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Cell Population Analyses During Skin Carcinogenesis

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Evolución del tumor. Carga alta y selección positiva generalizada de mutaciones somáticas en la piel humana normal

Iñigo Martincorena¹, Amit Roshan², Moritz Gerstung¹

¹Wellcome Trust Sanger Institute, Hinxton CB10 1SA, Cambridgeshire, UK.

Science (New York, N.Y.)

|May 23, 2015

Resumen

Las mutaciones somáticas se acumulan en las células normales de la piel, impulsadas por la exposición a la luz ultravioleta. Incluso la piel sana contiene numerosas mutaciones que conducen al cáncer, lo que indica las primeras etapas del desarrollo del cáncer.

Área de la Ciencia:

Genética La genética.
Oncología Oncología.
Dermatología Dermatología dermatología.

Sus antecedentes:

Comprender la acumulación de mutaciones somáticas en las células normales es crucial para obtener información sobre el desarrollo del cáncer.
Los mecanismos precisos y la prevalencia de estas mutaciones en tejidos no cancerosos siguen siendo poco conocidos.

Objetivo del estudio:

Para investigar la acumulación y selección de mutaciones somáticas en las células normales de la piel.
Para identificar las mutaciones genéticas del cáncer y su prevalencia en la piel expuesta al sol.

Principales métodos:

Se realizó la secuenciación ultraprofunda de 74 genes del cáncer en pequeñas biopsias de piel normal.
Se analizaron 234 biopsias de la epidermis del párpado de cuatro individuos.

Principales resultados:

La carga de mutación somática promedió de 2 a 6 mutaciones por megabase por célula, con firmas de exposición a la luz ultravioleta.
Múltiples genes de cáncer, incluidos los principales impulsores de los carcinomas de células escamosas, mostraron una fuerte selección positiva en la piel normal.
Se encontraron mutaciones seleccionadas positivamente en el 18-32% de las células normales de la piel, con ~140 mutaciones conductor por centímetro cuadrado.

Conclusiones:

La piel envejecida y expuesta al sol contiene miles de clones en evolución con una proporción significativa de células portadoras de mutaciones causantes de cáncer.
A pesar de las mutaciones, la epidermis mantiene funciones fisiológicas, lo que sugiere una compleja interacción entre la mutación, la selección y la homeostasis tisular.

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