Acute Myeloid Leukemia With Recurrent Cytogenetic Abnormalities

Area of Science:

• Hematopathology
• Cytogenetics
• Molecular Biology

Background:

• The 2013 Society for Hematopathology/European Association for Hematopathology Workshop focused on acute myeloid leukemia (AML) with recurrent cytogenetic abnormalities.
• Seven specific translocations are defined as recurrent in AML based on World Health Organization 2008 criteria.

Purpose of the Study:

• To review cases of AML with recurrent cytogenetic abnormalities.
• To provide updated diagnostic recommendations for acute promyelocytic leukemia (APL).
• To discuss variant RARA mutations and refine the diagnosis of low-blast-count AML.

Main Methods:

• Analysis of 38 submitted cases of AML with recurrent cytogenetic abnormalities.
• Classification based on World Health Organization 2008 criteria.
• Consideration of morphologic, immunophenotypic, and genetic variations.

Main Results:

• The majority of cases included acute promyelocytic leukemia (APL) with t(15;17) (12 cases), AML with t(8;21) (7 cases), AML with inv(3) (6 cases), and AML with 11q23 translocations (5 cases).

Conclusions:

• Updated recommendations for rapid APL diagnosis are provided.
• The significance of variant RARA mutations in APL-like leukemias is discussed.
• Refinement of low-blast-count AML diagnosis and the importance of variations in AML with recurrent cytogenetic abnormalities are highlighted.