Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature

Robert D. Johnston, Farzaneh H. Sayedian, Christina Mendiola, William Ehman, Veronica Ortega, Gopalrao V.N. Velagaleti

Research output: Contribution to journalReview articlepeer-review

Abstract

Although the 5q- syndrome is common in both de novo and treatment related myelodysplastic syndrome (MDS) and the World Health Organization defined 5q- syndrome as a specific type of MDS, it is less common in acute myelogenous leukemia (AML). Recently, it was suggested that AML with diploidy/tetraploidy and/or 5q alterations may be associated with the cryptic translocation, t(7;21)(p22;q22) resulting in RUNX1-USP42 gene fusion and this association may have been underestimated. Here, we report another case of de novo AML with cryptic t(7;21)(p22;q22) associated with a 5q deletion.

Original languageEnglish (US)
Pages (from-to)30-34
Number of pages5
JournalCancer Genetics
Volume262-263
DOIs
StatePublished - Apr 2022

Keywords

  • 5q abnormalities
  • Acute myeloid leukemia
  • Fluorescence in situ hybridization
  • Minimal differentiation
  • t(7, 21)

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Cancer Research

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