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Los estudios de genética molecular en el cáncer infantil han ido adquiriendo en los últimos años una importancia trascendental. Los avances en estas técnicas han permitido aumentar el conocimiento de distintos genes implicados en el desarrollo tumoral. Estas diferentes alteraciones génicas ocurren en tres grandes grupos de genes: oncogenes, genes supresores y genes reparadores de ADN. Los estudios citogenéticos (cariotipo) se complementan con diferentes técnicas moleculares como la hibridación in situ con fluorescencia (FISH), la transcripción inversa acoplada a la reacción en cadena de la polimerasa (RT-pCR) o el cariotipo espectral (SKY), como más fiables, mejorando su sensibilidad
En este artículo se repasan los genes más representativos y mejor estudiados implicados en la etiología molecular del cáncer pediátrico, tanto de neoplasias hematológicas (leucemias y linfomas) como de tumores sólidos (tumores cerebrales, neuroblastoma, tumor de Wilms, hepatoblastoma, rabdomiosarcoma, sarcoma de Ewing y retinoblastoma), y cómo su estudio, además de permitir alcanzar un diagnóstico más preciso, ha desarrollado nuevos factores pronóstico y tratamientos más efectivos. Estas técnicas también pueden utilizarse en busca de la enfermedad mínima residual, durante y tras finalizar el tratamiento en leucemias, neuroblastomas y sarcomas, con el fin de prevenir su reaparición
Palabras clave:
Citogenética
Genética molecular
RT-pCR
FISH
Alteraciones cromosómicas
Neoplasias hematológicas
Tumores sólidos
Enfermedad mínima residual
In the last few years molecular genetic studies of childhood cancer have acquired great importance. Advances in these techniques have increased knowledge of the various genes involved in tumoral development. Genetic alterations can occur in three large groups of genes: oncogenes, tumor suppressor genes, and DNA repair genes. Cytogenetic analyses (karyotyping) are complemented by various molecular techniques, such as fluorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-pCR) and spectral karyotyping (SKY). These are the most reliable techniques and improve the sensitivity of karyotyping
The present article reviews the most representative and best characterized genes involved in the molecular etiology of childhood cancer, both hematologic malignancies (leukemia and lymphoma) and solid tumors (brain tumors, neuroblastoma, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma, Ewing's sarcoma and retinoblastoma). Molecular techniques have enabled more precise diagnosis as well as identification of new prognostic factors and the development of more effective treatments. These techniques can also be useful in identifying minimal residual disease during and after treatment for leukemias, neuroblastomas and sarcomas, with the aim of predicting recurrence
Key words:
Cytogenetics
Molecular genetics
RT-pCR
FISH
Chromosomal abnormalities
Hematologic malignancies
Solid tumors
Minimal residual disease
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