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Comprehensive Multiple Myeloma Panel by FISH, Heparin Bone Marrow
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No Fasting Required
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Cytogenetic panel for MM.
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Comprehensive Multiple Myeloma Panel by FISH Heparin Bone Marrow
- Why is it done?
- Test Purpose: This test detects chromosomal and genetic abnormalities in bone marrow plasma cells using Fluorescence In Situ Hybridization (FISH) technology to identify prognostic markers in multiple myeloma patients.
- Primary Indications: Diagnosis and risk stratification of multiple myeloma; evaluation of suspected plasma cell dyscrasias; assessment of disease progression; determination of prognosis and treatment planning; monitoring for disease relapse.
- When Performed: At initial diagnosis when multiple myeloma or MGUS is suspected; during treatment monitoring; when assessing treatment response; at signs of disease progression or relapse; as part of comprehensive myeloma staging workup.
- Clinical Context: Essential for identifying high-risk cytogenetic abnormalities that impact treatment selection and prognosis prediction in myeloma patients.
- Normal Range
- Normal Result: Negative for FISH abnormalities; absence of detected chromosomal translocations or deletions; no evidence of high-risk genetic markers.
- Key Markers Assessed: t(11;14) translocation; t(4;14) translocation; t(14;16) translocation; del(17p); del(13q); hyperdiploidy; tetraploidy.
- Interpretation Categories: Positive (Abnormal) - Presence of one or more cytogenetic aberrations; Negative (Normal) - No detected chromosomal abnormalities; Borderline - Minimal or borderline findings requiring clinical correlation.
- Units of Measurement: Presence or absence of specific genetic abnormalities; percentage of positive cells when quantified; descriptive cytogenetic findings.
- Clinical Significance: Normal results suggest standard-risk disease; abnormal results indicate increased risk, higher likelihood of progression, or need for intensified therapy.
- Interpretation
- High-Risk Cytogenetics (Unfavorable Prognosis): del(17p) - Associated with TP53 deletion; poorest prognosis; del(13q) - Indicates increased risk; t(4;14) - Translocation of FGFR3; associated with poor outcomes; t(14;16) - Rare translocation; indicates aggressive disease.
- Standard-Risk Cytogenetics (Favorable Prognosis): t(11;14) - CCND1 translocation; generally favorable prognosis; Hyperdiploidy - Generally associated with better outcomes; Absence of del(17p) and t(4;14).
- Multiple Abnormalities: Presence of multiple chromosomal abnormalities suggests complex disease; increased genomic instability; requires more aggressive treatment approaches; worse overall prognosis.
- Factors Affecting Interpretation: Sample quality and adequate plasma cell representation; prior treatment affecting clonal composition; timing of biopsy relative to disease stage; clonal heterogeneity; technical limitations in FISH sensitivity.
- Treatment Implications: High-risk markers may necessitate stem cell transplantation; targeted therapies selection; proteasome inhibitors or immunomodulatory drugs selection; intensified monitoring protocols.
- Prognostic Significance: Predicts progression-free survival and overall survival; guides therapeutic escalation decisions; identifies candidates for clinical trials; informs patient counseling and risk stratification.
- Associated Organs
- Primary Organ System: Bone marrow (hematopoietic system); lymphoid tissue; skeletal system.
- Associated Diseases: Multiple myeloma (primary indication); light chain multiple myeloma; nonsecretory myeloma; smoldering multiple myeloma; monoclonal gammopathy of undetermined significance (MGUS); Waldenström macroglobulinemia; AL amyloidosis; primary systemic amyloidosis.
- Organ Involvement Patterns: Bone involvement and lytic lesions; renal impairment from light chain nephropathy; hypercalcemia; vertebral compression fractures; hepatosplenomegaly; neurologic complications.
- Complications Associated with High-Risk Features: Rapid disease progression; increased risk of extramedullary disease; higher incidence of secondary malignancies; treatment resistance; shortened survival time; organ failure.
- Multi-System Effects: Cardiovascular system (cardiac amyloidosis); renal system (kidney damage); nervous system (neuropathy, spinal cord compression); immune system (infections); endocrine system.
- Follow-up Tests
- Immediate/Concurrent Tests: Bone marrow morphology and aspirate cytology; immunophenotyping by flow cytometry; serum protein electrophoresis; free light chain assay; complete metabolic panel; complete blood count.
- Staging and Prognostic Workup: Cytogenetic analysis; conventional karyotyping; additional FISH panels if indicated; beta-2 microglobulin; lactate dehydrogenase (LDH); imaging studies (MRI, CT, PET-CT).
- Risk Stratification Assessment: Gene expression profiling; targeted next-generation sequencing; TP53 mutation analysis; MYC rearrangement assessment; comprehensive genomic profiling when clinically indicated.
- Monitoring and Surveillance: Repeat FISH testing at disease progression; periodic monitoring for patients on active therapy; reassessment during treatment changes; surveillance for clonal evolution.
- Organ Function Assessment: Renal function tests (creatinine, eGFR, urinalysis); bone imaging and densitometry; cardiac assessment when amyloidosis suspected; neurologic evaluation if indicated.
- Treatment Response Monitoring: Serial serum/urine protein electrophoresis; free light chain measurements; repeat bone marrow studies; FISH reassessment post-transplantation or after significant treatment courses.
- Recommended Monitoring Frequency: Every 3-4 months during active treatment; every 6-12 months during remission; upon clinical progression; at each major treatment change; as clinically warranted based on disease course.
- Fasting Required?
- Fasting Requirement: No - Fasting is NOT required for this test.
- Specimen Collection: Bone marrow aspirate/biopsy collected in EDTA (lavender-top) tubes or heparin tubes as specified; obtained via bone marrow aspiration and biopsy procedure; typically from posterior iliac crest.
- Specimen Handling: Sample must be transported at room temperature; delivered promptly to laboratory; proper labeling and chain of custody required; specification for heparin as anticoagulant per lab instructions.
- Patient Preparation: No special dietary restrictions; no fasting required; continue regular medications as prescribed; inform physician of current anticoagulation therapy; discuss any bleeding disorders or medication allergies.
- Pre-Procedure Instructions: Discuss bone marrow biopsy procedure; review potential risks and benefits; sign informed consent; position appropriately for posterior iliac crest access; local anesthesia typically administered.
- Medication Considerations: Continue all routine medications; anticoagulants (warfarin, direct oral anticoagulants) may require adjustment per physician discretion; antiplatelet agents may be continued unless otherwise directed; discuss aspirin or NSAID use.
- Post-Procedure Care: Apply pressure to biopsy site for hemostasis; monitor for excessive bleeding; expect mild discomfort and bruising; resume normal activities as tolerated; contact physician if severe pain, excessive bleeding, or fever develops.
How our test process works!

