Key takeaways

  • EGFR-positive lung cancer primarily occurs in adenocarcinoma, a subtype of non-small cell lung cancer, caused by mutations in the epidermal growth factor receptor gene, which triggers abnormal, rapid cell growth.
  • Targeted therapies called EGFR inhibitors work by blocking abnormal cell growth signals, but cancer cells may develop resistance over time, typically after several months to years of treatment.
  • Survival outcomes vary based on factors like mutation type and treatment response, averaging around 26 to 44 months for people with advanced disease who receive EGFR inhibitor therapy.

Epidemial growth factor receptor (EGFR) is a protein found on the surface of many cells in the body, including in the lungs.

This article discusses what EGFR mutation lung cancer is, as well as its symptoms, prevalence, and treatments.

The function of EGFR is to help cells grow and divide. If an EGFR mutation is present, the EGFR protein will not work correctly.

An EGFR mutation occurs when there is an error in the DNA that makes up the protein. These errors are also a type of biomarker. A biomarker is a biological molecule that can be an indicator of a certain condition or disease.

A person with EGFR-positive lung cancer has EGFR protein that is constantly signaling for cells to grow and divide. Rapid cell creation leads to abnormal cell growth, which is what cancer is.

EGFR mutations in lung cancer are usually specific changes in the DNA that lead to abnormal cell growth. The most common mutations are exon 19 deletions or the L858R point mutation in exon 21. Less common mutations, such as exon 20 insertions, often require different treatments approaches compared to other EGFR mutations.

EGFR DNA mutations can involve:

  • insertions, where additional code is inserted into a DNA sequence
  • deletions, where the DNA is missing certain sequences
  • point mutations, where a single nucleotide is altered

What type of lung cancer can these mutations cause?

The two main types of lung cancer are small-cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC). EGFR-positive lung cancer almost always occurs in adenocarcinoma, a subtype of NSCLC

More rarely, EGFR mutations may be found in squamous cell carcinoma, which is another type of NSCLC.

EGFR mutations in SCLC are also rare, and targeted EGFR therapies are usually not used for this type.

EGFR mutations are one of the most common genetic alterations in NSCLC. They are found in around 10–15% of lung cancers in the United States, though may be even more common in Asian or East Asian populations.

These mutations are also seen more frequently in non-smokers, younger adults, and women.

EGFR mutation lung cancer does not have specific symptoms. It shares the same symptoms of the overall type of lung cancer to which is it connected.

Most lung cancers do not have symptoms until they have spread. Occasionally, people in the early stages of lung cancer do have symptoms, which can include:

  • persistent cough that may worsen
  • coughing up blood or rust-colored sputum (spit or phlegm)
  • chest pain that may worsens with deep breathing, coughing, or laughing
  • hoarseness of voice
  • loss of appetite
  • unexplained weight loss
  • shortness of breath
  • feeling weak or tired
  • infections such as bronchitis or pneumonia that keep returning or will not clear
  • wheezing

If a person’s lung cancer spreads, they may experience:

  • bone pain
  • headache
  • weakness or numbness of the arm or leg
  • dizziness
  • balance problems
  • seizures
  • jaundice, a condition of the liver that can cause yellowing of the skin and eyes
  • swelling of lymph nodes

If a person notices any of these symptoms, they should contact a doctor as soon as possible. The earlier a healthcare professional diagnoses lung cancer, the easier it can be to treat the cancer.

Is EGFR lung cancer aggressive?

Since more EGRF-positive diagnoses are NCLSC, this is often an aggressive cancer with a high probability of death. Once it spreads, a person’s five-year survival rate with NSCLC is reduced to 40% or less.

Anyone can develop EGFR mutation lung cancer. However, it is more common in certain groups, including:

  • nonsmokers, or people who smoke very little
  • people who have lung adenocarcinoma
  • females
  • young adults with lung cancer
  • people of Asian or East Asian ethnicity

For lung cancers with EGFR mutations, doctors often prescribe targeted therapy, known as EGFR inhibitors. These drugs block signals from the EGFR protein that cause cancer cells to grow and divide.

EGFR inhibitors include:

  • osimertinib (Tagrisso)
  • amivantamab (Rybrevant) often used with lazertinib (Lazcluze)
  • afatinib (Gilotrif)
  • dacomitinib (Vizimpro)
  • erlotinib (Tarceva)
  • gefitinib (Iressa)

EGFR inhibitors may be prescribed different stages of lung cancer. For example, osimertinib may be used to treat stages 1–4 EGFR-mutated lung cancer, including after surgery to help reduce the risk of the cancer returning.

Although EGFR inhibitors can be effective treatments, they are not a cure. These drugs can only control the growth of the EGFR mutation lung cancer for several months or years. Over time, the cancer may become resistant to the EGFR inhibitor, meaning it stops responding to the treatment.

Other treatments

Depending on the stage of the cancer and the person’s overall health, treatment may also include:

  • surgery to remove the cancer
  • chemotherapy
  • radiation therapy
  • immunotherapy, which helps the immune system fight the cancer

In some cases, doctors may use combination therapy, such as targeted therapy along with chemotherapy or other treatments, to help improve outcomes or control the cancer.

Some people may also choose to participate in clinical trials, which study new or investigational treatments for EGFR-mutated lung cancer.

It’s important for a person to work with their doctor to determine the most appropriate treatment plan.

Before starting treatment, a doctor will order tests to determine the type of lung cancer a person has and whether or not it has an EGFR mutation.

There are two main ways a doctor can diagnose EGFR-positive lung cancer:

Comprehensive biomarker testing

This involves taking a sample of the lung tumor. The tissue is then analyzed using next-generation sequencing to check for EGFR mutations and other biomarkers.

Also known as a tissue biopsy, this is the standard method to guide treatment decisions.

Liquid biopsy

A liquid biopsy uses a blood sample to test for certain biomarkers, including EGFR mutations.

Liquid biopsy is often used when a tissue sample is unavailable, difficult to obtain, or to monitor how the cancer responds to treatment over time.

The survival rate for EGFR mutation lung cancer can depend on:

  • the stage at the time of diagnosis
  • a person’s age and overall health
  • the cancer’s response to treatment
  • the type of EGFR mutation

Research from 2020 involved reviewing clinical information for people with EGFR mutation lung adenocarcinoma that had spread to the brain. Findings showed that following treatment with EGFR inhibitors, the survival rates for people with EGFR mutation lung adenocarcinoma were:

  • 95.6% after a year
  • 74% after 2 years

Additionally, the researchers found that the median overall survival rate for people with this form of cancer was between 25.8 and 44.2 months.

EGFR mutation in lung cancer occurs due to a mutation in a person’s EGFR protein.

Various subtypes of EGFR mutations exist. The type of EGFR mutation a person has depends on how the EGFR’s DNA sequence has been altered.

EGFR mutation lung cancer is mostly found in non-small cell lung cancer. There are certain risk factors that can cause a person to have a higher chance of developing EGFR mutation lung cancer.

Depending on factors including a person’s age, overall health, and stage of diagnosis, the outlook for a person with EGFR mutation lung cancer can vary.

If a person notices any symptoms of lung cancer, it’s important that they speak with a doctor immediately.