What are the cytogenetic abnormalities associated with acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC)?

Updated: Aug 03, 2020
  • Author: Angie Duong, MD; Chief Editor: Aliyah R Sohani, MD  more...
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The cytogenetic abnormalities that are myelodysplastic syndrome (MDS) related and are sufficient to categorize acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) (even without morphologic evidence of dysplasia) are as follows:

  • Complex karyotype: Three or more unrelated abnormalities, none of which include the recurrent cytogenetic abnormalities encountered in AML [7]

  • Unbalanced abnormalities: -7/del(7q), -5/del(5q), i(17q)/t(17p), -13/del(13q), del(11q), del(12p)/t(12p), and idic(X)(q13) [1]

  • Balanced abnormalities: t(11;16)(q23;p13.3), t(3;21)(q26.2;q21.2), t(1;3)(p36.3;q21.1), t(2;11)(p21;q23), t(5;12)(q33p13.2t(5;7)(q33q11.2), t(5;17)(q33p13.2 t(5;10)(q33q21), and t(3;5)(q25;q34) [1]

Cases of AML with NPM1 or biallelic CEBPA mutations as the only genetic alterations are classified separately, even if morphologic evidence of dysplasia is present. [1, 8, 9]

A variety of MDS-associated mutations, including those involving U2AF1ASXL1, and TP53, have been reported to be more common in AML-MRC than in AML not otherwise specified (AML-NOS). [2]  TP53 mutations are frequently associated with a complex karyotype. [16]  PIGN gene expression aberration appears to be associated with genomic instability and leukemic progression in AML-MRC. [17]  This gene may play an essential role in regulating mitotic integrity to maintain chromosomal stability and preventing leukemic transformation/progression.

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