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PIK3CA Mutation CDx Resource Library and FAQs

 

CAP Today Webinar

Picking up PIK3CA: The importance of detecting a PIK3CA mutation in patients with HR+/HER2- advanced or metastatic breast cancer


Please see below for full Important Safety Information and click here for full Prescribing Information for PIQRAY® (alpelisib) tablets.

Testing for PIK3CA mutations

Learn key information about PIK3CA mutations, including their prevalence, implications, and how to test for the mutation.


Please see below for full Important Safety Information and click here for full Prescribing Information for PIQRAY® (alpelisib) tablets.

 

Downloadable resources

 

PIK3CA Mutation CDx Testing Visual Aid

PIK3CA Mutation CDx Testing Visual Aid

Download the PIK3CA Mutation CDx Testing Visual Aid for more information about when, why, and how to test for PIK3CA mutations.

  Download visual aid

 

PIK3CA Mutation CDx Testing Program: Plasma and Tissue Flashcard

PIK3CA Mutation CDx Testing Program: Plasma and Tissue Flashcard

Download the PIK3CA Mutation CDx Testing Program Flashcard for more information on plasma and tissue testing.

  Download plasma and tissue flashcard

 

PIK3CA Mutation CDx Testing Program: Online Ordering Form

PIK3CA Mutation CDx Testing Program: Online Ordering Flashcard

Download the PIK3CA Mutation CDx Testing Program: Online Ordering Flashcard for instructions on online ordering for the QIAGEN therascreen® PIK3CA RGQ PCR test.

  Download online ordering flashcard

 

FAQs

Currently, there are two FDA-approved PIK3CA mutation CDx tests available to eligible patients1,2:

  1. QIAGEN therascreen® PIK3CA RGQ PCR Kit is a real-time qualitative PCR test for the detection of 11 mutations in the PIK3CA gene

  2. Foundation Medicine FoundationOne®CDx is a comprehensive genetic profiling (CGP) next-generation sequencing multi-gene panel, which includes PIK3CA

Both CDx tests are intended for use to identify PIK3CA mutations in HR+/HER2- advanced breast cancer patients who may be eligible for treatment with alpelisib for its FDA-approved indication.

 

Option 1: Order the QIAGEN therascreen® PIK3CA RGQ PCR Kit through the PIK3CA Mutation CDx Testing Program being implemented through NeoGenomics. The PIK3CA Mutation CDx Testing Program is designed to provide access to PIK3CA mutation testing for appropriate HR+/HER2- advanced breast cancer patients.

Appropriate patients may receive one free plasma and/or tumor tissue test using the QIAGEN therascreen® PIK3CA RGQ PCR test for the purpose of determining whether or not the patient has a PIK3CA mutation and is eligible for alpelisib for an FDA-approved indication, without regard to purchase of any prescribed drug or any other product.

If the patient tests negative for PIK3CA mutation using plasma, eligible patients may also receive one free PIK3CA reflex tissue test. No patient, health care program, or beneficiary shall be billed for this mutation test. If no mutation is detected in a plasma specimen, test tumor tissue. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

For testing on tissue, complete the PIK3CA Mutation CDx Test Request Form and include a copy of the patient's pathology report and ordering and treating physician information. If requesting testing on a tissue specimen that NeoGenomics must retrieve from the pathology site on your behalf, fax the completed requisition form along with the pathology report to 1-239-690-4237. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

For plasma testing, please contact NeoGenomics Client Services at 1-866-776-5907 to review specimen collection, preparation, and shipping requirements.

Option 2: Use an alternate lab for testing with QIAGEN's therascreen® PIK3CA RGQ PCR Kit. NeoGenomics is the only lab currently performing testing under the Pl K3CA Mutation CDx Testing Program, and alternate labs will process the test outside of the PIK3CA Mutation CDx Testing Program. For more information, visit the QIAGEN Lab Finder or contact QIAGEN Customer Service at 1-800-362-7737.

Option 3: Verify QIAGEN's therascreen® PIK3CA RGQ PCR Kit in your lab. Order the kit and verify the PIK3CA Mutation CDx test with your lab with QIAGEN. If you have questions, please contact QIAGEN Customer Service at 1-800-362-7737.

Option 4: To order the Foundation Medicine FoundationOne®CDx online you can create an account at www.foundationmedicine.com/signup. For more information about ordering FoundationOne®CDx, contact Foundation Medicine Client Services at 1-888-988-3639.


