AML with Recurrent Genetic Abnormalities (WHO 2008)

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Author:
elzotter
ID:
77293
Filename:
AML with Recurrent Genetic Abnormalities (WHO 2008)
Updated:
2011-04-04 14:37:28
Tags:
cytogenetics molecular lymphoma
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Description:
cytogenetics, molecular, lymphoma
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  1. t(8;21)(q22;q22)
    • RUNX1-RUNXT1
    • (formerly AML1/ETO)

    Favorable
  2. inv(16)(p13q22) or
    t(16;16)(p13;q22)
    CBFB-MYH11

    Favorable
  3. t(15;17)(q22;q12)
    PML-RARA

    Favorable (ATRA)
  4. t(9;11)(p22;q23)
    MLLT3-MLL

    • Intermediate but superior to AML
    • with other 11q23 abnormalities
  5. t(6;9)(p23;q34)
    DEK-NUP214

    Poor
  6. inv(3)(q21;q26) or
    t(3;3)(q21;q26)
    RPN-EVI1

    Poor
  7. t(1;22)(p13;q13)
    (megakaryoblastic)
    RBM15-MKL1

    • Previously poor; now responds
    • well to intensive chemo
  8. Variant RARA translocations in acute leukemia:
    • • t(5;17)(q35;q21) (NPM1-RARA): ATRA sensitive
    • • t(11;17)(q13;q21) (NUMA1-RARA): ATRA sensitive
    • • t(11;17)(q23;q21) (ZBTB16-RARA): ATRA resistant
    • • t(17;17)(q13;q21) (STAT5-RARA): ATRA resistant

    Must identify specific partner of RARA involved in translocation because of differing sensitivities to ATRA
  9. FLT3: tyrosine kinase receptor
    • FLT3-ITD mutations (Internal Tandem Duplications within juxtamembrane
    • domain): associated with adverse outcome

    • FLT3-TKD mutations (within 2nd Tyrosine Kinase domain): significance
    • controversial
  10. AML with mutated NPM1 (provisional entity)
    • Shows aberrant cytoplasmic expression of nucleophosmin (NPM)

    • • Favorable prognosis if present in setting of normal karyotype and in the
    • absence of FLT3-ITD mutation
  11. AML with mutated CEBPA (provisional entity)
    • Favorable prognosis if present in setting of normal karyotype (significance of
    • FLT3-ITD on prognosis remains to be clarified)

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