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Disease/health condition - Cancer
Epidermal growth factor receptor (EGFR) gene mutation
Setting:
2. Laboratory
Tiered Testing Service:
Regional or provincial hospital with laboratory
Assay format
NAAT
Information History
First added in 2020
Changed in 2024
Purpose type
Aid to diagnosis, Treatment selection
Purpose
To aid in the diagnosis and treatment selection of non-squamous non-small cell lung carcinoma.
Specimen types
Formalin-Fixed, Paraffin-Embedded (FFPE) tissue blocks
WHO prequalified or recommended products
N/A
GMDN

58271

Epidermal growth factor receptor (EGFR) gene mutation/mRNA expression IVD, kit, nucleic acid technique (NAT)

A collection of reagents and other associated materials intended to be used to evaluate a clinical specimen to predict or monitor the response to treatment with epidermal growth factor receptor (EGFR) inhibitors by determining the EGFR mutation status or mRNA expression of the EGFR gene, using a nucleic acid technique (NAT).

The medical device term(s), code(s) and definition(s) in this section were retrieved from databases external to WHO. As there might be more than one name, definition and “Nomenclature Code” related to the specific medical device, please consult https://gmdnagency.org GMDN ®. © GMDN Agency 2005-2024
EMDN

W01060299

TESTS FOR ACQUIRED GENETIC OR CHROMOSOMAL ALTERATIONS - OTHER

The code(s) and term(s) in this section were observed and retrieved from public databases and have not been validated by health regulatory authorities. Please consult your regulatory agency and EMDN site: https://webgate.ec.europa.eu/dyna2/emdn
WHO supporting publications
World Health Organization. (‎2017)‎. WHO list of priority medical devices for cancer management. World Health Organization. https://iris.who.int/handle/10665/255262 ; World Health Organization. (‎2019)‎. Guide for establishing a pathology laboratory in the context of cancer control. World Health Organization. https://iris.who.int/handle/10665/330664
Technical specifications
N/A
Related Medical Devices in MeDevIS
SAGE IVD recommended including the epidermal growth factor receptor (EGFR) gene mutation test category in the third EDL:
• as a disease-specific IVD for use in clinical laboratories (EDL 3, Section II.b, Cancer);
• using a nucleic acid test format;
• to aid in the diagnosis and treatment of non-squamous non-small cell lung carcinoma. The group requested the addition of a note to the test category EDL entry stating that it is only recommended for use in specialized anatomical pathology laboratories.
Lung cancer is the most commonly diagnosed cancer worldwide. Among non-small cell lung carcinoma (NSCLC) cases there is a high prevalence of EGFR mutations, particularly in the Asia-Pacific region, where up to 76% of patients presenting with cancer have one. Therapies for EGFR-mutated lung cancers (TKIs) show a 60–70% response rate and are associated with a significant improvement in progression-free and overall survival compared with chemotherapy. They also have significantly fewer side effects and are available as oral medications. The first-generation TKIs are now available in generic form and are much more cost accessible. Some are also now included in the complementary list of the EML. The EGFR PCR test is recognized as the gold standard for detecting EGFR mutations. It does not form part of any guidelines (yet) but is already included in a WHO list for priority medical devices for cancer management. WHO experts advised that the quality of the specimen is critical to detection, suggesting that specimens need to be buffered to ensure that the DNA does not degrade and there is a PCR reaction. SAGE IVD noted a co-dependency between access to the EGFR test and treatment. Patients can only get the more effective medicines for EGFR-mutated NSCLC if they can prove their EGFR mutation status with a positive EGFR test result.
Diagnosis of EGFR mutations is recommended for treatment selection. There is some evidence that measurement with RT-PCR instead of Sanger sequencing (paired with tumour enrichment) and next-generation sequencing (NGS) is possible in a higher proportion of cases (less tumour content needed). Two FDA reports were provided, but only on analytical sensitivity. No evidence was provided on accuracy measures of RT-PCR in a prospective cohort of patients.
World Health Organization. (‎2021)‎. The selection and use of essential in vitro diagnostics: report of the third meeting of the WHO Strategic Advisory Group of Experts on In Vitro Diagnostics, 2020 (‎including the third WHO model list of essential in vitro diagnostics)‎. World Health Organization. https://iris.who.int/handle/10665/339064