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Chief of Hematology/Oncology and Medical Director at Memorial Cancer Institute, and Clinical Associate Professor of Medicine at Florida International University

Chief of Hematology/Oncology
Medical Director of Memorial Cancer Institute

Lung Cancer Video Library - Spanish Language: Video #32 Different Types of EGFR Mutations and their Potential Clinical Implications
Tue, 02/14/2017 - 11:57
Luis Raez, MD FACP FCCP, Faculty, Board Member

Diferentes tipos de mutaciones del receptor del factor de crecimiento epidérmico (EGFR) y sus posibles implicaciones clínicas

 Different types of mutations in the epidermal growth factor receptor (EGFR) and their possible clinical implications


 Dr. Luis Raez, MD FACP FCCP

Chief of Hematology/Oncology and Medical Director, Memorial Cancer Institute,
Clinical Associate Professor of Medicine, Florida International University



Las mutaciones para el receptor EGFR son muchas y cada vez se describen más. La última vez que cheque eran más de 40. Hay muchas mutaciones en el EGFR, aunque existen, aún no estamos seguros si están asociados a respuesta contra terapia blanca. Yo tengo pacientes que tienen mutaciones desconocidas, entonces no sabemos si estas mutaciones en el EGFR nos van a servir como blanco en los inhibidores de la tirosina cinasa. Muchas veces no nos podemos arriesgar porque no hay evidencia, y ponemos a los pacientes en quimioterapia.

Cada día se prueba que muchas de estas mutaciones si existen y las mutaciones en el fondo son una familia grande de mutaciones. Como ustedes saben, la mayoría están en los exones 19 y 21 y muchos de los análisis comerciales solamente buscan estas mutaciones en el 19 y en el 21. Eso no está bien, porque privan al 10% de pacientes que tienen otras mutaciones de la posibilidad que le detecten esa mutación.

Es muy importante detectar estas mutaciones porque el paciente va a evitar ir a quimioterapia y en vez de esto va a poder recibir una terapia blanco que le va a poder prolongar la vida hasta por un año antes de la necesidad de ponerlo en quimioterapia. Es algo extra pero lamentablemente no son la mayoría de los pacientes. En los pacientes blancos es menos del 20%, en los hispanos es como el 30% dependiendo del país y en los asiáticos es más del 40%. También depende si fuman o no, los no fumadores tienen una incidencia más grande de mutaciones. Los jóvenes también tienen una incidencia más grande y en general, las mujeres tienen una incidencia más grande que los hombres.



Mutations in the EGFR receptor are many and everyday more are being described. Last time I checked, there were over 40 mutations. There are certain mutations in the EGFR that even though they exist, we are not sure if they are related to a targeted therapy response. I have patients that have unknown mutations, so we don’t know if these EGFR mutations will be useful for targeted therapies in the tyrosine kinase inhibitors. Many times we cannot take a risk, because of the lack of evidence, so we put the patients in chemotherapy.

Every day new mutations are confirmed and overall this is a big family of mutations. As you know, most of them are in exons 19 and 21, so most of commercial tests only search for mutations in exons 19 and 21. This is not beneficial, because 10% of patients that have other mutations do not have the same possibility of being diagnosed than the ones that have that mutation.

It is very important to identify these mutations because the patient can avoid chemotherapy and instead receive a targeted therapy that can prolong their life for over year before they need to go into chemotherapy. It’s something extra but unfortunately is not for most patients. In white patients is less than 20%, in Hispanic is like 30% depending on their country, and in Asians is over 40%. Smoking also affects it, non-smokers have a higher incidence of mutations. Young patients also have a higher incidence, and in general, women have a greater incidence than men.


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