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Vías oncogénicas CCR

Vía supresora (85%) Vía mutadora (15%) Alteración vía reparadora (IMS)

Esporádico 80%

Sd Lynch 20%

Metilación MLH1 Mutación germinaL MLH1 MSH2 MSH6 PMS2

Mejor pronóstico Peor respuesta a 5-FU Identificar Sd Lynch

Estudio patológico convencional CCR

-  Determinación estadio tumoral

-  Infiltración (T)

-  Afectación ganglionar (N)

-  Marcadores pronósticos

-  Invasión linfovascular

- Afectación márgenes quirúrgicos

Carcinoma colorrectal

Papel del patólogo para identificar tumores desarrollados por la vía mutadora

-  Características clínico patológicas

- Estudio inmunohistoquímico de las proteínas reparadoras (MLH1, MSH2, MSH6, PMS2): concordancia con IMS 99%

- Si pérdida de MLH1:

-  Estudio de mutación BRAF (para detectar casos esporádicos): stripassay (IZASA). No requiere secuenciación

-  Estudio de metilación de MLH1 (para detectar casos esporádicos): kit comercial (MLPA)

-  Si pérdida MSH2/MSH6 o aislada de MSH6 o PMS2: remitir a la UCG: probable Lynch

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2008 39 años

CD30 ALK

1988 19 años

CD30 ALK

Linfoma anaplásico ALK

¿Por qué es necesario almacenar muestras con fines diagnósticos?

Demanda creciente de muestras biológicas

ADN ARN

Ensayos clínicos Unidades de Consejo genético

Investigación

BIOBANCOS. NODO DE TUMORES SÓLIDOS

-80º C

ADN ADN ARN Proteínas

ADN linfocitos

Linfocitos Inmortalizados

ADN ARN Proteínas Cultivos

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¡Muchas gracias!

aranda_ign@gva.es