The Detection of EGFR Mutations in Liquid Based Cytology Samples

2019-09-17 02:47:35 | BioPortfolio


This study will investigate whether liquid based cytology specimens are a feasible alternative to formalin-fixed paraffin embedded histology samples for detection of epidermal growth factor receptor (EGFR) mutations in lung adenocarcinoma using the Biocartis Idylla platform. The Biocartis Idylla is a fully automated, real-time PCR based molecular diagnostics system. The Idylla carries out the entire analytical process from sample to result.

This study will be based in the cytology department at Royal Cornwall Hospital as part of a service improvement. It will use residual material from existing samples sent to the laboratory as part of the routine service. It will use existing material from patients diagnosed with lung adenocarcinoma by cytology using the current, validated procedure which uses formalin-fixed paraffin embedded (FFPE) samples over a 10 month period. EGFR mutation results obtained using the validated procedure (formalin fixed paraffin embedded) will be compared to those produced using liquid based cytology samples.


The presence of activating epidermal growth factor receptor (EGFR) mutations identifies patients with lung adenocarcinoma in which EGFR tyrosine kinase inhibitors (TKI) can be a potential first-line treatment. The TKIs currently available are erlotinib, gefitinib and afatinib, which work by blocking receptor tyrosine kinase activity, thereby halting cell proliferation and causing cell death. Several studies have found that first-line TKI treatment prolongs progression free survival in comparison to standard chemotherapy, and is also associated with a more favourable tolerability and less adverse effects.

Samples for EGFR mutation analysis are collected from patients by endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and bronchial brushings and washings. EBUS-TBNA provides a minimally invasive method for tissue sampling from radiologically suspicious lymph nodes in the chest using a fine-gauge needle. Samples obtained are collected and sent to the laboratory for processing. At present, laboratories rely on the use of formalin-fixed paraffin embedded (FFPE) samples for EGFR testing, therefore clots are produced in the laboratory using the collected tissue fragments. The clotted sample must then be fixed in formalin before being processed in the histology laboratory to produce slides for microscopic examination by the consultant pathologist. Once adenocarcinoma is diagnosed, FFPE samples are then sent for EGFR mutation analysis. The current laboratory process takes approximately 5 days.

Liquid based cytology (LBC) specimens obtained through the same sampling procedures are also prepared in the laboratory and fixed using a methanol based solution (PreservCyt). Previous research has been carried out to determine whether LBC samples can be used instead of FFPE samples for the detection of EGFR mutations with favourable results. Examples of this include research by Zhao et al (2017), Satouchi et al (2017), De Luca et al (2017) and Malapelle et al (2016). A switch to the use of LBC samples for EGFR testing would remove multiple processing steps in the sample pathway to mutation testing. Immunocytochemistry will be required in the majority of cases for confirmation of adenocarcinoma. This faster pathway would be beneficial in cases of already confirmed adenocarcinoma for second line EGFR treatment testing (T790M) and in cases where the residual cytology sample, that would normally be discarded, can be utilised for testing, optimising the potential of the sampling.

This study will investigate whether LBC specimens are a feasible alternative to FFPE samples for detection of EGFR mutations using the Biocartis Idylla platform.

If liquid based cytology samples are found to be a feasible alternative this could result in:

- Quicker turnaround time of results in cases of unequivocal adenocarcinoma. This would provide earlier access to TKIs allowing for optimal patient management.

- Easier sample preparation within the laboratory

- Would allow for efficient use of all material acquired from the sampling procedures. For example additional testing could be performed on the FFPE tissue in place of EGFR testing which could aid in diagnosis. Increase in efficient use of material could also prevent repeats of the EBUS procedure on patients.

- Methanol has been found to be a superior fixative than formalin. Use of liquid based cytology samples may allow for better results from molecular testing.

- Would provide support to the idea that molecular testing for other cancers may be able to be carried out on liquid based cytology samples for example BRAF mutation testing for melanoma. Also provides support of the use of other liquid samples for molecular testing such as blood samples which could be tested for circulating tumour cells (less invasive sampling).

Study Design


Adenocarcinoma of Lung


Cytopathology Laboratory Royal Cornwall Hospital
United Kingdom




Royal Cornwall Hospitals Trust

Results (where available)

View Results


Published on BioPortfolio: 2019-09-17T02:47:35-0400

Clinical Trials [1580 Associated Clinical Trials listed on BioPortfolio]

Treatment of Multifocal Lung Adenocarcinoma

To gather preliminary safety and outcome data for the multimodality treatment of lung adenocarcinoma in the setting of multifocal BAC.

