What is the role of cytogenetic analysis in the workup of erythroleukemia?

Updated: Dec 16, 2018
  • Author: Beata Holkova, MD; Chief Editor: Emmanuel C Besa, MD  more...
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The assessment of chromosomal abnormalities in patients with erythroleukemia is critical in the diagnosis and prognosis of disease. Multiple chromosomal abnormalities have been described, but none of them is specific for M6 acute myelogenous leukemia (AML).

Results from many studies demonstrate that certain chromosomal abnormalities are associated with different prognoses in all AMLs, including acute erythroleukemia, as follows:

  • Prognosis is favorable with t(8;21), inv16/t(16;16), and +14.

  • Prognosis is unfavorable with -5/5q, -7/7q-, inv3, 11q, 17p, del20q, +13, t(9;22), FT3 or more than 2 cytogenetic abnormalities.

  • Prognosis is intermediate with normal karyotype and all other cytogenetic abnormalities.

  • CEBPA associates with longer remission duration

  • NPM associates with increased response to chemotherapy

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