Testing for RET is essential to identify patients who may be eligible for Retevmo1
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) recommend testing for RET alterations in appropriate patients with advanced and/or metastatic NSCLC and thyroid carcinoma* to determine if they are eligible for RET inhibitors such as selpercatinib (Retevmo)2,3
NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
Next-generation sequencing (NGS) can be an accurate and tissue-efficient method to test for driver RET alterations and other targetable biomarkers4-7†
An FDA-approved test for the detection of RET gene fusions and RET gene mutations is not currently available for Retevmo.1
Retevmo may affect both healthy cells and tumor cells, which can result in side effects, some of which can be serious.1
- Immunohistochemistry (IHC) is not preferred for detecting RET alterations due to low sensitivity and variable specificity15,16
- Test the tissue: molecular testing of FFPE tumor tissue specimens is preferred for detecting RET fusions and point mutations8,17-19
- In the clinical trial, identification of a RET gene alteration was prospectively determined in local laboratories using NGS, PCR, or FISH1
- IHC testing was not used in LIBRETTO-0011
Why NGS?
Broad molecular profiling to identify appropriate targeted therapies can improve outcomes in NSCLC20
- NCCN Guidelines for NSCLC recommend that, when feasible, molecular testing of NSCLC specimens be performed via a broad, panel-based approach, most typically performed by NGS2
- Because of potential tissue limitations in metastatic NSCLC and the increased number of actionable biomarkers, NGS testing is part of the most comprehensive strategy to identify appropriate targeted therapies7
- Consider NGS testing to identify the 69% of patients with lung adenocarcinoma who have a potentially actionable oncogenic driver alteration and may benefit from appropriate approved or investigational targeted therapy21,22
Emerging=biomarkers with therapies under investigation but not approved.
Other=unknown oncogenic driver detected.22
EGFR=EGFR sensitizing mutations including exon 20 insertions.22,29
EGFR other=secondary EGFR mutations, including Thr790Met and Cys797Ser, and other less common EGFR mutations.22
KRAS other=all KRAS mutations other than KRAS G12C.22,28
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®)
For NSCLC:
- recommend testing for RET fusions in eligible patients with metastatic non-small cell lung cancer2
- recommend molecular testing and strongly advise broad molecular profiling for multiple biomarkers, including RET, in eligible patients with metastatic NSCLC2*‡
*The NCCN Guidelines provide recommendations for certain individual biomarkers that should be tested and recommend testing techniques but do not endorse any specific commercially available biomarker assays or commercial laboratories.
†Through design and validation, the test has established high sensitivity, specificity, and reproducibility for the detection of genomic alterations.
‡It is recommended at this time that, when feasible, testing be performed via a broad, panel-based approach, most typically performed by NGS. For patients who, in broad panel testing, don’t have identifiable driver oncogenes (especially in never smokers), consider RNA-based NGS, if not already performed, to maximize detection of fusion events.
For Thyroid Carcinoma:
- recommend molecular testing for RET fusions and RET point mutations for certain patients with advanced or metastatic thyroid carcinomas3
Consider waiting for RET test results before making therapeutic decisions1
NGS testing
- NGS testing for RET fusions: when properly designed, NGS testing is able to detect known and unknown fusion events6
- A combination of RNA- and DNA-based NGS testing may be a more comprehensive approach to identify oncogenic drivers missed by DNA-based NGS alone30
Fluorescence in situ hybridization (FISH)
- FISH testing allows for detection of fusions regardless of fusion partner15
- Testing for RET fusions using FISH has demonstrated the potential to generate false negative results due to close proximity to partner genes15,31
Reverse transcription polymerase chain reaction (PCR)
- Reverse transcription PCR testing provides sensitive detection of known RET fusions with relatively fast turnaround time15,16,32
- Reverse transcription PCR testing does not detect unknown fusion partners and therefore may underestimate the prevalence of RET fusions15
Most common RET fusion partners identified in the LIBRETTO-001 phase I/II clinical trial:
NSCLC33:
- 59% KIF5B
- 22% CCDC6
- 11% Unknown§
- 6% Otherǁ
- 2% NCOA4
Thyroid cancer other than MTC34:
- 52% CCDC6
- 33% NCOA4
- 15% Other¶
§Unknown includes positive by FISH or PCR.
