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Vol. 18. Issue 4.
Pages 285-293 (January 2007)
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Vol. 18. Issue 4.
Pages 285-293 (January 2007)
Análisis de la presencia de mutaciones por pérdida de heterocigocidad de 1p/19q en tumores cerebrales de estirpe glial
Allelic loss at 1p/19q analysis in brain tumors of glial lineage
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J.L. Gil-Salú
, J. Almarcha
Servicios de Neurocirugía, Hospital Universitario Puerta del Mar. Cádiz. España
A. Nieto*, J.F. Rodríguez-Gutiérrez*
* Servicios de Inmunología, Hospital Universitario Puerta del Mar. Cádiz. España
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Resumen
Objetivos

Analizar en tumores cerebrales, fundamentalmente de estirpe neuro-epitelial, la existencia de mutaciones en los cromosomas 1p y 19q por la técnica de análisis de la pérdida de heterocigocidad (LOH). Un primer objetivo implícito fue poner a punto la técnica del análisis.

Método

Hemos investigado la existencia de mutaciones en 3 alelos seleccionados del cromosoma 1p y en 2 alelos del 19q de distintos tumores cerebrales de estirpe glial intervenidos de manera consecutiva en nuestro Centro desde Octubre de 2004 a Marzo de 2006. La metodología empleada ha sido la detección en ADN tumoral de tejido en fresco y en sangre del paciente del marcaje por PCR de amplificados y electroforesis analizando la pérdida de heterocigocidad de microsatélites, repeticiones de dinucleótidos, situados en D1S508, D1S2734, D1S199, D19S412 y D19S219.

Resultados

Hemos incluido en esta primera fase de estudio un total de 45 muestras de pacientes intervenidos de tumores cerebrales supratentoriales de estirpe neuroepitelial y que incluyen: 29 glioblastomas, 1 gliosarcoma, 7 astrocitomas grado II, 1 oligoastrocitoma, 3 oligodendrogliomas, 1 oligodendroglioma anaplásico, 1 xantoastrocitoma, 1 tumor neuroepitelial disembrioplásico y 1 astrocitoma pilocítico. La presencia de mutación la hemos considerado cuando el índice alélico T1/T2N1/N2 era inferior a 0.8.

Por estirpe histológica destaca la presencia de mutación en un 80% de tumores oligodendrogliales, 14% de glioblastomas y 14% de astrocitomas fibrilares grado II.

Conclusiones

La técnica de análisis de LOH en 1p/19q es factible de realizar en centros que dispongan de técnicas de estudios genético-moleculares, con un alto índice de fiabilidad. De su resultado se desprende qué pacientes se pueden beneficiar del tratamiento con alquilantes añadiendo, a la terapia quirúrgica y/o radioterápica en uso hasta la fecha, una posibilidad de tratamiento con alto porcentaje de respuestas.

Palabras clave:
Tumores cerebrales
Gliomas
Mutación 1p/19q
Pérdida de heterocigocidad
Alquilantes
Abreviaturas:
AD
PCV
EORTC
GOS
PCR
RTOG
U.K
Summary
Background

To analyze in cerebral tumors of neuroepithelial tissue 1p/19q codeletions by study of loss of heterozygosity (LOH). A first implied objective was to get ready this molecular thecnique.

Methods

We aimed to determine several deletions mapping 1p and 19q chromosomes, three allelic loss of 1p and two allelic loss of 19q, in patients with cerebral tumors which were operated in our Deparment from October 2004 until March 2006. We have detected in blood and tumoral DNA loss of heterozygosity assay for molecular detection using PCR and capillary array electrophoresis of five markers (D1S508, D1S2734, D1S199, D19S412 y D19S219).

Results

Were included in the first part of this study 45 sample of neuroepithelial tissue supratentorial tumors: 29 glioblastoma, 1 gliosarcoma, 7 diffuse astrocytoma grade II, 1 oligoastrocytoma, 3 oligodendroglioma, 1 anaplastic oligodendroglioma, 1 xanthoastrocytoma, 1 dysembryoplastic neuroepithelial tumour and 1 pilocytic astrocytoma. We considered deleted regions identified when allelic ratio T1/T2N1/N2 was lower than 0.8.

Taken together, histological tissue shown deletion in 80% of oligodendroglial tumors, 14% glioblastoma and 14% of diffuse astrocytoma grade II.

Conclusions

Evaluation of 1p/19q allelic status by LOH analysis may provide useful information for guiding clinical and therapeutical decisions with high succes ratio. These results shown why patients with 1p/19q codeletion survive longer, because adjuvant alkylants adds further improvements to standard, surgery and radiotherapy, treatments.

Key words:
Cerebral tumors
Gliomas
1p/19q mutation
Loss of heterozygosity
Alkylating drugs

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