- and 2 up-regulated significantly in the urine of PCa patients compared with the
controls (p