ǁOthers included KIAA1468(2), ARHGAP12, CCDC88C, CLIP1, DOCK1+RBPMS, ERC1, PRKAR1A, and TRIM24 (all 1 each).33
¶Others included CCDC1686, ERC1, KTN1, and RUFY (all 1 each).34
While germline testing in MTC is well established, the majority of cases are not inherited, highlighting the importance of testing the tumor tissue to identify somatic RET point mutations35,36
NGS testing
- NGS allows for multiplex testing on a small amount of tissue for the detection of rare, as well as common, cancer-related biomarkers4,7,38
- RET point mutations can be detected by NGS4-6
Quantitative PCR (qPCR)
- Established option that can detect RET-activating point mutations in MTC12-14
Sanger sequencing
- Can detect driver RET mutations; however, the sensitivity may be lower than NGS testing39
Most common RET mutations identified in the LIBRETTO-001 phase I/II clinical trial34:
- 57% M918T
- 19% Extracellular cysteine mutations
- 16% Other#
- 8% V804M/L
#Others included D631-L633delinsE(5), E632-L633del(4), A883F(4), D631-L633delinsV(2), L790F(2), D898-E901del(2), D898_E901del + D903_S904delinsEP, K666N, T636-V637insCRT, D378-G385delinsE (all 1 each).34
- While not recommended as a replacement for a diagnostic tissue biopsy, consider liquid biopsy when FFPE tumor tissue is unavailable or insufficient for molecular profiling17
- While a positive liquid biopsy result is considered reliable, a negative result requires confirmation with tumor tissue testing17
- NCCN Guidelines: principles of molecular and biomarker analysis in metastatic NSCLC2
- Plasma ctDNA (liquid biopsy) should not be used in lieu of a histologic tissue diagnosis
- Studies have demonstrated liquid biopsy to generally have very high specificity but significantly compromised sensitivity, with a false-negative rate of up to 30%
- Standards and guidelines for liquid biopsy testing for genetic alterations have not been established
Select testing that can detect driver RET fusions and point mutations in the appropriate tumors
The following commercial reference laboratories may offer testing for driver RET fusions and point mutations:
This list is not all-inclusive and does not represent all laboratories and tests. This list is intended for informational purposes and your consideration only, and is based on publicly available information for these organizations. Eli Lilly and Company (Lilly) makes no representations regarding the clinical or analytical validity, manufacturing quality, or design of the testing offered by the laboratories included on this list. Inclusion on this list does not represent an endorsement, referral, or recommendation by Lilly. Contact the laboratory for more information.
Tissue Biopsy Tests
Laboratory
|
Contact Info
|
---|---|
Caris Life Sciences® |
Contact Info:
T: 888-979-8669 E: CustomerSupport@carisls.com carismolecularintelligence.com |
Exact Sciences |
Contact Info:
T: 844-870-8870 exactsciences.com |
Foundation Medicine® |
Contact Info:
T: 888-988-3639 E: client.services@foundationmedicine.com foundationmedicine.com |
Integrated Oncology (LabCorp)/OmniSeq® |
Contact Info:
T: 800-710-1800 E: support@omniseq.com omniseq.com |
Mayo Clinic Laboratories |
Contact Info:
T: 800-533-1710 E: mcl@mayo.edu mayocliniclabs.com |
NeoGenomics Laboratories |
Contact Info:
T: 866-776-5907 E: client.services@neogenomics.com neogenomics.com |
PathGroup |
Contact Info:
T: 888-474-5227 pathgroup.com |
Quest Diagnostics™/Med Fusion | Quest Diagnostics™: Contact Info: T: 866-697-8378 questdiagnostics.com Med Fusion: Contact Info: T: 844-966-7050 E: clientservices@medfusionsvs.com medfusionservices.com |
Tempus |
Contact Info:
T: 800-739-4137 E: support@tempus.com tempus.com |
Liquid Biopsy Tests
Laboratory
|
Contact Info
|
---|---|
Biocept |
Contact Info:
T: 888-332-7729 E: customerservice@biocept.com biocept.com |
Biodesix® |
Contact Info:
T: 866-432-5930 biodesix.com |
Foundation Medicine® |
Contact Info:
T: 888-988-3639 E: client.services@foundationmedicine.com foundationmedicine.com |
Guardant Health® |
Contact Info:
T: 855-698-8887 E: clientservices@guardanthealth.com guardant360cdx.com |
Inivata™ |
Contact Info:
T: 844-464-8282 E: client.services@inivata.com inivata.com |
Integrated Oncology (LabCorp) |
Contact Info:
T: 800-710-1800 integratedoncology.com |
NeoGenomics Laboratories |
Contact Info:
T: 866-776-5907 E: client.services@neogenomics.com neogenomics.com |
Tempus |
Contact Info:
T: 800-739-4137 E: support@tempus.com tempus.com |
Test for RET1
Ensure your test can detect driver RET fusions in NSCLC and non-medullary thyroid cancer and driver RET mutations in MTC
ALK=anaplastic lymphoma kinase; BRAF=v-raf murine sarcoma viral oncogene homolog B; DNA=deoxyribonucleic acid; EGFR=epidermal growth factor receptor; FFPE=formalin-fixed paraffin-embedded; HER2=human epidermal growth factor receptor 2; KRAS=Kirsten rat sarcoma; MEK1=dual specificity mitogen-activated protein kinase kinase 1; METex14=mesenchymal-epithelial transition exon 14 skipping; MTC=medullary thyroid cancer; NCCN=National Comprehensive Cancer Network; NSCLC=non-small cell lung cancer; NTRK=neurotrophic receptor tyrosine kinase; PIK3CA=phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha; PTC=papillary thyroid cancer; RET=rearranged during transfection; RNA=ribonucleic acid; ROS1=reactive oxygen species 1.
