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13q del by FISH

Cancer
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Fluorescence in situ hybridization (FISH) detects deletion of chromosome 13q.

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13q del by FISH - Comprehensive Medical Test Guide

  • Why is it done?
    • Detects deletion of chromosome 13q, a chromosomal abnormality involving the long arm of chromosome 13, which is commonly associated with hematologic malignancies
    • Primary indication: Diagnosis and risk stratification of chronic lymphocytic leukemia (CLL) and other B-cell lymphoproliferative disorders
    • Evaluates prognosis in patients with CLL; 13q deletion is associated with favorable prognosis when present as a sole abnormality
    • Performed at initial diagnosis of suspected hematologic malignancy and may be repeated during disease monitoring or treatment planning
    • Used to guide therapeutic decision-making and predict treatment response
  • Normal Range
    • Normal Result: Absence of 13q deletion (reported as negative or "No 13q deletion detected")
    • Abnormal Result: Presence of 13q deletion (reported as positive, typically with percentage of cells affected, e.g., "13q deletion detected in 80% of cells")
    • Units of Measurement: Percentage (%) of cells with the deletion; Results typically reported as positive/negative or quantified as percentage of abnormal cells
    • Interpretation Guide: Negative = normal; Positive = deletion present and clinically significant when present in ≥5-10% of cells
  • Interpretation
    • 13q Deletion Present (Positive): Indicates loss of genetic material on chromosome 13q; in CLL, this is considered a favorable prognostic marker when it is the sole cytogenetic abnormality, associated with longer median overall survival and favorable response to treatment
    • 13q Deletion Absent (Negative): Indicates absence of this particular chromosomal abnormality; further testing required to identify other cytogenetic abnormalities (such as 11q deletion, 17p deletion, or TP53 mutations) that may indicate less favorable prognosis
    • Percentage of Cells with Deletion: Higher percentages may indicate greater disease burden; however, any detectable 13q deletion in the appropriate clinical context is significant
    • Co-existing Abnormalities: The prognostic significance of 13q deletion is modified when present with other abnormalities; presence with 17p deletion or TP53 mutation indicates poor prognosis; presence with 11q deletion indicates intermediate prognosis
    • Clinical Significance: Results directly impact treatment decisions, including timing of initiation of therapy and selection of specific therapeutic agents
    • Limitations: FISH detects only the specific 13q deletion; other chromosomal abnormalities require additional testing; results depend on adequate cell sample and proper laboratory technique
  • Associated Organs
    • Primary Organ Systems Involved: Hematopoietic and lymphoid systems; bone marrow and blood
    • Associated Diseases: Chronic lymphocytic leukemia (CLL) - most common association; Small lymphocytic lymphoma (SLL); Marginal zone lymphoma; Other B-cell lymphoproliferative disorders
    • Secondary Organ Involvement: Lymph nodes, spleen, liver (may become enlarged with disease progression); Central nervous system (less common); Other lymphoid tissues
    • Potential Complications: Progressive leukemia/lymphoma; Infections due to immune compromise; Autoimmune phenomena; Richter transformation (transformation to aggressive lymphoma); Secondary malignancies from treatment
    • Disease Monitoring Impact: 13q deletion as sole abnormality may follow a more indolent course, potentially allowing for "watch and wait" approach; conversely, absence of favorable markers may necessitate earlier intervention
  • Follow-up Tests
    • Additional Cytogenetic/Molecular Tests: 17p deletion FISH (del(17p)); 11q deletion FISH (del(11q)); TP53 mutation testing; Complex karyotype assessment; Cytogenetic analysis (metaphase cytogenetics)
    • Flow Cytometry: Immunophenotyping to confirm B-cell lymphoproliferative disorder and further characterize the malignancy
    • Clinical Laboratory Tests: Complete blood count (CBC); Comprehensive metabolic panel; Serum lactate dehydrogenase (LDH); Beta-2 microglobulin; Flow cytometry for absolute lymphocyte count
    • Imaging Studies: Computed tomography (CT) scan; Positron emission tomography (PET) scan; Ultrasound (for lymphadenopathy and organomegaly assessment)
    • Repeat FISH Testing: May be performed at disease progression, before treatment initiation, or during treatment monitoring (typically every 6-12 months or as clinically indicated)
    • Tissue Biopsy: Bone marrow biopsy and aspirate (if diagnosis uncertain or to assess marrow involvement); Lymph node biopsy (if clinically indicated to rule out transformation)
    • Monitoring Frequency: Asymptomatic patients: clinical evaluation every 3-6 months; Patients on therapy: more frequent evaluation per treatment protocol; Post-treatment: periodic surveillance as per clinical guidelines
  • Fasting Required?
    • Fasting Required: No
    • Sample Type: Peripheral blood (venipuncture), bone marrow aspirate, or bone marrow biopsy specimen
    • Patient Preparation: Minimal preparation required; patient should be seated or recumbent during blood draw; no specific dietary restrictions; routine hygiene and arm cleansing performed by phlebotomist
    • Medications: No medications need to be held before this test; continue all regular medications as prescribed
    • Special Instructions: Inform healthcare provider of any clotting disorders or anticoagulation therapy; adequate sample volume is critical for accurate results; for bone marrow specimens, local anesthesia is used; samples must be transported promptly to laboratory

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