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PML/RARA - t(15;17) Qualitative by PCR*

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Details

Detects fusion transcript.

₹6,068₹8,669

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PML/RARA - t(15;17) Qualitative by PCR

  • Why is it done?
    • Detection of Acute Promyelocytic Leukemia (APL): This test detects the pathognomonic PML/RARA fusion gene that results from a balanced translocation t(15;17), which is the hallmark cytogenetic abnormality of acute promyelocytic leukemia (APL), also known as AML-M3.
    • Diagnostic Confirmation: Confirms APL diagnosis in patients presenting with acute leukemia with abnormal coagulation profile, thrombocytopenia, and characteristic morphologic findings of abnormal promyelocytes.
    • Monitoring Disease Response: Tracks PML/RARA transcripts during and after treatment with all-trans retinoic acid (ATRA) and arsenic trioxide to monitor response to therapy and detect minimal residual disease (MRD).
    • Relapse Detection: Detects recurrence or relapse of APL through re-emergence of PML/RARA transcripts in patients in remission or during follow-up surveillance.
    • Typical Timing: Performed at initial diagnosis of suspected APL, after achieving complete remission, during consolidation and maintenance therapy, and at periodic intervals during long-term follow-up.
  • Normal Range
    • Negative Result (Normal): PML/RARA fusion gene is NOT detected via PCR. This indicates absence of the t(15;17) translocation and rules out APL in the classic sense. Expressed as 'Negative' or 'Not Detected'.
    • Positive Result (Abnormal): PML/RARA fusion gene IS detected via PCR. This confirms the presence of t(15;17) translocation, diagnostic of APL. May be expressed as 'Positive', 'Detected', or with quantitative copy number (when using quantitative real-time PCR).
    • Borderline/Equivocal: Rarely reported; may indicate very low-level transcript burden requiring repeat testing or alternative confirmation methods.
    • Units of Measurement: Qualitative (Positive/Negative). When using quantitative real-time PCR, may be expressed as copies/µL or as a ratio to control gene (BCR/ABL normalized).
    • Clinical Interpretation: Negative results exclude APL as a diagnosis; positive results definitively establish APL diagnosis and guide targeted treatment decisions with ATRA and arsenic trioxide.
  • Interpretation
    • Positive PML/RARA at Diagnosis: Confirms APL diagnosis. Patient has acute promyelocytic leukemia with the t(15;17) translocation. This is a medical emergency requiring immediate initiation of ATRA and arsenic trioxide therapy due to high risk of life-threatening coagulopathy and bleeding.
    • Negative PML/RARA at Diagnosis: Rules out classic APL with t(15;17). Patient likely has non-APL acute myeloid leukemia (AML) or variant APL. Alternative molecular testing may be needed to identify other AML-associated translocations (t(8;21), inv(16), KMT2A rearrangements, etc.).
    • Positive During Remission: Indicates presence of minimal residual disease (MRD). Early detection may allow for treatment intensification or intervention before clinical relapse occurs.
    • Negative During Remission: Indicates achievement of molecular remission with no detectable PML/RARA transcripts. Represents favorable prognostic indicator with reduced relapse risk.
    • Factors Affecting Results: Specimen quality, processing time, blast cell percentage, PML/RARA transcript variant (short vs. long isoforms), PCR sensitivity threshold, and time interval since therapeutic intervention all influence test results and interpretation.
    • Variant Transcripts: Two main PML/RARA transcript variants exist (short and long forms) and occasionally rare variants. PCR primer design ensures detection of major variants; interpretation remains the same regardless of variant type.
  • Associated Organs
    • Primary Organ System - Hematopoietic System: The t(15;17) translocation originates in bone marrow hematopoietic stem cells, causing malignant transformation of myeloid progenitor cells that differentiate into abnormal promyelocytes.
    • Blood/Peripheral Circulation: Leukemic promyelocytes circulate in the bloodstream, causing severe leukocytosis and characteristic coagulopathy with disseminated intravascular coagulation (DIC).
    • Bone Marrow: Hypercellular with abnormal accumulation of immature and abnormal promyelocytes, causing replacement of normal hematopoietic elements.