QIAGEN – Tissue and plasma testing

  • NeoGenomics Laboratories is implementing the PIK3CA Mutation CDx Testing Program sponsored by Novartis using the QIAGEN therascreen® PIK3CA RGQ PCR Kit. The PIK3CA Mutation CDx Testing Program is designed to provide access to PIK3CA mutation testing for appropriate HR+/HER2- advanced breast cancer patients.

    Appropriate patients may receive one free plasma and/or tumor tissue test using the QIAGEN therascreen® PIK3CA RGQ PCR test for the purpose of determining whether or not the patient has a PIK3CA mutation and is eligible for alpelisib for an FDA-approved indication, without regard to purchase of any prescribed drug or any other product.

    If the patient tests negative for PIK3CA mutation using plasma, eligible patients may also receive one free PIK3CA reflex tissue test. No patient, health care program, or beneficiary shall be billed for this mutation test. If no mutation is detected in a plasma specimen, test tumor tissue. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

     

  • The PIK3CA Mutation CDx Testing Program being implemented through NeoGenomics is designed to provide access to PIK3CA mutation testing for appropriate HR+/HER2- advanced breast cancer patients.

    Appropriate patients may receive one free plasma and/or tumor tissue test using the QIAGEN therascreen® PIK3CA RGQ PCR test for the purpose of determining whether or not the patient has a PIK3CA mutation and is eligible for alpelisib for an FDA-approved indication, without regard to purchase of any prescribed drug or any other product.

    If the patient tests negative for PIK3CA mutation using plasma, eligible patients may also receive one free PIK3CA reflex tissue test. No patient, health care program, or beneficiary shall be billed for these mutation tests. If no mutation is detected in a plasma specimen, test tumor tissue.

    For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

  • PIK3CA mutation CDx testing includes 11 different mutations in the PIK3CA gene as part of the FDA-approved indication. These include: C420R in Exon 7; E542K, E545K/A/D/G and Q546R/E in Exon 9; and H1047R/L/Y in Exon 20.
  • Yes, the PIK3CA Mutation CDx Testing Program through NeoGenomics includes both tissue and plasma specimens. The PIK3CA Mutation CDx Testing Program is designed to provide access to PIK3CA mutation testing for appropriate HR+/HER2- advanced breast cancer patients.

    Appropriate patients may receive one free plasma and/or tumor tissue test using the QIAGEN therascreen® PIK3CA RGQ PCR test for the purpose of determining whether or not the patient has a PIK3CA mutation and is eligible for alpelisib for an FDA-approved indication, without regard to purchase of any prescribed drug or any other product.

    If the patient tests negative for PIK3CA mutation using plasma, eligible patients may also receive one free PIK3CA reflex tissue test. No patient, health care program, or beneficiary shall be billed for this mutation test. If no mutation is detected in a plasma specimen, test tumor tissue. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

  • For the QIAGEN therascreen® PIK3CA RGQ PCR Kit, primary breast tumor tissue or metastatic tissue specimens may be used. Fresh biopsies or archival specimens may be used.

    Plasma derived from peripheral whole blood may also be used for testing. If testing on plasma, whole blood collected in K2EDTA blood collection tubes must be processed to separate plasma within 4 hours of blood collection. Failure to do so may result in test failure. Plasma must be stored at -80 °C until it is ready for shipment using Nanocool shipper, which will be provided by NeoGenomics. If you are ordering through the PIK3CA CDx Mutation Testing Program, please contact NeoGenomics Client Services at 1-866-776-5907. If not, please consult with the lab you are ordering the plasma test from.

  • The QIAGEN therascreen® PIK3CA RGQ PCR Kit runs on the QIAGEN Rotor-Gene Q MDx (US) platform. If you have technical questions, please contact QIAGEN Customer Service at 1-800-362-7737.

  • For the QIAGEN therascreen® PIK3CA RGQ PCR Kit, QIAGEN expects that decalcified bone metastasis tissue will not be able to be tested using the PIK3CA Mutation CDx test, as it will produce an invalid result. For further questions, please contact QIAGEN Customer Service at 1-800-362-7737, or contact the lab that you are ordering from.

