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PATHOLOGY

ESMO releases the first guideline on NGS testing in cancers

Medical writer: Kirsty LEE | Last updated: 7 September 2020 | In: Breast Cancer, Gastrointestinal Cancer, Genitourinary Cancer, Gynaecological Cancer, Lung Cancer, Oncology, Targeted Therapies, Pathology

Article Keywords

FISH, IHC, next-generation sequencing, RT-PCR, NF1, NGS, AKT1, BRCA, ESR1, PARPi, PTEN, AKT1E17K, PARP, ERBB2

Precision therapies were first approved for cancer in 1998, when trastuzumab was approved for HER2+ breast cancer, opening the door for other targeted therapies such as imatinib for Philadelphia chromosome-positive chronic myelogenous leukaemia.1Colomer R et al. EClinicalMedicine. 2020;25. Although initially companion diagnostics were based on molecular techniques including immunohistochemistry (IHC), fluorescent in situ hybridisation (FISH) and reverse transcriptase polymerase chain reaction (RT-PCR), more recently there has been a paradigm shift towards next-generation sequencing (NGS).1Colomer R et al. EClinicalMedicine. 2020;25. NGS allows for the simultaneous sequencing of numerous genes at a low cost, providing oncologists with information on the mutations present in a tumour and guiding the choice of treatment.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014.

While NGS testing has been widely adopted, recommendations about its use in daily practice have not been proposed by medical societies.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014. The European Society for Medical Oncology (ESMO) has recently released the first set of guidelines on the use of NGS testing for metastatic cancers, published in Annals of Oncology.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014.

Overall, tumour multigene NGS is recommended by ESMO for use in patients with advanced non-squamous non-small cell lung cancer (NSCLC), prostate, ovarian cancer, and cholangiocarcinoma.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014.  Currently, NGS is not recommended for other cancers in clinical practice but could be used for research purposes.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014. Particularly for prostate cancer, in countries where poly (ADP-ribose) polymerase (PARP) inhibitors are available, it is recommended that NGS is performed to assess the mutational status of BRCA1/2.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014. However, larger panels are unlikely to be cost-effective so should only be used when there are specific agreements with payers.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014.

There is no current need for NGS testing with metastatic breast cancer (mBC), as PIK3CA status can be determined by RT-PCR, and HER2 testing can be accurately carried out with IHC and, where indicated, a confirming FISH.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014. However, it is vital to include mBC patients in molecular screening programmes for research; mBC patients testing positive for alterations in the AKT1E17K, PTEN, ERBB2, ESR1 and NF1 genes may be candidates for clinical trials with novel targeted or biological therapies.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014.

Tumour multigene NGS can be an alternative to RT-PCR in metastatic colorectal cancer (mCRC) only if it does not generate extra cost compared with routine techniques, as it would allow for the detection of microsatellite instability high (MSI-H) and ERBB2 amplifications.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014. Similarly with mBC patients, clinical research centres should aim to include mCRC patients in molecular screening programmes to open access for targeted and biological agents in clinical studies.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014. Regarding cancers such as hepatocellular carcinoma and metastatic gastric cancer where patients with MSI-H and NTRK fusion-positive tumours are expected to derive benefit of targeted agents, detection of these fusions should be done with cheaper standard methods if multigene sequencing is not needed.2Mosele F et al. Ann Oncol. Doi: 10.1016/j.annonc.2020.07.014.


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Reference

  1. Colomer R et al. EClinicalMedicine. 2020;25.
  2. Mosele F et al. Ann Oncol. Published online August 24, 2020.

Disclaimer

This article is not medical advice. Patients should seek personal assessment by a licenced specialist. Physicians are recommended to read the full publication(s) as cited in the article before making medical decisions. This article does not supersede nor replace the published article(s).

© Copyright 2020 MediPaper Medical Communications Ltd. – ESMO releases the first guideline on NGS testing in cancers

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0 0 Stijn van den Borne, MSc https://medi-paper.com/wp-content/uploads/2020/02/MediPR-MediPaper-Medical-Communications-Ltd-Healthcare-Writers-Medical-Writers-Medical-Writer-Agency-Hong-Kong-Medical-Writing-Services-Solutions-Quote-醫學寫作-香港-醫學作家香港-medical-PR-public-relations-1030x374.png Stijn van den Borne, MSc2016-05-29 00:44:422016-05-29 00:44:42ASCO16 Nivolumab (Opdivo©) Data
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