Bevacizumab and Radiotherapy for Oligometastasis of Lung Adenocarcinoma With Negative Driver Gene

This prospective phase II study is determined to explore the efficacy and safety of radiotherapy and bevacizumab maintenance therapy for oligometastatic lung adenocarcinoma with negative d...

Chemotherapy Plus Gefitinib for Advanced Lung Adenocarcinoma and Sensitive EGFR Mutations: a Randomized Controlled Trial

The purpose of this study is to compare chemotherapy and gefitinib in combination with gefitinib alone as first-line therapy for adenocarcinoma, in terms of efficacy and safety.

A+C in Metastatic Lung Adenocarcinoma Cancer

This is a phase II, prospective, single arm, non comparative study with crizotinib combined with bevacizumab in treatment-naive lung adenocarcinoma cancer patients with ALK translocation o...

Bevacizumab After Chemoradiotherapy For Locally Advanced Lung Adenocarcinoma

This prospective phase II study is to determine the efficacy and safety of bevacizumab maintenance therapy after concurrent chemoradiotherapy in locally advanced lung adenocarcinoma

PubMed Articles [4389 Associated PubMed Articles listed on BioPortfolio]

The clinical responses of TNIP2-ALK fusion variants to crizotinib in ALK-rearranged lung adenocarcinoma.

Anaplastic lymphoma kinase (ALK) has been proven to be another driver oncogene that accounts for 3%-7% of non-small-cell lung cancer, and it is more common in young patients and nonsmokers. ALK rearra...

Problems in the Reproducibility of Classification of Small Lung Adenocarcinoma: An International Interobserver Study.

The 2015 WHO classification for lung adenocarcinoma (ACA) provides criteria for adenocarcinoma in-situ (AIS), minimally invasive adenocarcinoma (MIA), and invasive adenocarcinoma (INV), but differenti...

GBX2, as a tumor promoter in lung adenocarcinoma, enhances cells viability, invasion and migration by regulating the AKT/ERK signaling pathway.

Increasing evidence shows that GBX2 is involved in multiple cancers. However, whether GBX2 has an effect on the lung adenocarcinoma remains unclear. Here, we tried to investigate the functions of GBX2...

Tumor-promoting activity of long non-coding RNA LINC00466 in lung adenocarcinoma via microRNA-144-regulated HOXA10 axis.

Previous investigations have implicated long non-coding RNAs (lncRNAs) in lung adenocarcinoma, which is an aggressive disease with poor prognosis and high mortality. Through the alteration of lung ade...

LncRNA TTN-AS1 drives invasion and migration of lung adenocarcinoma cells via modulation of miR-4677-3p/ZEB1 axis.

Lung adenocarcinoma is the most prevalent type of lung cancer with a high incidence and mortality worldwide. Metastasis is the major cause of high death rate in lung cancer and the potential mechanism...

Medical and Biotech [MESH] Definitions

A lesion with cytological characteristics associated with invasive adenocarcinoma but the tumor cells are confined to the GLANDULAR EPITHELIAL CELLS of origin. Adenocarcinoma in situ of the CERVIX and the LUNG are the most common.

A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.

An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed)

An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)

An adenocarcinoma with a hard (Greek skirrhos, hard) structure owing to the formation of dense connective tissue in the stroma. (From Dorland, 27th ed)

More From BioPortfolio on "The Detection of EGFR Mutations in Liquid Based Cytology Samples"

Quick Search

Relevant Topics

A diagnostic test is any kind of medical test performed to aid in the diagnosis or detection of disease. For example: to diagnose diseases to measure the progress or recovery from disease to confirm that a person is free from disease Clin...

Pulmonary relating to or associated with the lungs eg Asthma, chronic bronchitis, emphysema, COPD, Cystic Fibrosis, Influenza,  Lung Cancer, Pneumonia, Pulmonary Arterial Hypertension, Sleep Disorders etc Follow and track Lung Cancer News ...

Polymerase Chain Reaction (PCR)
PCR (Polymerase Chain Reaction) uses the ability of DNA polymerase (enzymes that create DNA molecules by assembling nucleotides, the building blocks of DNA. These enzymes are essential to DNA replication and usually work in pairs to create two ident...

Searches Linking to this Trial