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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Duplication and triplication of der(21)t(8;21)(q22;q22) in acute myeloid leukemia
Michael Mikulasovich1, Amanda LeBlanc, Angela Scalise
1Tumor Cytogenetics Laboratory, The Mount Sinai School of Medicine, 1 Gustave L. Levy Place, New York, NY 1002, USA.
Abstract:
We report on two patients with complicons resulting in duplication der(21)t(8;21)(q22;q22), triplication in the form of isochromosome of der(21)t(8;21), and four copies of ETO-AML1 fusion. Duplication of der(21) was present at diagnosis as a minor cell population in one patient, while the presence of isoderivative (21)t(8;21) characterized the relapse cells of the second patient. Due to the rarity of these cases, literature search of other reported cases of complicons may be taken as evidence that duplication and triplication of ETO-AML1 may be a poor prognostic indicator, regardless of whether it is present at diagnosis or relapse.
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