SOFT TISSUE SARCOMA PANEL

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Molecular pathology panel.

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Soft Tissue Sarcoma Panel - Comprehensive Medical Test Guide

Section 1: Why is it done?
- Test Purpose: Identifies chromosomal translocations and genetic mutations characteristic of soft tissue sarcomas through molecular and cytogenetic analysis
- Primary Indications: Suspected soft tissue malignancy, histologically ambiguous tumors, confirmation of sarcoma diagnosis, prognosis determination, and treatment planning
- Common Tumor Types Evaluated: Ewing sarcoma, synovial sarcoma, alveolar rhabdomyosarcoma, clear cell sarcoma, desmoplastic small round cell tumor, myxoid liposarcoma, and other fusion-positive sarcomas
- Typical Timing: Performed upon histologic diagnosis or when malignancy is suspected; can be done at initial diagnosis or during recurrence/progression evaluation
- Clinical Utility: Aids in differential diagnosis, guides targeted therapy selection, provides prognostic information, and supports treatment decision-making
Section 2: Normal Range
- Normal Result: No pathogenic chromosomal translocations or fusion genes detected; no evidence of specific sarcoma-associated mutations
- Negative Result Interpretation: Suggests non-fusion sarcoma, benign lesion, or tumor type outside panel scope; does not exclude malignancy and requires correlation with histology and imaging
- Positive Result Interpretation: Detection of pathogenic fusion gene or translocation confirms specific sarcoma diagnosis and guides prognosis and treatment strategies
- Common Positive Findings:
- EWSR1-FLI1 (Ewing sarcoma), SS18-SSX (synovial sarcoma), FGFR1-LOC100288311 (myxoid liposarcoma), t(2;13) PAX3-FKHR (alveolar rhabdomyosarcoma), EWS-WT1 (desmoplastic small round cell tumor)
- Units of Measurement: Qualitative reporting (Positive/Negative/Equivocal); specific fusion genes identified by reverse transcription PCR or FISH
- Borderline/Equivocal Results: May occur with low tumor cellularity, degraded samples, or rare variants; requires repeat testing with fresh sample or alternative testing method
Section 3: Interpretation
- EWSR1-FLI1 t(11;22) Fusion: Diagnostic of Ewing sarcoma; found in 85-90% of cases; associated with aggressive behavior and metastatic potential; predicts response to EWS-targeted therapy
- SS18-SSX1/SSX2 Fusion: Diagnostic of synovial sarcoma; present in >95% of cases; SSX2 variant associated with better prognosis than SSX1; guides chemotherapy decisions
- PAX3/PAX7-FKHR Fusion: Indicates alveolar rhabdomyosarcoma (embryonal or alveolar subtype); associated with poor prognosis; PAX3 fusion more aggressive than PAX7; predicts chemotherapy response
- Myxoid Liposarcoma Translocations: FGFR1-LOC100288311 or FUS-DDIT3 fusions found in 95% of myxoid/round cell liposarcomas; indicates intermediate to high grade; influences treatment planning
- EWS-WT1 Fusion: Pathognomonic for desmoplastic small round cell tumor (DSRCT); aggressive presentation with poor prognosis; multimodal therapy typically required
- Negative Result Significance: Does not exclude sarcoma diagnosis; may indicate non-fusion sarcomas (pleomorphic, leiomyosarcoma, fibrosarcoma, undifferentiated sarcoma); requires comprehensive histopathologic review
- Factors Affecting Interpretation: Sample quality and tumor cellularity, formalin fixation duration, tissue degradation, contamination, presence of necrosis or hemorrhage, rare variant translocations
- Clinical Correlation Essential: Results must be integrated with histologic findings, imaging characteristics, immunohistochemistry, and clinical presentation for definitive diagnosis
Section 4: Associated Organs
- Primary Organ System: Soft tissues including muscle, adipose tissue, connective tissue, and fascia; can occur in extremities, trunk, retroperitoneum, and head/neck regions
- Commonly Associated Diseases: Ewing sarcoma, synovial sarcoma, rhabdomyosarcoma, liposarcoma, fibrosarcoma, leiomyosarcoma, angiosarcoma, clear cell sarcoma
