Test Catalog

Test Id : PIK3T

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PIK3CA Mutation Analysis, Tumor

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Overview

Test Catalog

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

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

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.

Method Name
A short description of the method used to perform the test

Polymerase Chain Reaction (PCR)

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

PIK3CA Mutation Analysis, Tumor

Aliases
Lists additional common names for a test, as an aid in searching

PIK3CA

PIK3CA mutation

Breast cancer

Alpelisib

Kinase inhibitor therapy

PIQRAY

Oncology

Tumor testing

C420R

E542K

E545A

E545D

E545G

E545K

Q546E

H1047L

H1047R

H1047Y

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

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

This assay requires at least 20% tumor nuclei.

The amount of tissue needed is dependent on a variety of preanalytical factors (eg, cellularity, ischemic time, fixation).

The FFPE input required is equivalent to a 4 to 5 micron slide thickness with a total tumor surface area of 100 mm(2). This can be created by combining material from multiple slides from one tissue block.

 

Preferred:

Specimen Type: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.

 

Acceptable:

Specimen Type: Tissue slide

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.

Forms

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

Specimens that have been decalcified (all methods)
 Specimens that have not been formalin-fixed, paraffin-embedded 		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 Type Temperature Time Special Container
Varies Ambient (preferred)
Refrigerated

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

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

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

More than 70% of breast cancers are hormone receptor (HR) positive and human epidermal growth factor receptor 2 (HER2) negative (HR+/HER2-). Approximately 40% of patients with HR+/HER2- advanced breast cancer have activating mutations in the gene PIK3CA, inducing hyperactivation of the alpha isoform (p110alpha) of phosphatidylinositol 3-kinase, a key upstream component of the PI3K pathway. Mutations in PIK3CA are associated with tumor growth, resistance to endocrine therapy, and a poor overall prognosis.

 

Patients with HR+/HER2- advanced breast cancer identified to have a PIK3CA mutation may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

 

This test uses DNA extracted from tumors to evaluate for the presence of 10 clinically actionable PIK3CA mutations:

E542K (c.1624G>A)

E542K (c.1633G>A)

E545D (c.1635G>T)

E545G (c.1634A>G)

E545A (c.1634A>C)

H1047Y (c.3139C>T)

C420R (c.1285C>T)

Q546E (c.1636C>G)

H1047L (c.3140A>T)

H1047R (c.3140A>G)

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

The interpretation of molecular biomarker results 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

A negative (wildtype) result does not rule out the presence of a mutation that may be present but below the limits of detection of this assay. It also does not rule out the presence of other types of alterations in the PIK3CA gene outside those that the assay was designed to detect.

 

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

 

Not all tumors that have PIK3CA mutations will respond to targeted therapies.

 

Rare genetic alterations exist that could lead to false-negative or false-positive results.

 

Test results should be interpreted in 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 possible interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

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

1. Bachman K, Argani P, Samuels Y, et al: The PIK3CA gene is mutated with high frequency in human breast cancers. Cancer Biol Ther. 2004 Aug;3(8):772-775

2. Andre F, Ciruelos EM, Rubovszky G, et al: Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer. N Engl J Med. 2019 May 16;380(20):1929-1940

3. Andre F, Ciruelos EM, Juric D, et al: Alpelisib plus fulvestrant for PIK3CA-mutated, hormone receptor-positive, human epidermal growth factor receptor-2-negative advanced breast cancer: final overall survival results from SOLAR-1. Ann Oncol. 2021 Feb;32(2):208-217

Method Description
Describes how the test is performed and provides a method-specific reference

Microscopic examination is performed by a pathologist to identify areas of tumor for enrichment by macrodissection. Testing is performed on invasive tissue only. Other tissue components, such as ductal carcinoma in situ (DCIS), are excluded.

 

A polymerase-chain reaction (PCR)-based assay employing real-time PCR and allele-specific PCR technologies is used to test for 10 mutations within PIK3CA (C420R, E542K, E545A, E545D, E545G, E545K, Q546E, H1047L, H1047R, and H1047Y).(Package insert: therascreen PIK3CA RGQ PCR Kit. Qiagen; 05/2019)

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.

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.

8 to 12 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Unused portions of blocks will be returned. Unused slides: Indefinitely

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.

  • 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.

This test has been modified from the manufacturer's instructions. Its performance characteristics were 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.

81309

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
PIK3T PIK3CA Mutation Analysis, Tumor 60034-6
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.
616654 Result Summary 50397-9
616655 Result 82939-0
616656 Interpretation 69047-9
616657 Additional Information 48767-8
616658 Specimen 31208-2
616659 Source 31208-2
616660 Tissue ID 80398-1
616661 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.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

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.

SI Normal Reports | SI Abnormal Reports