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7q Deletion/Monosomy (MDS), Heparin Bone Marrow

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Detects deletion/monosomy of chromosome 7q by FISH.

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7q Deletion/Monosomy (MDS) Heparin Bone Marrow - Comprehensive Test Guide

  • Section 1: Why is it done?
    • Test Purpose: This test detects the presence or absence of chromosome 7 or a portion of chromosome 7 (specifically the long arm, designated 7q) in bone marrow cells. It identifies monosomy 7 (complete loss of one copy of chromosome 7) or partial deletions of 7q, which are cytogenetic abnormalities commonly associated with myelodysplastic syndromes (MDS).
    • Primary Indications: Diagnosis and classification of myelodysplastic syndromes; Risk stratification in MDS patients; Monitoring disease progression; Evaluation of therapy-related MDS (t-MDS) or therapy-related acute myeloid leukemia (t-AML); Assessment of bone marrow dysplasia and cytopenias of unknown origin.
    • Clinical Scenarios: Patients presenting with unexplained pancytopenia or bicytopenia; Those with abnormal complete blood counts and suspicious bone marrow morphology; Patients with known or suspected MDS requiring cytogenetic characterization; Follow-up in patients with prior MDS diagnosis; Evaluation of treatment response or transformation to AML.
    • Specimen Collection: Bone marrow aspirate collected in heparin anticoagulant tube; Performed via bone marrow aspiration typically from the posterior iliac crest; Usually performed during initial workup or at intervals during monitoring.
  • Section 2: Normal Range
    • Reference Range Interpretation: This is a qualitative cytogenetic test rather than a quantitative measurement. Results are reported as present or absent.
    • Normal Result: No 7q deletion or monosomy 7 detected (denoted as: No 7q- or No monosomy 7; or reported as: 46,XX or 46,XY with normal chromosome 7); Indicates absence of this specific cytogenetic abnormality; Compatible with normal karyotype or other MDS-associated abnormalities may be present.
    • Abnormal Result - Positive: 7q deletion detected (del(7q)); Monosomy 7 detected (-7); Partial deletions may be reported with specific breakpoints (e.g., del(7)(q22q32)); Reported as a percentage of cells analyzed (e.g., 'del(7q) in 8/20 metaphases = 40% of cells')); May be clonal (recurring in multiple cells) or present as sole abnormality or in combination with other cytogenetic findings.
    • Clinical Significance of Results: Normal: Suggests absence of this particular chromosomal abnormality; does not exclude MDS or other hematologic malignancies; Abnormal: Highly specific for MDS, particularly therapy-related MDS; associated with poor prognosis; important for risk stratification using IPSS-R (Revised International Prognostic Scoring System).
  • Section 3: Interpretation
    • Monosomy 7 (Complete Loss of Chromosome 7): Represents the complete absence of one chromosome 7; Highly associated with therapy-related MDS/AML, particularly following chemotherapy or radiation; Associated with very poor prognosis; High risk for transformation to acute leukemia; Indicates need for close monitoring and consideration of intervention strategies.
    • Partial 7q Deletion (del(7q)): Loss of a portion of the long arm of chromosome 7; Specific breakpoints may correlate with different clinical outcomes; Common deletions include del(7q22), del(7q32-34); Still indicates MDS but may have slightly better prognosis than complete monosomy 7 depending on extent and location of deletion; IPSS-R classifies as intermediate or high-risk depending on complexity and other factors.
    • Percentage of Abnormal Cells: Lower percentages (e.g., 10-20%): May represent early clonal abnormality or possible contamination; requires correlation with morphologic findings; Higher percentages (>50%): Indicates more extensive clonal involvement; stronger evidence of MDS; 100%: Suggests complete clonal dominance or monosomy 7 in all analyzed cells.
    • Complex Karyotype Implications: If 7q deletion/monosomy 7 is present with other cytogenetic abnormalities (complex karyotype with ≥3 abnormalities): Significantly worse prognosis; Higher risk category on IPSS-R; Urgent consideration for treatment intervention.
    • Factors Affecting Results Accuracy: Quality and number of metaphases analyzed (typically 20+ metaphases); Specimen handling and processing time; Marrow cellularity and proliferation rate; Presence of fibrosis (may reduce metaphase count); Previous cytotoxic therapy; Timing of collection relative to treatment.
    • IPSS-R Risk Stratification: Monosomy 7 or del(7q): Classified as 'Very High Risk' cytogenetics in the IPSS-R scoring system; Predicts median overall survival of approximately 2-3 months without treatment; Major factor in determining prognosis and treatment recommendations.
  • Section 4: Associated Organs
    • Primary Organ System: Hematopoietic and lymphoid tissues (bone marrow); Red blood cell production; White blood cell production; Platelet production; Lymphoid organs (secondary effects).
    • Primary Diseases Associated with Abnormal Results: Myelodysplastic Syndrome (MDS) - primary association; Therapy-related MDS (t-MDS) - following chemotherapy, radiation, or tyrosine kinase inhibitors; Therapy-related Acute Myeloid Leukemia (t-AML) - progression from t-MDS; Secondary AML (sAML); De novo MDS with chromosome 7 abnormalities.
    • Clinical Manifestations in Affected Individuals: Anemia: Fatigue, dyspnea, pallor, weakness; Thrombocytopenia: Bleeding tendency, petechiae, easy bruising; Neutropenia: Increased infections, fever, mouth sores; Bone pain or tenderness from marrow hyperplasia; Splenomegaly (enlarged spleen) in some patients; Fever and constitutional symptoms.