- Ewing Sarcoma Characteristics: Typically arises in femur, pelvis, and tibia; most common in adolescents and young adults; highly aggressive with early metastatic potential; 5-year survival ~70% with treatment
- Synovial Sarcoma Characteristics: Arises near large joints (knee, shoulder); occurs in young adults (15-40 years); high grade malignancy; prone to pulmonary metastases; 5-year survival ~60%
- Rhabdomyosarcoma Characteristics: Most common soft tissue sarcoma in children; alveolar subtype more aggressive; occurs in extremities, orbit, and genitourinary sites; requires intensive multimodal therapy
- Potential Complications: Pulmonary metastases (most common), bone metastases, lymph node involvement, local recurrence, chemotherapy-related toxicity, radiation-induced secondary malignancies
- Associated Risk Factors: Young age, genetic predisposition (Li-Fraumeni syndrome, neurofibromatosis), prior radiation exposure, environmental toxins; no clear preventive measures
Section 5: Follow-up Tests
- Confirmatory/Complementary Testing: Fluorescence in situ hybridization (FISH), reverse transcription PCR (RT-PCR), next-generation sequencing (NGS), immunohistochemistry for lineage markers
- Imaging Studies Recommended: MRI of primary tumor site for surgical planning, chest CT for pulmonary metastases screening, PET-CT for staging and metastatic workup, bone scan if osseous involvement suspected
- Prognostic Markers: Ki-67 proliferation index, p53 status, tumor necrosis percentage, microRNA profiling, gene expression profiling for risk stratification
- Therapy Response Monitoring: Serial imaging (MRI/CT) during neoadjuvant chemotherapy, circulating tumor DNA monitoring, serum lactate dehydrogenase (LDH), tumor markers based on fusion gene type
- Surveillance and Monitoring: Baseline imaging every 3 months for first 2 years post-treatment, every 6 months for years 2-5, annually thereafter; regular clinical examinations for local recurrence
- Recurrence Detection: Repeat molecular testing of recurrent lesions, imaging-guided biopsy, repeat soft tissue sarcoma panel if recurrence suspected, comparison with original tumor findings
- Treatment Planning Tests: Targeted mutation panels for immunotherapy eligibility, microsatellite instability testing, tumor mutational burden assessment, PD-L1 expression analysis
- Related Complementary Tests: Complete blood count, metabolic panel, liver function tests, renal function tests, cardiac assessment (echocardiogram), hearing assessment before chemotherapy
Section 6: Fasting Required?
- Fasting Requirement: NO - Fasting is not required for the Soft Tissue Sarcoma Panel
- Specimen Collection: Test is performed on tissue specimens (formalin-fixed paraffin-embedded tissue, fresh tissue, or frozen tissue) obtained via biopsy or surgical resection; not a blood test
- Specimen Handling Requirements: Tissue must be properly fixed in 10% neutral buffered formalin for optimal molecular analysis; ensure adequate tumor cellularity (>20%) in specimen; minimize formalin exposure time (optimal: 6-24 hours)
- Patient Preparation: No special preparation needed for tissue-based molecular testing; if biopsy is planned, standard pre-procedure protocols apply (informed consent, imaging confirmation)
- Medications/Substances to Avoid: No medication restrictions for tissue-based testing; if procedure-related anticoagulation management needed, follow institution-specific guidelines
- Additional Instructions: Ensure adequate tissue quantity and quality; label specimen correctly with patient identifiers; document fixation time; communicate urgency to laboratory; notify if tissue is partially fixed
- Turnaround Time: Typically 5-10 business days depending on complexity; may be expedited (2-3 days) with urgent status notation; results reported as written report with pathologist interpretation

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