  • If ordering through NeoGenomics, contact NeoGenomics Client Services at 1-866-776-5907 to review specimen collection and preparation requirements and to obtain the specimen shipment kit. If not ordering through NeoGenomics, please contact laboratory providing testing to obtain specimen collection and preparation requirements and to obtain the specimen shipment kit.

  • Option 1: Order the QIAGEN therascreen® PIK3CA RGQ PCR Kit through the PIK3CA Mutation CDx Testing Program being implemented through NeoGenomics. The PIK3CA Mutation CDx Testing Program is designed to provide access to PIK3CA mutation testing for appropriate HR+/HER2- advanced breast cancer patients.

    Appropriate patients may receive one free plasma and/or tumor tissue test using the QIAGEN therascreen® PIK3CA RGQ PCR test for the purpose of determining whether or not the patient has a PIK3CA mutation and is eligible for alpelisib for an FDA-approved indication, without regard to purchase of any prescribed drug or any other product.

    If the patient tests negative for PIK3CA mutation using plasma, eligible patients may also receive one free PIK3CA reflex tissue test. No patient, health care program, or beneficiary shall be billed for this mutation test. If no mutation is detected in a plasma specimen, test tumor tissue. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

    For testing on tissue, complete the PIK3CA Mutation CDx Test Request Form and include a copy of the patient’s pathology report and ordering and treating physician information. If requesting testing on a tissue specimen that NeoGenomics must retrieve from the pathology site on your behalf, fax the completed requisition form along with the pathology report to 1-239-690-4237. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

    For plasma testing, please contact NeoGenomics Client Services at 1-866-776-5907 to review specimen collection, preparation, and shipping requirements.

    Option 2: Use an alternate lab for testing with QIAGEN's therascreen® PIK3CA RGQ PCR Kit. NeoGenomics is the only lab currently performing testing under the PIK3CA Mutation CDx Testing Program, and alternate labs will process the test outside of the PlK3CA Mutation CDx Testing Program. For more information, visit the QIAGEN Lab Finder or contact QIAGEN Customer Service at 1-800-362-7737.

    Option 3: Verify QIAGEN's therascreen® PIK3CA RGQ PCR Kit in your lab. Order the kit and verify the PIK3CA Mutation CDx test with your lab with QIAGEN. If you have questions, please contact QIAGEN Customer Service at 1-800-362-7737.

  • NeoGenomics generally expects to provide results within 1 week of specimen receipt by NeoGenomics Laboratories in Carlsbad, CA. For more information, please call NeoGenomics Client Services at 1-866-776-5907.

  • For more information about specimen requirements, please inquire with the lab you are ordering QIAGEN's therascreen® PIK3CA RGQ PCR Kit from.
  • The PIK3CA Mutation CDx Testing Program implemented through NeoGenomics is designed to provide access to PIK3CA mutation testing for appropriate HR+/HER2- advanced breast cancer patients.

    Appropriate patients may receive one free plasma and/or tumor tissue test using the QIAGEN therascreen® PIK3CA RGQ PCR test for the purpose of determining whether or not the patient has a PIK3CA mutation and is eligible for alpelisib for an FDA-approved indication, without regard to purchase of any prescribed drug or any other product.

    If the patient tests negative for PIK3CA mutation using plasma, eligible patients may also receive one free PIK3CA reflex tissue test. No patient, health care program, or beneficiary shall be billed for this mutation test. If no mutation is detected in a plasma specimen, test tumor tissue. For more information, please contact NeoGenomics Client Services at 1-866-776-5907.

Foundation Medicine – Tissue testing

  • The Foundation Medicine FoundationOne®CDx assay is a single-site assay performed at Foundation Medicine, Inc. For more information, please contact Foundation Medicine Client Services at 1-888-988-3639.

  • PIK3CA mutation CDx testing includes 11 different mutations in the PIK3CA gene as part of the FDA-approved indication. These include: C420R in Exon 7; E542K, E545K/A/D/G and Q546R/E in Exon 9; and H1047R/L/Y in Exon 20.

  • The Foundation Medicine FoundationOne®CDx will test tumor tissue specimens. For more information, please contact Foundation Medicine Client Services at 1-888-988-3639.

  • For the Foundation Medicine FoundationOne®CDx, tumor tissue can be used. Primary breast tumor tissue or metastatic tissue specimens may be used for testing and you may test archival tissue. For more information, please contact Foundation Medicine Client Services at 1-888-988-3639.