    • Associated Diseases and Conditions: Acute Promyelocytic Leukemia (APL/AML-M3) - characterized by hypercoagulability, severe thrombocytopenia, leukopenia, anemia, and DIC with high hemorrhagic mortality if untreated.
    • Complications from Abnormal Results: Life-threatening hemorrhage (intracranial, gastrointestinal, pulmonary), sepsis from severe leukopenia, thrombotic events, acute renal failure from leukostasis, hepatosplenomegaly, CNS leukostasis, differentiation syndrome (during ATRA therapy), and treatment-related cardiotoxicity.
    • Multi-organ Impact: APL can affect multiple organ systems including lungs (respiratory failure, hemorrhage), kidneys (acute kidney injury), liver (hepatic dysfunction), heart (cardiotoxicity), brain (CNS involvement, hemorrhage), and gastrointestinal tract (hemorrhage).
  • Follow-up Tests
    • Quantitative Real-Time PCR (qPCR): Quantifies PML/RARA transcript levels to assess disease burden, monitor treatment response, and detect MRD with greater sensitivity. Recommended after achieving CR and during maintenance therapy.
    • Conventional Cytogenetics (Karyotype): Visual confirmation of t(15;17) translocation and detection of additional cytogenetic abnormalities that may influence prognosis and treatment planning.
    • Fluorescence In Situ Hybridization (FISH): Provides rapid detection of PML/RARA translocation with probe-based methodology; faster than conventional cytogenetics, especially useful for urgent diagnostic confirmation.
    • Complete Blood Count (CBC) with Differential: Assesses hemoglobin, WBC count, platelet count, and blast percentage. Essential for monitoring cytopenias during therapy and assessing hematologic response.
    • Coagulation Studies (PT, PTT, Fibrinogen, D-dimer): Essential for assessing DIC and managing hemorrhagic risk. Repeated frequently during initial treatment phase given high incidence of coagulopathy in APL.
    • Morphologic Review (Bone Marrow or Peripheral Blood Smear): Microscopically confirms abnormal promyelocytes with Auer rods and assesses response to therapy based on blast reduction.
    • Flow Cytometry: Immunophenotypic analysis assists in confirming APL diagnosis and detecting MRD during remission phase.
    • Metabolic Panel and Liver Function Tests: Monitor organ function during treatment, assess for complications (DIC-related renal failure, hepatic involvement), and evaluate baseline function before ATRA/arsenic therapy.
    • Monitoring Frequency: At diagnosis and after achieving complete remission (end of induction); quarterly during consolidation; at 6-month intervals during maintenance therapy; then annually for 5 years; more frequently if clinical suspicion of relapse.
    • Complementary Testing: FLT3-ITD and FLT3-TKD mutation status for prognostic stratification; TP53 mutation testing in some protocols; other AML-related mutations if initial PML/RARA testing is negative.
  • Fasting Required?
    • Fasting Requirement: NO - Fasting is NOT required for this test.
    • Specimen Type and Collection: Peripheral blood collected in EDTA (lavender-top) tubes or bone marrow aspirate in EDTA tubes. No special preparation needed from patient perspective.
    • Timing Considerations: Test can be performed at any time; preferred to be done promptly after specimen collection to maintain RNA integrity (within 24-48 hours of collection).
    • Medications - No Restrictions: No medications need to be withheld prior to blood collection. If patient is on ATRA or arsenic therapy, continue as prescribed; test results will reflect transcripts present despite treatment.
    • Patient Preparation Instructions: No specific preparation required. Patient should have adequate blood draw capability. If bone marrow aspirate is needed, patient will receive sedation and local anesthesia per institutional protocols. Standard phlebotomy precautions apply.
    • Specimen Handling Instructions: Refrigerate specimen immediately (2-8°C) to prevent RNA degradation. Do not freeze unless test will be significantly delayed. Transport to laboratory promptly. Some laboratories may accept frozen samples with documented proper handling protocols.
    • Contraindications/Special Considerations: None relative to fasting or general preparation. For bone marrow aspirate, assess bleeding risk and platelet count. In unstable patients, peripheral blood may be used instead of bone marrow. Recent transfusions do not affect test result.

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