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La mejor evidencia junto a la mejor organización: el reto de la coordinación profesional en atención oncológica. Ignacio A. Jornada Técnica: Atención Multidisciplinar en Cáncer como modelo de calidad asistencial (Madrid: Ministerio de Sanidad y Política Social, 2010)
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Cáncer de mama: clasificación molecular (Perou et al, Nature 2000)
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Información patológica dispersa
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Clínica
Radiología
Cirugía Historia Familiar
Quimioterapia
Radioterapia
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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!