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Alk-mutation-gene-rearrangement



Why Get Tested

To detect an ALK gene rearrangement in tumor tissue in order to guide non-small cell lung cancer therapy

When To Get Tested

When you have been diagnosed with non-small cell lung cancer and your doctor is considering a therapeutic management plan that may include an ALK kinase inhibitor such as crizotinib

Sample Required

A sample of tumor tissue

Test Preparation Needed

None




Common Questions


ALK mutation analysis is used primarily to determine if a person with adenocarcinoma non-small cell lung cancer is likely to respond to an ALK kinase inhibitor drug therapy such as crizotinib This testing detects the presence of the most common ALK gene rearrangements in the DNA of cells in tumor tissue or the abnormal protein produced by the mutated gene in order to help guide cancer treatment This testing is typically ordered along with or as a follow-up test to EGFR and KRAS mutation testing If a non-small cell lung cancer has an EGFR mutation and lacks a KRAS mutation then the affected person is likely to respond to an anti-EGFR drug therapy tyrosine kinase inhibitor and further testing is usually not necessary However if the tumor is negative for an EGFR mutation then the person is not likely to respond to an anti-EGFR tyrosine kinase inhibitor ALK mutation testing is then used to determine whether the person s tumor would be likely to respond to an ALK kinase inhibitor If a person s tumor is negative for the most common ALK gene rearrangements tests for other less common mutations not detected by the current test or tests for the altered ALK protein may be used to help predict therapeutic responses In some cases testing for the altered ALK protein may be preferred over ALK gene rearrangement testing Two main methods of testing include Fluorescent in situ hybridization FISH this method looks at the genetic level for presence of the gene rearrangement it is currently the gold standard for evaluating non-small cell lung cancer tumors Immunohistochemistry IHC this method detects the altered ALK protein IHC is not widely available but is gaining in use

An ALK mutation test is usually ordered after an individual has been diagnosed with non-small cell lung cancer especially adenocarcinoma It is ordered when a person s tumor is unlikely to respond to a tyrosine kinase inhibitor and the health practitioner is considering an ALK kinase inhibitor drug therapy

If the cancer tissue contains a specific ALK gene rearrangement mutation or altered ALK protein then the affected person is likely to benefit from an ALK kinase inhibitor drug therapy such as crizotinib and is not likely to benefit from anti-EGFR drug therapies A person whose cancer does not have an ALK gene rearrangement is not likely to benefit from ALK kinase inhibitor drug therapy A person could have a negative test result if the tumor tissue sample is insufficient and or when the cancer is heterogeneous some cells contain the mutation and others do not Additionally there may be rare ALK mutations that are not detected by routine testing that looks for only the most common mutations

ALK gene rearrangements are most often seen in light smokers or non-smokers with adenocarcinoma non-small cell lung cancers especially women of Asian descent Although this is a relatively rare mutation the total number of people affected by lung cancer each year means that the test and potential drug therapy is applicable to thousands of people ALK mutations may also be seen in some T-cell lymphomas

Testing is not generally indicated unless a person has non-small cell lung cancer and a health practitioner is considering ALK kinase inhibitor drug therapy

This is not usually necessary but might occur if the health practitioner thought that the first sample tested might have been insufficient

Yes most people whose lung cancer has the ALK gene rearrangement will respond but a percentage will not Each person and each cancer is different Also a person may respond initially and then become resistant to the treatment

In most cases this is not recommended The drugs have been developed with specific associations and your lung cancer is not likely to respond if you do not meet the identified criteria

It may be available in some larger laboratories and hospitals designated as Comprehensive Cancer Centers by the National Cancer Institute but most often it will be sent to a reference laboratory

No it is not the genetics of the person that is being evaluated it is the genetic makeup of the cancer