Cytogenetic Findings

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Author:
elzotter
ID:
77287
Filename:
Cytogenetic Findings
Updated:
2011-04-04 14:16:51
Tags:
cytogenetics molecular lymphoma
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Description:
cytogenetics, molecular, lymphoma
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  1. Cytogenetic Findings in Chronic Lymphocytic Leukemia
    • • Deletion 13q14 (50%) (good prognosis if sole abnormality)
    • • Deletion 11q22 (ATM) (poor prognosis)
    • • Deletion 17p13 (p53) (poor prognosis)
    • • Trisomy 12 (20%) impact on prognosis unresolved)

    • 2 molecular subtypes based on maturation of B cell:
    • • Mutated: Somatic hypermutation of IGH variable region (lower risk)
    • • Unmutated: >98% homology to germline (higher risk)
  2. Cytogenetic Findings in Multiple Myeloma
    • 1) Hyperdiploid sub-group:
    • • Significantly better overall survival
    • • Gains involving primarily +3, +5, +7, +9, +11, +15,
    • +19, +21
    • • Infrequent structural abnormalities

    • 2) Hypodiploid sub-group:
    • • More aggressive clinical course
    • • Strongly correlated with complex structural
    • rearrangements
    • • 14q32 translocations
    • • Monosomy 13 or partial deletion of chr 13 (13q14)
  3. Cytogenetic Findings in Myelodysplastic Syndromes
    • Good risk:
    • • Normal karyotype
    • • Isolated del(5q)
    • • Isolated del(20q)
    • • -Y

    • Poor risk:
    • • Complex abnormalities (i.e. ≥ 3 abnormalities)
    • • -7 or del(7q)

    • Intermediate Risk:
    • • All other abnormalities
  4. Cytogenetic Findings in Chronic Myelogenous Leukemia
    • • t(9;22)(q34;q11) BCR-ABL1
    • • 90-95% of cases have t(9;22) at diagnosis

    • Breakpoint in BCR determines size of BCR-ABL1 fusion protein
    • • Major breakpoint region: p210 (210 kilodaltons)
    • • μ breakpoint cluster: p230 (230 kilodaltons)

    • Additional chromosomal aberrations associated with progression include:
    • +8, isochromosome 17q, additional
    • Ph chromosome +der(22)

    • • Quantitative RT-PCR for BCL-ABL1 fusion transcript used to assess for response to imatinib
    • • Imatinib competes with ATP for binding to BCR-ABL1 kinase domain
    • • Point mutations that prevent drug binding to BCR-ABL1 kinase domain can lead to drug resistance
    • • T315I mutation: resistant to imatinib & other kinase inhibitors

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