  • When using the Foundation Medicine FoundationOne®CDx, Foundation Medicine recommends that you do not decalcify the sample. For further questions, please contact Foundation Medicine Client Services at 1-888-988-3639.
  • To obtain the specimen shipment kit for the FoundationOne®CDx, please contact Foundation Medicine Client Services at 1-888-988-3639.
  • For more information about specimen requirements for the Foundation Medicine FoundationOne®CDx, please contact Foundation Medicine Client Services at 1-888-988-3639.
  • To order the Foundation Medicine FoundationOne®CDx online you can create an account at www.foundationmedicine.com/signup. For more information about ordering FoundationOne®CDx, contact Foundation Medicine Client Services at 1-888-988-3639.
  • Foundation Medicine generally expects to provide results in less than 2 weeks from specimen receipt. For more information, call Foundation Medicine Client Services at 1-888-988-3639.
  • To find out the cost of the Foundation Medicine FoundationOne®CDx, please contact Foundation Medicine Client Services at 1-888-988-3639.

  • Financial assistance may be available for the FoundationOne®CDx based on your patient’s financial situation. Patients who are uninsured or cannot afford the applicable out-of-pocket cost can contact Foundation Medicine Client Services with regard to eligibility. To apply for financial assistance or download a paper application, please visit: https://aid.foundationmedicine.com/.

  • To find out if the Foundation Medicine FoundationOne®CDx will be covered by the patient’s insurance, please contact Foundation Medicine Client Services at 1-888-988-3639 or the appropriate insurance provider.

Indication

PIQRAY® (alpelisib) tablets is indicated in combination with fulvestrant for the treatment of postmenopausal women, and men, with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, PIK3CA-mutated, advanced or metastatic breast cancer as detected by an FDA-approved test following progression on or after an endocrine-based regimen.

Important Safety Information
PIQRAY is contraindicated in patients with severe hypersensitivity to it or any of its components.

Severe Hypersensitivity: Severe hypersensitivity reactions, including anaphylaxis and anaphylactic shock, were reported in patients treated with PIQRAY. Severe hypersensitivity reactions were manifested by symptoms including, but not limited to, dyspnea, flushing, rash, fever, or tachycardia. The incidence of grade 3 and 4 hypersensitivity reactions was 0.7%. Advise patients of the signs and symptoms of severe hypersensitivity reactions. Permanently discontinue PIQRAY in the event of severe hypersensitivity.

Severe Cutaneous Reactions: Severe cutaneous reactions, including Stevens-Johnson syndrome (SJS) and erythema multiforme (EM) were reported in patients treated with PIQRAY. SJS and EM were reported in 0.4% and 1.1% of patients, respectively. Do not initiate PIQRAY treatment in patients with a history of SJS, EM, or toxic epidermal necrolysis (TEN). If signs or symptoms of severe cutaneous reactions occur, interrupt PIQRAY until the etiology of the reaction has been determined. Consultation with a dermatologist is recommended.

If SJS, TEN, or EM is confirmed, permanently discontinue PIQRAY. Do not reintroduce PIQRAY in patients who have experienced previous severe cutaneous reactions during PIQRAY treatment. If it is not confirmed, PIQRAY may require dose modifications, topical corticosteroids, or oral antihistamine treatment.

Advise patients of the signs and symptoms of severe cutaneous reactions (eg, a prodrome of fever, flu-like symptoms, mucosal lesions, or progressive skin rash).

Hyperglycemia: Severe hyperglycemia, including ketoacidosis, has been reported in patients treated with PIQRAY. Hyperglycemia was reported in 65% of patients treated with PIQRAY. Grade 3 (FPG >250-500 mg/dL) and Grade 4 (FPG >500 mg/dL) hyperglycemia was reported in 33% and 3.9% of patients, respectively. Ketoacidosis was reported in 0.7% of patients (n=2) treated with PIQRAY.

Before initiating treatment with PIQRAY, test FPG, HbA1c, and optimize blood glucose. After initiating treatment with PIQRAY, monitor blood glucose and/or FPG at least once every week for the first 2 weeks, then at least once every 4 weeks, and as clinically indicated. Monitor HbA1c every 3 months and as clinically indicated. If a patient experiences hyperglycemia after initiating treatment with PIQRAY, monitor blood glucose and/or FPG as clinically indicated, and at least twice weekly until blood glucose or FPG decreases to normal levels. During treatment with antidiabetic medication, continue monitoring blood glucose or FPG at least once a week for 8 weeks, followed by once every 2 weeks and as clinically indicated. Consider consultation with a health care practitioner with expertise in the treatment of hyperglycemia and counsel patients on lifestyle changes.

