NTRK3 and ETV6 translocation, Tissue

Cancer

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Detects gene translocations.

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NTRK3 and ETV6 Translocation Tissue Test

Why is it done?
- Detects the presence of ETV6-NTRK3 translocation, a chromosomal abnormality where portions of the ETV6 gene on chromosome 12 fuse with the NTRK3 gene on chromosome 15
- Used to diagnose infantile fibrosarcoma (IFS), congenital/childhood mesenchymal tumors, and other ETV6-NTRK3 fusion-associated neoplasms
- Aids in differential diagnosis of soft tissue sarcomas, particularly to distinguish infantile fibrosarcoma from other pediatric sarcomas
- Helps predict prognosis and treatment response, as fusion-positive tumors may have better outcomes and respond to TRK inhibitor therapy
- Performed on tissue samples (biopsy or surgical specimens) from suspected tumors, typically in infants and young children presenting with soft tissue masses
Normal Range
- Negative result: No ETV6-NTRK3 translocation detected in the tissue sample
- Positive result: ETV6-NTRK3 fusion gene is present and detected via fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), or next-generation sequencing (NGS)
- Equivocal/Borderline: May indicate need for additional testing or confirmation with alternative methodologies
- Inadequate sample: Insufficient tissue or poor specimen quality precluding definitive interpretation
- Normal result indicates absence of this specific chromosomal translocation; abnormal (positive) result confirms ETV6-NTRK3 fusion-positive neoplasm
Interpretation
- Positive Result: Confirms diagnosis of ETV6-NTRK3 fusion-positive tumor, most commonly infantile fibrosarcoma; indicates activation of the TRK signaling pathway; associated with relatively favorable prognosis in pediatric patients; qualifies patient for targeted TRK inhibitor therapy (e.g., larotrectinib, entrectinib)
- Negative Result: Excludes ETV6-NTRK3 fusion-positive neoplasm; suggests alternative diagnosis such as adult-type fibrosarcoma, other sarcoma subtypes (embryonal rhabdomyosarcoma, synovial sarcoma, etc.), or benign soft tissue lesion; requires correlation with histopathology and potential additional molecular testing
- Clinical Significance of Result Patterns: Result must be interpreted within clinical context including patient age, tumor location, histologic features, and imaging findings; presence of translocation is pathognomonic for infantile fibrosarcoma when combined with typical morphology
- Factors Affecting Interpretation: Tissue quality and adequacy; formalin-fixed paraffin-embedded (FFPE) vs. fresh tissue; tumor cellularity and heterogeneity; presence of necrosis or acellular areas; patient age; methodology used (FISH has ~90-95% sensitivity and specificity; RT-PCR and NGS offer complementary advantages)
Associated Organs
- Primary Organ Systems Involved: Musculoskeletal and soft tissue system; affects skeletal muscle, subcutaneous tissue, fascia, and surrounding connective tissues
- Diseases Associated with Abnormal Results: Infantile fibrosarcoma (most common); congenital fibrosarcoma; cellular congenital mesoblastic nephroma (variant with ETV6-NTRK3); secretory breast carcinoma (rare); mammary analog secretory carcinoma; other ETV6-NTRK3 fusion-associated tumors
- Common Tumor Locations: Lower extremities (most frequent); upper extremities; head and neck region; trunk; typically in superficial soft tissues, though can occur in deep compartments
- Potential Complications of Abnormal Results: Local tumor growth and mass effect; potential infiltration into adjacent structures; metabolic complications from active malignancy; need for aggressive surgical or medical intervention; psychosocial impact on pediatric patients and families; treatment-related toxicities from chemotherapy or targeted therapy
- Clinical Significance: Positive ETV6-NTRK3 fusion generally indicates lower-grade behavior compared to other pediatric sarcomas; suggests potential responsiveness to kinase inhibitors; facilitates personalized treatment planning and prognostication
Follow-up Tests
- Confirmatory/Complementary Molecular Testing: RT-PCR or reverse transcription nested PCR to confirm fusion transcript; next-generation sequencing (NGS) for comprehensive fusion characterization and identification of additional mutations; digital PCR for improved sensitivity and quantification
- Histopathologic Review: Detailed morphologic examination to confirm diagnosis and exclude malignant mimics; immunohistochemical staining for TRK (neurotrophic tyrosine kinase receptor type 3) may support diagnosis
- Staging and Assessment: Magnetic resonance imaging (MRI) of primary tumor site for local staging; computed tomography (CT) chest for metastatic disease assessment; positron emission tomography (PET-CT) in selected cases; bone scan if osseous involvement suspected
- Baseline Laboratory Studies: Complete blood count (CBC); comprehensive metabolic panel (CMP); lactate dehydrogenase (LDH) level; coagulation studies if surgery planned
- Treatment Planning and Monitoring: Response assessment imaging during and after therapy (MRI/CT); echocardiography baseline and during cardiotoxic therapy; ophthalmology evaluation if targeted therapy considered; regular clinical follow-up imaging every 3-6 months during treatment, then intervals based on response
- Long-term Surveillance: Periodic imaging for recurrence detection (typically annually for 5 years, then as clinically indicated); physical examination at each clinic visit; assessment for late effects of therapy; monitoring for secondary malignancies in long-term survivors
Fasting Required?
- No fasting required
- This is a tissue-based test performed on biopsy or surgical specimens; fasting status does not apply to tissue molecular testing
- Patient Preparation for Tissue Biopsy/Surgery: Fasting may be required if biopsy or surgery performed under general anesthesia (typically 6-8 hours before procedure); follow specific anesthesia guidelines provided by surgical team
- Specimen Handling Requirements: Fresh tissue samples preferred for RT-PCR and NGS; formalin-fixed paraffin-embedded tissue acceptable for FISH; proper labeling and chain of custody maintained; expedited transport to laboratory may be required
- Medications: No medication restrictions specific to the molecular test itself; anticoagulants may need adjustment if biopsy/surgery planned; discuss all medications with procedural team
- Additional Instructions: Inform laboratory of clinical indication and suspected diagnosis; communicate special requirements for sample processing; ensure adequate tissue sampling at time of procedure for molecular analysis; avoid contamination and maintain sterility as per institutional protocols

How our test process works!