References: 1. Retevmo (selpercatinib) [package insert]. Indianapolis, IN: Eli Lilly and Company; 2021. 2. Referenced with permission from The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Non-Small Cell Lung Cancer V5.2021. © National Comprehensive Cancer Network, Inc. 2021. All rights reserved. Accessed June 15, 2021. To view the most recent and complete version of the guidelines, go online to https://www.nccn.org. 3. Referenced with permission from The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Thyroid Carcinoma V1.2021. © National Comprehensive Cancer Network, Inc. 2021. All rights reserved. Accessed April 9, 2021. To view the most recent and complete version of the guidelines, go online to https://www.nccn.org. 4. Gregg JP, Li T, Yoneda KY. Molecular testing strategies in non-small cell lung cancer: optimizing the diagnostic journey. Transl Lung Cancer Res. 2019;8(3):286-301. 5. Suh JH, Schrock AB, Johnson A, et al. Hybrid capture-based comprehensive genomic profiling identifies lung cancer patients with well-characterized sensitizing epidermal growth factor receptor point mutations that were not detected by standard of care testing. Oncologist. 2018;23(7):776-781. 6. Mertens F, Johansson B, Fioretos T, et al. The emerging complexity of gene fusions in cancer. Nat Rev Cancer. 2015;15(6):371-381. 7. Suh JH, Johnson A, Albacker L, et al. Comprehensive genomic profiling facilitates implementation of the National Comprehensive Cancer Network Guidelines for lung cancer biomarker testing and identifies patients who may benefit from enrollment in mechanism-driven clinical trials. Oncologist. 2016;21(6):684-691. 8. Drilon A, Hu ZI, Lai GGY, et al. Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes. Nat Rev Clin Oncol. 2018;15(3):151-167. 9. Lee M-Y, Ku BM, Kim HS, et al. Genetic alterations and their clinical implications in high-recurrence risk papillary thyroid cancer. Cancer Res Treat. 2017;49(4):906-914. 10. Prescott JD, Zeiger MA. The RET oncogene in papillary thyroid carcinoma. Cancer. 2015;121(13):2137-2146. 11. Elisei R, Tacito A, Ramone T, et al. Twenty-five years experience on RET genetic screening in hereditary MTC: an update on the prevalence of germline RET mutations. Genes (Basel). 2019;10(9). doi:10.3390/genes10090698. 12. Matsuda K. PCR-based detection methods for single-nucleotide polymorphism or mutation: real-time PCR and its substantial contribution toward technological refinement. Adv Clin Chem. 2017;80:45-72. 13. Oczko-Wojciechowska M, Swierniak M, Krajewska J, et al. Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations. Sci Rep. 2017;7:42074. doi:10.1038/srep42074. 14. Agrawal N, Jiao Y, Sausen M, et al. Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab. 2013;98(2):E364-E369. 15. Ferrara R, Auger N, Auclin E, et al. Clinical and translational implications of RET rearrangements in non-small cell lung cancer. J Thorac Oncol. 2018;13(1):27-45. 16. Naidoo J, Drilon A. Molecular diagnostic testing in non-small cell lung cancer. Am J Hematol Oncol. 2014;10(4):4-11. 17. Rolfo C, Mack PC, Scagliotti GV, et al. Liquid biopsy for advanced non-small cell lung cancer (NSCLC): a statement paper from the IASLC. J Thorac Oncol. 2018;13(9):1248-1268. 18. Dietel M, Bubendorf L, Dingemans A-M, et al. Diagnostic procedures for non-small-cell lung cancer (NSCLC): recommendations of the European Expert Group. Thorax. 2016;71(2):177-184. 19. Lindeman NI, Cagle PT, Aisner DL, et al. Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors: guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Thorac Oncol. 2018;13(3):323-358. 20. Singal G, Miller PG, Agarwala V, et al. Association of patient characteristics and tumor genomics with clinical outcomes among patients with non-small cell lung cancer using a clinicogenomic database. JAMA. 2019;321:1391-1399. 