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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 #31 EGFR Mutation: What Is It, and Which Patients Have It?
Author
Luis Raez, MD FACP FCCP
 

Mutación del receptor del factor de crecimiento epidérmico (EGFR): ¿Qué es? Y ¿Qué pacientes lo tienen?

Mutation of the epidermal growth factor receptor (EGFR): What is it? And, what patients have it?

 

 Dr. Luis Raez, MD FACP FCCP

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

 

Spanish TRANSCRIPT

Este es un tópico nuevo, pero ya después de cuatro-cinco años de hablar de él, mucha gente ya está familiarizada.

Básicamente las mutaciones EGFR son mutaciones en el receptor EGFR que se localizan específicamente en áreas del cromosoma que son los exones 19 y 21. En esas dos áreas del cromosoma que son esos dos exones, las mutaciones que representa el receptor hace que se sensibilice el receptor para que responda a las terapia blanco. Hemos tenido mucha suerte que ya se hayan aprobado fármacos como gefitinib, erlotinib, afatinib que son fármacos que atacan a los tumores que expresan estas mutaciones.

Esta sensibilidad lamentablemente no es permanente, con el tiempo de repente, en unos 10 o 12 meses, se empieza a ver resistencia. Muchas veces estos pacientes están con estas terapias blanco por 10 o 12 meses y después tenemos que cambiar de terapia cuando hay nuevas nutaciones en otros exones que crean resistencia.

Es importante saber que hay que buscar estas mutaciones en los pacientes con cáncer de pulmón. Son mutaciones tumorales, no son mutaciones de línea germinal como en cancer de mama. En el cáncer de mama, se buscan oncogenes como el gen BRCA. Pero todo lo que hablamos del cancer de pulmón, todas las mutaciones se buscan en el tumor.

Hoy en día hemos tenido la suerte de poder identificar DNA tumoral en la sangre. Entonces muchas veces estas mutaciones EGFR se pueden buscar en la sangre o en la orina de los pacientes. Así que podríamos de repente evitar tener que repetir o hacer biopsias, si es que podemos detectarlo en la sangre o en la orina para ayudar a diagnosticar esta mutación.


 

English TRANSCRIPT

This is a new topic, but after four or five years of talking about it, people are getting to know it better.

Basically, mutations in the EGFR are in its receptor and they are located in areas of the chromosome that are the exons 19 and 21. In those two exons, mutations that are represented in the receptor, sensitize it to be able to respond to targeted therapies. We’ve been very lucky in the approval of drugs like gefitinib, erlotinib and afatinib, that are drugs that target tumor with these mutations.

Unfortunately, this sensitivity is not permanent. With time, around 10 to 12 months, resistance starts. Many times these patients are in targeted therapies for 10-12 months, and then we have to change therapy because of new mutations in other exons that are creating resistance.

It’s important to know that we have to search for new mutations in lung cancer patients. They are tumoral mutations and not germline mutations like in breast cancer. In breast cancer, we look for oncogenes mutations like in BRCA. But in lung cancer, all the mutations we look for are in the tumor.

Nowadays, we’ve been very lucky to be able to identify tumoral DNA in blood. So, many times, these EGFR mutations can be identified in the blood or urine of the patients. With this, we would be able to avoid biopsies or have to repeat them.

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