Useful For
Suggests clinical disorders or settings where the test may be helpful
Useful For
Suggests clinical disorders or settings where the test may be helpful
Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy
Stratifying prognosis of metastatic breast cancer
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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 targeted next-generation sequencing to evaluate for somatic mutations within the ESR1 gene. See Targeted Genes and Methodology Details for ESR1 Mutation Analysis for details regarding the targeted gene regions evaluated by this test.
Note: This test is performed to evaluate for somatic mutations within solid tumor samples. It does not assess for germline alterations within the ESR1 gene.
Additional Tests
Lists tests that are always performed, at an additional charge, with the initial tests.
Additional Tests
Lists tests that are always performed, at an additional charge, with the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Special Instructions
Library of PDFs including pertinent information and forms related to the test
- Tissue Requirements for Solid Tumor Next-Generation Sequencing
- Targeted Genes and Methodology Details for ESR1 Mutation Analysis
Method Name
A short description of the method used to perform the test
Method Name
A short description of the method used to perform the test
Sequence Capture and Targeted Next-Generation Sequencing (NGS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
ESR1 Mutations Analysis, Tumor
Aliases
Lists additional common names for a test, as an aid in searching
Aliases
Lists additional common names for a test, as an aid in searching
Endocrine therapy
ER
ER positive
ESR1
Estrogen receptor 1
Metastatic breast cancer
Next Gen Sequencing Test
NGS
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
Specimen Type
Describes the specimen type validated for testing
Specimen Type
Describes the specimen type validated for testing
Varies
Necessary Information
A pathology report (final or preliminary), at minimum containing the following information, must accompany specimen for testing to be performed:
1. Patient name
2. Block number-must be on all blocks, slides, and paperwork (can be handwritten on the paperwork)
3. Tissue collection date
4. Source of the tissue
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
This assay requires at least 20% tumor nuclei.
-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue 216mm(2)
-Minimum amount of tumor area: tissue 36mm(2)
-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.
-Tissue fixation: 10% neutral buffered formalin, not decalcified
-For specimen preparation guidance, see Tissue Requirement for Solid Tumor Next-Generation Sequencing. In this document, the sizes are given as 4mm x 4mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3mm x 1mm x 10 slides: approximate/equivalent to 36mm(2).
Preferred:
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.
Acceptable:
Specimen Type: Tissue slides
Slides: 1 Stained and 10 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Note: The total amount of required tumor nuclei can be obtained by scraping up to 10 slides from the same block.
Additional Information: Unused unstained slides will not be returned.
Specimen Type: Cytology slides (direct smears or ThinPrep)
Slides: 1 to 3 Slides
Collection Instructions: Submit 1 to 3 slides stained and cover slipped with a preferred total of 5000 nucleated cells, or a minimum of at least 3000 nucleated cells.
Note: Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.
Additional Information: Cytology slides will not be returned.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Special Instructions
Library of PDFs including pertinent information and forms related to the test
- Tissue Requirements for Solid Tumor Next-Generation Sequencing
- Targeted Genes and Methodology Details for ESR1 Mutation Analysis
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
See Specimen Required
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded, except for cytology slides Extracted nucleic acid (DNA/RNA) | Reject |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Useful For
Suggests clinical disorders or settings where the test may be helpful
Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy
Stratifying prognosis of metastatic breast cancer
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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 targeted next-generation sequencing to evaluate for somatic mutations within the ESR1 gene. See Targeted Genes and Methodology Details for ESR1 Mutation Analysis for details regarding the targeted gene regions evaluated by this test.
Note: This test is performed to evaluate for somatic mutations within solid tumor samples. It does not assess for germline alterations within the ESR1 gene.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The ESR1 (estrogen receptor 1) gene encodes an estrogen receptor that regulates cell growth through activation of downstream signaling pathways upon binding of estrogen. Tumors demonstrating estrogen receptor expression by immunohistochemistry (ER-positive) are candidates for endocrine therapy, such as selective estrogen receptor modulators (SERM), selective estrogen receptor degraders or downregulators (SERD), and aromatase inhibitors. ESR1 mutations are rarely observed in primary tumors; however, mutations in the ligand-binding domain of ESR1 can occur secondarily after exposure to aromatase inhibitors and other endocrine therapies in ER-positive metastatic breast tumors, frequently with multiple different mutations in ESR1 occurring together. Current data suggests that ESR1 mutations mitigate resistance to aromatase inhibitors and decrease sensitivity to SERM and SERD. Studies also suggest that ESR1 mutations are an independent indicator of poor prognosis.
This test assesses for somatic mutations in the ligand-binding domain of the ESR1 gene associated with acquired resistance to endocrine therapy in patients with ER-positive metastatic breast cancer.
