17p Deletion p53 (MM, CLL), Heparin Bone Marrow

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FISH detects loss of p53 tumor suppressor gene on chromosome 17p.

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17p Deletion p53 (MM CLL) Heparin Bone Marrow - Comprehensive Guide

Section 1: Why is it done?
- Test Overview: This test detects deletion of the short arm (p) of chromosome 17, specifically involving the p53 gene locus. It is performed using fluorescence in situ hybridization (FISH) on bone marrow specimens to identify this critical cytogenetic abnormality in hematologic malignancies.
- Primary Indications: Initial diagnosis and risk stratification of chronic lymphocytic leukemia (CLL)
- Initial diagnosis and risk stratification of multiple myeloma (MM)
- Prognostic assessment to determine aggressive disease course and treatment response prediction
- Monitoring for disease progression or relapse in patients with known CLL or MM
- Treatment selection and planning, particularly for eligibility of targeted therapies
- Clinical Timing: Performed at initial diagnosis, before initiating treatment, during treatment monitoring, and if disease progression is suspected
Section 2: Normal Range
- Normal Result: Absence of 17p deletion (0% cells with deletion detected)
- Negative Result Interpretation: Two intact copies of chromosome 17 with intact p53 locus detected in all examined cells
- Abnormal Result - Positive: Deletion of chromosome 17p (typically reported as ≥10% of cells showing del(17p) or presence of monosomy 17)
- Quantification: Results are typically reported as percentage of cells with deletion or as present/absent with quantification of abnormal cells
- Clinical Thresholds: In CLL, ≥10% is considered clonally significant; in MM, even lower percentages may be clinically relevant
- Units of Measurement: Percentage (%) of cells with cytogenetic abnormality; also reported qualitatively as present or absent
Section 3: Interpretation
- Negative 17p Deletion (No Deletion): Indicates more favorable prognosis and longer median overall survival in both CLL and MM. Associated with standard-risk disease and typically better response to conventional chemotherapy.
- Positive 17p Deletion (≥10% cells or monosomy 17): Indicates high-risk disease with significantly worse prognosis and shorter median overall survival. Represents loss of p53 tumor suppressor gene function, leading to aggressive disease course and resistance to conventional therapy.
- Clinical Significance in CLL: 17p deletion is the strongest independent predictor of treatment failure and shortened survival. Median overall survival typically 2-5 years versus 8-10+ years without deletion. Often requires alternative treatment strategies including targeted agents.
- Clinical Significance in MM: Associated with high-risk disease with significantly shortened progression-free and overall survival. Often combined with other high-risk features (t(4;14), t(14;16)) to stratify patients into ultra-high-risk category.
- Factors Affecting Interpretation: Sample quality and cellularity, number of cells analyzed (typically minimum 200 nuclei for FISH), presence of adequate disease burden, specimen handling and timing
- Monosomy 17 vs. Del(17p): Complete loss of entire chromosome 17 (monosomy 17) is more aggressive than partial deletion of short arm, representing complete loss of both p53 alleles
- Prognostic Integration: Interpreted within context of International Prognostic Index (IPI) for CLL and Revised International Staging System (R-ISS) for MM, along with other cytogenetic findings and clinical parameters
Section 4: Associated Organs
- Primary Organ Systems: Bone marrow (primary site of abnormal cell production), peripheral blood, lymph nodes, and secondary involvement of liver and spleen
- Associated Diseases: Chronic lymphocytic leukemia (CLL) - most common hematologic malignancy with this finding in approximately 5-10% of patients
- Multiple myeloma (MM) - found in approximately 10-15% of patients, associated with adverse outcomes
- Waldenström macroglobulinemia - occasional presence in this lymphoid disorder
- Other lymphoproliferative disorders and secondary malignancies
- Complications with 17p Deletion: Rapid disease progression with shortened time to treatment initiation
- Chemotherapy resistance necessitating alternative treatment approaches
- Increased risk of infections due to severe immunosuppression and disease burden
- Organ infiltration and cytopenias affecting multiple organ systems
- Secondary malignancy development related to loss of p53 tumor suppressor function
- p53 Tumor Suppressor Function: Loss of p53 results in inability to induce apoptosis in response to DNA damage, leading to acquisition of additional mutations and aggressive clonal evolution
Section 5: Follow-up Tests
- Complementary Cytogenetic Studies: Additional FISH panels including del(13q), trisomy 12, and t(11;14) to complete prognostic stratification
- Conventional cytogenetics (karyotype) to identify additional chromosomal abnormalities
- For MM: t(4;14), t(14;16), and del(13q) testing if not already performed
- Molecular Studies: TP53 mutation analysis (sequencing) to detect point mutations in remaining p53 allele
- FISH or PCR-based minimal residual disease (MRD) monitoring for treatment response assessment
- Next-generation sequencing (NGS) for comprehensive mutational profiling including complex karyotype analysis
- Clinical Laboratory Monitoring: Complete blood count (CBC) with differential for cytopenias and disease burden assessment
- Serum protein electrophoresis (SPEP) and immunofixation for MM monitoring
- Flow cytometry for lymphocyte immunophenotyping and assessment of disease burden in CLL
- Serum free light chain assay for MM disease monitoring
- Imaging Studies: CT imaging for assessment of lymphadenopathy, organomegaly, and disease distribution
- PET-CT or skeletal survey for MM staging and bone disease assessment
- Monitoring Frequency: Initial baseline testing required at diagnosis; repeat testing performed at treatment decision points, during therapy, and if relapse is suspected (typically every 3-6 months during active treatment)
Section 6: Fasting Required?
- Fasting Requirement: No - Fasting is NOT required for this test
- Specimen Type: Bone marrow aspirate/biopsy specimen in sodium heparin (green-top tube) or EDTA anticoagulant is required
- Patient Preparation: No special dietary restrictions or fasting required
- Patient can eat and drink normally before specimen collection
- Continue all regular medications unless specifically instructed otherwise by physician
- Bone Marrow Procedure Preparation: Bone marrow aspiration/biopsy is typically performed by hematology specialist or hematopathologist
- Local anesthesia is administered to minimize discomfort at biopsy site (typically iliac crest or sternum)
- Patient should wear loose-fitting clothing that allows access to sampling site
- Specimen Handling and Timing: Specimen must be transported to laboratory immediately after collection to ensure cell viability for FISH analysis
- Proper anticoagulant must be used (sodium heparin tube - green-top)
- Specimen should not be allowed to clot or dry out
- Results typically available within 1-3 business days depending on laboratory workflow
- Medications - No Restrictions: Most medications do not require discontinuation and should be continued as prescribed
- Anticoagulants (warfarin, DOACs) may need temporary discontinuation - consult with physician prior to procedure
- Aspirin and NSAIDs: Typically can be continued; confirm with physician if patient has bleeding concerns

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