    • Complications Associated with Abnormal Results: Severe infections (due to neutropenia); Life-threatening bleeding (due to severe thrombocytopenia); Transfusion dependence requiring iron overload; Alloimmunization to blood products; Rapid progression to acute leukemia; Secondary iron overload from chronic transfusions; Organ damage from repeated infections or bleeding; High mortality risk without intervention.
    • Target Organs Affected by Progression: Liver: Secondary hemochromatosis from transfusions; Portal hypertension; Spleen: Extramedullary hematopoiesis causing massive splenomegaly; Heart: Myocarditis from iron overload; Endocrine organs: Diabetes from iron overload; Central nervous system: Infection from severe immunosuppression; Lungs: Opportunistic infections.
  • Section 5: Follow-up Tests
    • Immediate Confirmatory Tests: FISH (Fluorescence In Situ Hybridization) for chromosome 7: More rapid confirmation; Better for detecting low-level abnormalities; Useful for identifying specific 7q deletions; Can determine presence of del(5q) or other deletions simultaneously; Recommended as reflex test if cytogenetics shows abnormality.
    • Morphologic and Flow Cytometry Studies: Bone marrow morphology (aspirate and biopsy): Assess degree of dysplasia; Determine percentage of blasts; Evaluate cellularity and fibrosis; Flow cytometry: Identify immature precursor population; Assess blast percentage; Look for dysplastic changes; Immunophenotyping: Classify MDS subtype.
    • Molecular and Genetic Testing: Comprehensive cytogenetic panel: Identify all chromosomal abnormalities; Next-Generation Sequencing (NGS): Detect gene mutations (TP53, RUNX1, ASXL1, etc.); Molecular mutation analysis: Important for prognostic scoring and treatment decisions; CGH array: For detection of submicroscopic abnormalities.
    • Hematologic Monitoring Tests: Complete Blood Count (CBC): Assess cytopenias; Monitor hemoglobin, WBC, platelets; Comprehensive metabolic panel: Evaluate organ function; Reticulocyte count: Assess bone marrow response; Iron studies: Screen for secondary hemochromatosis; LDH level: Marker of disease burden.
    • Monitoring Frequency and Recommended Follow-up Intervals: Initial diagnosis: Repeat cytogenetics if initial sample had <20 metaphases or uncertain findings; During treatment: Every 3-6 months or per treatment protocol; Stable untreated patients: Every 6-12 months or if clinical change; With therapy initiation: Baseline, then per protocol (often monthly-quarterly); For progression monitoring: More frequent if blast count increasing.
    • Prognostic and Risk Assessment Tests: IPSS-R (Revised International Prognostic Scoring System) calculation: Incorporates cytogenetics, blast percentage, and cytopenias; IPSS-M (Molecular): Newer scoring incorporating molecular mutations; TP53 mutation status: Particularly important with del(7q) or -7; Complex karyotype assessment: ≥3 abnormalities indicates very high risk.
    • Complementary Imaging and Evaluation: CT scan or ultrasound: Assess splenomegaly, extramedullary hematopoiesis; MRI abdomen: Evaluate for iron overload; Chest X-ray: Rule out infections; Infectious disease workup: If fever or infections present.
  • Section 6: Fasting Required?
    • Fasting Status: NO - Fasting is NOT required for bone marrow aspiration and cytogenetic analysis. Patients may eat and drink normally before the procedure.
    • Pre-Procedure Preparation and Instructions: Arrive with comfortable, loose-fitting clothing allowing easy access to posterior iliac crest; Inform physician of all medications, especially anticoagulants or antiplatelet agents; Inform of any allergies (especially to local anesthetics); Discuss bleeding disorders or bleeding risk; Plan for post-procedure rest period (typically 30 minutes to 1 hour); Arrange for transportation if sedation will be used.
    • Medications to Discuss with Physician: Anticoagulants: Warfarin, DOACs, heparin - may need temporary discontinuation; Antiplatelet agents: Aspirin, clopidogrel, ticagrelor - discuss continuation vs holding; NSAIDs: May increase bleeding risk; Certain herbal supplements: Gingko, garlic, ginseng - can affect clotting; Note: Heparin anticoagulant is specifically used in the collection tube for this test, so systemic heparin requires special consideration.
    • Day of Procedure Recommendations: Eat a light meal 2-3 hours before or after procedure (no special fasting needed); Maintain hydration - drink water and clear fluids; Take regularly scheduled medications unless specifically instructed otherwise; Void bladder before procedure for comfort; Wear loose, comfortable clothing; Do not apply lotions, perfumes, or oils to procedural site.
    • Post-Procedure Care Instructions: Rest for 24 hours following procedure; Apply ice packs to procedural site for 24 hours if bruising develops; Take acetaminophen as needed for mild discomfort (avoid NSAIDs for 48 hours if bleeding risk); Keep the puncture site clean and dry; Avoid strenuous activity for 24-48 hours; Observe puncture site for excessive bleeding, signs of infection, or swelling; Contact provider if significant pain, fever, or persistent bleeding occurs.
    • Special Considerations for Specimen Collection: The specimen must be collected in a heparin anticoagulant tube to prevent clotting; Immediate transport to laboratory is critical for optimal results; The heparin-anticoagulated sample is used specifically for cytogenetic analysis to preserve cell viability; Processing should begin within 24 hours of collection for best results; Do not use EDTA (purple-topped) tubes for cytogenetics - uses heparin (green-topped) tube.

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