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Acute Myelogenous Leukemias with Recurrent Cytogenetic Abnormalities

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Definition

This WHO group of Acute Myelogenous Leukemias is characterized by recurrent genetic abnormalities. The abnormalities are generally balanced translocations and have a high ratio  of complete remission and favorable prognosis. 

Sample Cases

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Case Name
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Categories

The following are recurring cytogenetic abnormalities seen in AML:

  • Acute myeloid leukemia with t(8;21)(q22;q22); (AML1/ETO)
  • Acute myelid leukemia with inv(16)(p13q22) or t(16;16)(p13q22); (CBFB/MYH11)
  • Acute promyelocytic leukemia (AML with t(15;17)(q22;q12); (PML/RARa)
  • Acute meyeloid leukemia with 11q23 (MLL) abnormalities

      

 Many of these genetic abnormalities are detected by reverse polymerase chain reaction (RT-PCR) which has a higher vity of ( X 10 5) than conventional cytogenetics (1 X 10 2)

Morphology and cytochemistry
Immunophenotyping
Other relevant tests
Genetics

Certain cytogenetic abnormalities are associated with very good outcomes (for example, the (15;17) translocation in acute promyelocytic leukemia). About half of AML patients have "normal" cytogenetics; they fall into an intermediate risk group. A number of other cytogenetic abnormalities are known to associate with a poor prognosis and a high risk of relapse after treatment

Subclassification
  Risk Category   Abnormality   5-year survival   Relapse rate
  Favorable

  

t(8;21), t(15;17), inv(16)

  70%   33%
  Intermediate

 

Normal, +8, +21, +22, del(7q), del(9q), Abnormal 11q23, all other structural or numerical changes

  48%   50% 
   Adverse

  

5, -7, del(5q), Abnormal 3q, Complex cytogenetics

  15%    78%
Flow Diagnosis