The safety of PIQRAY in patients with type 1 and uncontrolled type 2 diabetes has not been established as these patients were excluded from the SOLAR-1 trial. Patients with a medical history of type 2 diabetes were included. Patients with a history of diabetes mellitus may require intensified diabetic treatment. Closely monitor patients with diabetes.

Based on the severity of the hyperglycemia, PIQRAY may require dose interruption, reduction, or discontinuation. Advise patients of the signs and symptoms of hyperglycemia (eg, excessive thirst, urinating more often than usual or higher amount of urine than usual, or increased appetite with weight loss).

Pneumonitis: Severe pneumonitis, including acute interstitial pneumonitis and interstitial lung disease, has been reported in patients treated with PIQRAY. Pneumonitis was reported in 1.8% of patients treated with PIQRAY.

In patients who have new or worsening respiratory symptoms or are suspected to have developed pneumonitis, interrupt PIQRAY immediately and evaluate the patient for pneumonitis. Consider a diagnosis of non-infectious pneumonitis in patients presenting with non-specific respiratory signs and symptoms such as hypoxia, cough, dyspnea, or interstitial infiltrates on radiologic exams and in whom infectious, neoplastic, and other causes have been excluded by means of appropriate investigations.

Permanently discontinue PIQRAY in all patients with confirmed pneumonitis. Advise patients to immediately report new or worsening respiratory symptoms.

Diarrhea: Severe diarrhea, including dehydration and acute kidney injury, occurred in patients treated with PIQRAY. Most patients (58%) experienced diarrhea during treatment with PIQRAY. Grade 3 diarrhea occurred in 7% (n=19) of patients. Based on the severity of the diarrhea, PIQRAY may require dose interruption, reduction, or discontinuation. Advise patients to start antidiarrheal treatment, increase oral fluids, and notify their health care provider if diarrhea occurs while taking PIQRAY.

Embryo-Fetal Toxicity: Based on findings in animals and its mechanism of action, PIQRAY can cause fetal harm when administered to a pregnant woman. Advise pregnant women and females of reproductive potential of the potential risk to a fetus. Advise females of reproductive potential to use effective contraception during treatment with PIQRAY and for 1 week after the last dose. Advise male patients with female partners of reproductive potential to use condoms and effective contraception during treatment with PIQRAY and for 1 week after the last dose. Refer to the Full Prescribing Information of fulvestrant for pregnancy and contraception information.

The most common adverse reactions (all grades, incidence ≥20%) were diarrhea (58%), rash (52%), nausea (45%), fatigue (42%), decreased appetite (36%), stomatitis (30%), vomiting (27%), weight decreased (27%), and alopecia (20%). The most common grade 3/4 adverse reactions (incidence ≥2%) were rash (20%), diarrhea (7%), fatigue (5%), weight decreased (3.9%), nausea (2.5%), stomatitis (2.5%), and mucosal inflammation (2.1%).

The most common laboratory abnormalities (all grades, incidence ≥20%) were glucose increased (79%), creatinine increased (67%), lymphocyte count decreased (52%), gamma glutamyl transferase (GGT) increased (52%), alanine aminotransferase (ALT) increased (44%), hemoglobin decreased (42%), lipase increased (42%), calcium decreased (27%), glucose decreased (26%), and activated partial thromboplastin time (aPTT) prolonged (21%). The most common grade 3/4 laboratory abnormalities (incidence ≥5%) were glucose increased (39%), GGT increased (11%), lymphocyte count decreased (8%), and lipase increased (7%), and potassium decreased (6%).

Please click here for full Prescribing Information.

therascreen is a registered trademark of QIAGEN Group.

Foundation Medicine and FoundationOne CDx are registered trademarks of Foundation Medicine, Inc.

References: 1. therascreen® PIK3CA RGQ PCR Kit Instructions for Use. Germantown, MD: QIAGEN; May 2019. 2. FoundationOne®CDx Summary of Safety and Effectiveness [draft] P170019/S006.

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