Addition of Rearrangement (fusion) Testing in 49 Driver Genes to Molecular Testing for Lung Cancer

Dr. Garyfalia Karponi

Targeted therapy represents one of the most important developments in modern oncology and has radically changed the approach to the treatment of lung cancer, particularly non-small cell lung cancer (NSCLC). Unlike chemotherapy, which acts non-specifically on all rapidly dividing cells, targeted therapy interferes with specific molecular pathways that are responsible for the growth and proliferation of cancer cells.

Thanks to rapid scientific advances, targeted therapy has now transformed lung cancer from a disease with limited treatment options into a field of personalized medicine, where treatment is selected based on each patient’s molecular profile.

What are rearrangements (fusions)?

Rearrangements (fusions) are a category of genomic alterations that are attractive both as therapeutic targets and as diagnostic tools, due to their inherent expression exclusively in cancer tissues. In several cancers, rearrangements of specific genes are already pharmacologically targetable, while many of them are found in more than one type of cancer and are therefore characterized as tumor-agnostic.

Main categories of targeted therapies for rearrangements in NSCLC

ALK – e.g. EML4-ALK. Targeted with crizotinib, ceritinib, alectinib, brigatinib and lorlatinib.

ROS1 – e.g. CD74-ROS1. Treated with crizotinib, entrectinib, lorlatinib, ceritinib and repotrectinib.

RET – e.g. KIF5B-RET, CCDC6-RET. Targeted with selpercatinib and pralsetinib.

NTRK – e.g. SQSTM1-NTRK1/2. Treated with entrectinib, larotrectinib and repotrectinib.

NRG1 – targeted with zenocutuzumab.

Advantages

Greater efficacy in selected patients.

Usually better tolerability and fewer side effects compared with chemotherapy.

Possibility of oral administration, in tablet form, for many therapies.

Preservation of valuable molecular information and the possibility for eligible patients to participate in clinical trials for emerging biomarkers.

Which patients are eligible for targeted therapy?

Not all patients are suitable candidates for targeted therapy, as molecular testing for biomarkers is required in order to determine whether the relevant genomic alteration is present.

What we offer

With respect for the oncology patient and the treating physician, MIKRODIAGNOSTICS will henceforth offer testing for rearrangements in 49 driver genes, instead of the 6 genes previously offered, as part of the PulmonArray Broad v3 test, at no additional cost. The table below lists the 49 driver genes tested:

Contact us for more information.

Garyfalia Karponi, MSc, PhD
Molecular Biologist–Geneticist
Certified Laboratory Geneticist
Chief Scientific Officer, Department of Molecular Diagnostics