FDA OKs First Liquid Biopsy for Lung Cancer Mutation

Nick Mulcahy


June 01, 2016

The US Food and Drug Administration (FDA) today approved the first blood-based genetic test that can detect epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer patients.

The agency approved the cobas EGFR Mutation Test v2 (Roche Molecular Systems), a blood-based companion diagnostic for the lung cancer drug erlotinib ( Tarceva, Astellas Pharma Technologies and Genentech).

EGFR mutations are present in 10% to 20% of non-small cell lung cancers (NSCLC).

NSCLC tumors may shed tumor DNA into the blood, making it possible to detect specific mutations. Blood testing for tumor DNA is also known as liquid biopsy.

"Approvals of liquid biopsy tests make it possible to deliver highly individualized health care for patients," said Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health, in a press statement.

Dr Gutierrez also said that a blood test is also relatively easy to perform: "Liquid biopsies also have the potential to allow physicians to identify patients whose tumors have specific mutations in the least invasive way possible."

The cobas EGFR Mutation Test v2 detects the presence of specific NSCLC mutations (exon 19 deletion or exon 21 [L858R] substitution mutations).

Notably, when these mutations are not detected in the blood, a traditional tumor biopsy should then be performed as a double check. Thus the beneficiaries of the test are most likely to be patients who may be too ill or are otherwise unable to provide a tumor specimen for EGFR testing.

The FDA first approved erlotinib in 2004 to treat patients with locally advanced or metastatic NSCLC after failure of at least one prior chemotherapy regimen.

In 2013, the FDA approved erlotinib for first-line treatment of patients with metastatic non-small cell lung cancer whose tumors have EGFR exon 19 deletions or L858R substitution mutations as detected by an FDA-approved tumor tissue test, the cobas EGFR Mutation Test v1.

The most common side effects of erlotinib are rash, diarrhea, anorexia, fatigue, difficulty breathing (dyspnea), cough, nausea, and vomiting, according to the FDA.

Erlotinib is not recommended for use in combination with platinum-based chemotherapy and the drug has not been evaluated as first-line treatment in patients with metastatic NSCLC whose tumors have EGFR mutations other than exon 19 deletions or L858R substitution mutations.

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