Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

D. Tolomeo, A. L'Abbate, A. Lonoce, P. D'Addabbo, M. F. Miccoli, C. Lo Cunsolo, P. Iuzzolino, O. Palumbo, M. Carella, V. Racanelli, T. Mazza, E. Ottaviani, G. Martinelli, G. Macchia, C. T. Storlazzi

Research output: Contribution to journalArticlepeer-review


Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous hematological disorder defined by morphological, genetic, and clinical features. Patients with AML-MRC often show cytogenetic changes, which are associated with poor prognosis. Straightforward criteria for AML-MRC diagnosis and a more rigorous characterization of the genetic abnormalities accompanying this disease are needed. Here we describe an informative AML-MRC case, showing two separate, but concurrent, chromothripsis events, occurred at the onset of the tumor, and originating an unbalanced t(5;7) translocation and a derivative chromosome 12 with a highly rearranged short arm. Conversely, despite chromothripsis has been often associated with genomic amplification in cancer, in this case a large marker chromosome harboring amplified sequences from chromosomes 19 and 22 arose from a stepwise mechanism. Notably, the patient also showed a TP53 mutated status, known to be associated with an increased susceptibility towards chromothripsis and a poor prognosis. Our results indicate that multiple chromothripsis events may occur early in neoplastic transformation and act in a synergistic way with progressive chromosomal alterations to determine a dramatic impact on disease outcome, as suggested by the gene expression profile analysis.

Original languageEnglish
Pages (from-to)63-68
Number of pages6
JournalCancer genetics
Publication statusPublished - Sep 1 2019


  • AML
  • Chromothripsis
  • Complex karyotype
  • TP53
  • Translocation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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