21. Fernandes MGO, Jacob M, Martins N, et al. Targeted gene next-generation sequencing panel in patients with advanced lung adenocarcinoma: paving the way for clinical implementation. Cancers (Basel). 2019;11(9):1229. 22. Hirsch FR, Scagliotti GV, Mulshine JL, et al. Lung cancer: current therapies and new targeted treatments. Lancet. 2017;389:299-311. 23. Drilon A, Oxnard GR, Tan DSW, et al. Efficacy of selpercatinib in RET fusion–positive non–small-cell lung cancer. N Engl J Med. 2020;383(9):813-824. 24. Amatu A, Sartore-Bianchi A, Siena S. NTRK gene fusions as novel targets of cancer therapy across multiple tumour types. ESMO Open. 2016;1(2):e000023. doi:10.1136/esmoopen-2015-000023. 25. Vansteenkiste JF, Van De Kerkhove C, Wauters E, et al. Capmatinib for the treatment of non-small cell lung cancer. Expert Rev Anticancer Ther. 2019;19(8):659-671. 26. FDA approves first targeted therapy to treat aggressive form of lung cancer. News release. FDA. May 6, 2020. Accessed May 21, 2020. https://www.fda.gov/news-events/press-announcements/fda-approves-first-targeted-therapy-treat-aggressive-form-lung-cancer. 27. Planchard D, Besse B, Groen HJM, et al. Dabrafenib plus trametinib in patients with previously treated BRAF(V600E)-mutant metastatic non-small cell lung cancer: an open-label, multicentre phase 2 trial. Lancet Oncol. 2016;17(7):984-993. 28. FDA approves first targeted therapy for lung cancer mutation previously considered resistant to drug therapy. News release. FDA. May 28, 2021. Accessed June 17, 2021. https://www.fda.gov/news-events/press-announcements/fda-approves-first-targeted-therapy-lung-cancer-mutation-previously-considered-resistant-drug. 29. FDA approves first targeted therapy for subset of non-small cell lung cancer. News release. FDA. May 21, 2021. Accessed June 30, 2021. https://www.fda.gov/news-events/press-announcements/fda-approves-first-targeted-therapy-subset-non-small-cell-lung-cancer. 30. Benayed R, Offin M, Mullaney K, et al. High yield of RNA sequencing for targetable kinase fusions in lung adenocarcinomas with no mitogenic driver alteration detected by DNA sequencing and low tumor mutation burden. Clin Cancer Res. 2019;25(15):4712-4722. 31. Lee SE, Lee B, Hong M, et al. Comprehensive analysis of RET and ROS1 rearrangement in lung adenocarcinoma. Mod Pathol. 2015;28(4):468-479. 32. Bustin SA, Nolan T. Pitfalls of quantitative real-time reverse-transcription polymerase chain reaction. J Biomol Tech. 2004;15(3):155-166. 33. Drilon A, Oxnard G, Wirth L, et al. Registrational results of LIBRETTO-001: a phase 1/2 trial of selpercatinib (LOXO-292) in patients with RET fusion-positive lung cancers. Presented at: 2019 World Conference on Lung Cancer. September 7–10, 2019; Barcelona, Spain. 34. Wirth L, Sherman E, Drilon A, et al. Registrational results of LIBRETTO-001: a phase 1/2 trial of selpercatinib (LOXO-292) in patients with RET-altered thyroid cancers. Presented at: 2019 ESMO Congress. September 27–October 1, 2019; Barcelona, Spain. 35. Nosé V. Familial thyroid cancer: a review. Mod Pathol. 2011;24(Suppl 2):S19-S33. 36. Mohammadi M, Hedayati M. A brief review on the molecular basis of medullary thyroid carcinoma. Cell J. 2017;18(4):485-492. 37. Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015;25(6):567-610. 38. Yu TM, Morrison C, Gold EJ, et al. Multiple biomarker testing tissue consumption and completion rates with single-gene tests and investigational use of Oncomine Dx target test for advanced non—small-cell lung cancer: a single-center analysis. Clin Lung Cancer. 2019;20(1):20-29.e8. 39. Simbolo M, Mian C, Barollo S, et al. High-throughput mutation profiling improves diagnostic stratification of sporadic medullary thyroid carcinomas. Virchows Arch. 2014;465(1):73-78.