See Targeted Genes and Methodology Details for ESR1 Mutation Analysis 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.
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 interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
Interpretation
Provides information to assist in interpretation of the test results
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
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.
DNA variants of uncertain significance may be identified.
A negative result does not rule out the presence of a variant that may be present but below the limits of detection of this assay. The analytical sensitivity of this assay for sequence reportable alterations is 5% mutant allele frequency with a minimum coverage of 500X in a sample with 20% or more tumor content.
Point mutations and small insertion/deletion mutations will be detected in the ESR1 gene only. This test may detect single exon deletions but does not detect multi-exon deletions, duplications, or genomic copy number variants.
Rare alterations (ie, polymorphisms) may be present that could lead to false-negative or false-positive results.
Test results should be interpreted in the context of clinical, tumor sampling, histopathological, and other laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for discussion. Misinterpretation of results may occur if the information provided is inaccurate and/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 polymerase chain reaction failure.
Supportive Data
Performance Characteristics:
The limit of detection for calling a somatic variant (single nucleotide variants [SNV] and deletions-insertions [delins, formerly indels]) is 5% variant allele frequency and having at least 500x deduplicated coverage.
Verification studies demonstrated concordance between this test and the reference method for detection of SNV and delins is 99.7% (699/701) and 96.6% (226/234) of variants, respectively. Concordance for the detection of delins was 98.9% (186/188) in variants 1-10 base pairs (bp) in size, 95.8% (23/24) in variants 11-50 bp in size, and 88.9% (8/9) in variants 51-200 bp in size.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Arenedos M, Vicier C, Loi S, et al: Precision medicine for metastatic breast cancer-limitations and solutions. Nat Rev Clin Oncol. 2015 Dec;12(12):693-704. doi: 10.1038/nrclinonc.2015.123
2. Angus L, Beije N, Jager A, et al: ESR1 mutations: Moving towards guiding treatment decision-making in metastatic breast cancer patients. Cancer Treat Rev. 2017 Jan;52:33-40. doi: 10.1016/j.ctrv.2016.11.001
3. Gradishar WJ, Moran MS, Abraham J, et al: NCCN Guidelines Insights: Breast Cancer, version 4.2021. J Natl Compr Canc Netw. 2021 May;19(5):484-493. doi: 10.6004/jnccn.2021.0023
4. Toy W, Shen Y, Won H, et al: ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet. 2013 Dec;45(12):1439-1445. doi: 10.1038/ng.2822
5. Robinson DR, Wu YM, Vats P, et al: Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet. 2013 Dec;45(12):1446-1451. doi: 10.1038/ng.2823
6. Toy W, Weir H, Razavi P, et al: Activating ESR1 mutations differentially affect the efficacy of ER antagonists. Cancer Discov. 2017 Mar;7(3):277-287. doi: 10.1158/2159-8290.CD-15-1523
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Special Instructions
Library of PDFs including pertinent information and forms related to the test
- Tissue Requirements for Solid Tumor Next-Generation Sequencing
- Targeted Genes and Methodology Details for ESR1 Mutation Analysis
Method Description
Describes how the test is performed and provides a method-specific reference
Method Description
Describes how the test is performed and provides a method-specific reference
Next-generation sequencing is performed to evaluate the presence of a mutation in all coding regions of the ESR1 gene. See Targeted Genes and Methodology Details for ESR1 Mutation Analysis for details regarding the targeted gene regions evaluated by this test.(Unpublished Mayo method)
A pathology review and macro dissection to enrich for tumor cells are performed prior to slide scraping
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
No
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
12 to 20 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
FFPE tissue block: Unused portions of blocks will be returned within 10-14 days after testing is complete; FFPE tissue/cytology slides: Unused tissue slides are stored indefinitely; Digital images are obtained and stored for all slides used in testing.
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Rochester
Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
88381 - Microdissection, manual
81479
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| ESR1T | ESR1 Mutations Analysis, Tumor | In Process |
| Result Id | Test Result Name | Result LOINC Value Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure. |
|---|---|---|
| 617929 | Result | 82939-0 |
| 617930 | Interpretation | 69047-9 |
| 617931 | Additional Info | 48767-8 |
| 617932 | Specimen | 31208-2 |
| 617933 | Tissue ID | 80398-1 |
| 617934 | Method | 85069-3 |
| 617935 | Disclaimer | 62364-5 |
| 617936 | Released By | 18771-6 |
Test Setup Resources
Setup Files Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Excel | Pdf
Sample Reports Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
SI Sample Reports International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
Test Update Resources
| Change Type | Effective Date |
|---|---|
| New Test | 2022-10-24 |