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El oncógeno de fusión PAX8-PPARgamma1 en el carcinoma de tiroides humano [corregido]
T G Kroll1, P Sarraf, L Pecciarini
1Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. tkroll@rics.bwh.harvard.edu
Science (New York, N.Y.)
|August 26, 2000
Resumen
Se identificó una nueva fusión génica, PAX8-PPARgamma1, en los carcinomas foliculares de la tiroides, que impulsa el desarrollo del cáncer. Este descubrimiento ofrece nuevas estrategias diagnósticas y terapéuticas potenciales para el cáncer de tiroides.
Área de la Ciencia:
- Oncología Oncología.
- Biología Molecular Biología Molecular
- Genética La genética.
Sus antecedentes:
- Las translocaciones cromosómicas que crean oncoproteínas de fusión son comunes en leucemias / linfomas y sarcomas.
- Estas translocaciones no se han observado de manera consistente en los carcinomas, los cánceres humanos más prevalentes.
- Las alteraciones genéticas específicas que impulsan el desarrollo del carcinoma folicular de tiroides requieren una mayor aclaración.
Objetivo del estudio:
- Para investigar los mecanismos moleculares subyacentes a un subconjunto de los carcinomas foliculares de la tiroides humana.
- Identificar y caracterizar nuevas fusiones de genes asociadas con el cáncer de tiroides.
- Explorar el papel funcional de las proteínas de fusión identificadas en la tumorigénesis.
Principales métodos:
- Análisis cariotípico para identificar las translocaciones cromosómicas.
- Reacción en cadena de transcripción inversa y polimerasa (RT-PCR) para detectar transcripciones de fusión.
- Western blotting para confirmar la expresión proteica del producto de fusión.
- Ensayos funcionales para evaluar el impacto de la proteína de fusión en la transactivación génica.
Principales resultados:
- Se identificó una translocación específica, t(2;3)(q13;p25), en los carcinomas foliculares de la tiroides.
- Esta translocación da como resultado la formación del gen de fusión PAX8-PPARgamma1.
- El ARNm y la proteína PAX8-PPARgamma1 se detectaron en 5 de los 8 carcinomas foliculares de tiroides estudiados.
- La proteína de fusión estaba ausente en los tumores benignos de tiroides y en los tejidos tiroideos normales.
- PAX8-PPARgamma1 demostró una inhibición dominante-negativa de la actividad del receptor gamma1 activado por el proliferador de peroxisomas (PPARgamma1).
Conclusiones:
- El oncogén de fusión PAX8-PPARgamma1 juega un papel en el desarrollo del carcinoma folicular de tiroides.
- El receptor gamma activado por el proliferador peroxisomático (PPARgamma) puede tener una función oncogénica en este contexto.
- La proteína de fusión PAX8-PPARgamma1 representa un biomarcador potencial para el diagnóstico de carcinoma de tiroides.
- Dirigirse a la fusión PAX8-PPARgamma1 podría ofrecer una nueva estrategia terapéutica para el tratamiento del cáncer de tiroides.
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