Test Catalog

Test Name

Test ID: LUNGR    
Lung Cancer Rearrangement Testing, Tumor

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying lung tumors that may respond to targeted therapies by simultaneously assessing multiple genes involved in rearrangements resulting in fusion transcripts

 

Diagnosis and management of patients with lung cancer

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test uses next-generation sequencing to identify rearrangements (fusions) involving ALK, ROS1, RET, and NTRK1. See Activated/Partner Gene Breakpoints Resulting in Targeted Fusion Transcripts Interrogated by Lung Panel in Special Instructions for details regarding the targeted gene regions evaluated by this test.

 

Of note, this test is performed to evaluate rearrangements (fusions) within solid tumor samples. This test is not intended for use for hematological malignancies.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, slide review will always be performed at an additional charge.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the FDA for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.

 

Next-generation sequencing has recently emerged as an accurate, cost-effective method to identify alterations across numerous genes known to be associated with response or resistance to specific targeted therapies. This test uses formalin-fixed paraffin-embedded tissue or cytology slides to assess for common rearrangements (fusions) involving 4 genes known to be associated with lung cancer. The results of this test can be useful for assessing prognosis and guiding treatment of individuals with lung tumors. These data can also be used to help determine clinical trial eligibility for patients with alterations in genes not amenable to current FDA-approved targeted therapies.

 

See Activated/Partner Gene Breakpoints Resulting in Targeted Fusion Transcripts Interrogated by Lung Panel in Special Instructions for details regarding the targeted gene regions evaluated by this test.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretative report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.

 

This test is not intended for use for hematological malignancies.

 

A negative (wild-type) result does not rule out the presence of a rearrangement (fusion) that may be present but below the limits of detection of this assay.

 

Gene fusions (rearrangements) involving ALK, ROS1, RET and NTRK1 genes only will be detected. This test does not detect point mutations, insertion/deletion mutations, large single or multiexon deletions or duplications, or genomic copy number variants in any of the genes tested.

 

Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure.

Supportive Data

We have developed a next-generation sequencing assay to detect gene rearrangements (fusions) that can be used to assist in predicting prognosis and identifying targeted therapies for the management of patients with lung cancer. This assay has been shown to be very reproducible, having a 100% concordance for intra- and interassay reproducibility experiments.

 

We observed 100% concordance, detecting rearrangements resulting in fusion transcripts in 26 of 26 unique samples with previously detected by fluorescent in situ hybridization (FISH) or another sequencing assay. These rearrangements involved the ALK (n=19), ROS1 (n=3), and RET (n=4) genes. No fusion transcripts were detected in 72 unique samples that had mutually exclusive mutations or were negative for rearrangements as assessed by standard FISH analysis.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Mok TS: Personalized medicine in lung cancer: What we need to know. Nat Rev Clin Oncol 2011;8:661-668

2. Cheng L, Alexander RE, Maclennan GT, et al: Molecular pathology of lung cancer: key to personalized medicine. Mod Path 2012;25(3):346-369

3. Takeuchi K, Soda M, Togashi Y, et al: RET, ROS1 and ALK fusions in lung cancer. Nat Med 2012;18(3):378-381

4. Vaishnavi A, Capelletti M, Le AT, et al: Oncogenic and drug-sensitive NTRK1 rearrangements in lung cancer. Nat Med 2013 Nov;19(11):1469-1472

Special Instructions Library of PDFs including pertinent information and forms related to the test