SCIENTIFIC BACKGROUND

AKT1, ALK, APC, ARAF, ATM, BRAF, BRCA2, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, JAK2, KEAP1, KRAS, MAP2K1, MET, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, POLE, PTEN, RAF1, RET, ROS1, SMAD4, STK11, TP53

Category:

Scientific Background

According to World Health Organisation, lung cancer is the second most common type worldwide, with more than 2 million cases in 2020. Non-small cell lung cancer (NSCLC) is a type of lung cancer and accounts for 80-85% of all lung cancer cases. There are three types of NSCLC: adenocarcinomas, squamous cell carcinoma, and large cell carcinoma. These cancers originate from different types of lung cells depending on the cancer type. Different risk factors such as hereditary and environmental factors can contribute to NSCLC development. Mutations in driver genes, such as EGFR, ALK, and ROS1 among others, can lead to cancer initiation and progression. Detecting the genetic alterations that contribute to NSCLC can help in identifying available FDA/EMA approved targeted therapies which might contribute to improvement of the overall survival of cancer patients.

 

Microsatellite instability (MSI) immunotherapy biomarker is also tested in this panel. FDA approved immunotherapy drug pembrolizumab is applicable for patients with MSI-high status.

 

How many genes are tested in this panel?

36 genes

 

Recommendations by professional bodies

“Given the important practical advantages of liquid biopsies — faster results, the ability to test most patients regardless of access to interventional radiology — a liquid biopsy first strategy is recommended as an alternative option to tissue genotyping, in particular for aggressive tumour types where time to result is clinically important, such as advanced NSCLC. The same applies when tissue biopsy is unavailable or inappropriate” (Pascual et al., 2022; ESMO recommendations).

ESMO recommends that liquid biopsy can be performed to analyse oncogenic driver and resistance mutations for metastatic NSCLC patients (Hendriks et al., 2023)

 

References and more information: 

Information obtained from American Cancer Society, World cancer Research Fund international and World Health Organisation

Pascual J, Attard G, Bidard FC, Curigliano G, De Mattos-Arruda L, Diehn M, Italiano A, Lindberg J, Merker JD, Montagut C, Normanno N, Pantel K, Pentheroudakis G, Popat S, Reis-Filho JS, Tie J, Seoane J, Tarazona N, Yoshino T, Turner NC. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2022 Aug;33(8):750-768. doi: 10.1016/j.annonc.2022.05.520. Epub 2022 Jul 6. PMID: 35809752.

Hendriks LE, Kerr KM, Menis J, Mok TS, Nestle U, Passaro A, Peters S, Planchard D, Smit EF, Solomon BJ, Veronesi G, Reck M; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Non-oncogene-addicted metastatic non-small-cell lung cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2023 Jan 17:S0923-7534(22)04785-8. doi: 10.1016/j.annonc.2022.12.013. Epub ahead of print. PMID: 36669645.

GENES

AKT1, ALK, APC, ARAF, ATM, BRAF, BRCA2, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, JAK2, KEAP1, KRAS, MAP2K1, MET, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, POLE, PTEN, RAF1, RET, ROS1, SMAD4, STK11, TP53
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