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Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.
Journal article

Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.

  • Flach J Department of Hematology and Oncology, Medical Faculty Mannheim of the Heidelberg University, Mannheim, Germany.
  • Shumilov E Department of Hematology and Medical Oncology, University Medicine Göttingen, Göttingen, Germany.
  • Joncourt R University Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Porret N University Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Tchinda J Oncology Laboratory, University Children's Hospital Zurich, Zurich, Switzerland.
  • Legros M Center of Laboratory Medicine (ZLM), Inselspital, Bern University Hospital, Bern, Switzerland.
  • Scarpelli I Department of Cancer Genetics, Laboratory Department, CHUV, University of Lausanne, Lausanne, Switzerland.
  • Hewer E Institute of Pathology, University of Bern, Bern, Switzerland.
  • Novak U Department of Medical Oncology, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Schoumans J Department of Cancer Genetics, Laboratory Department, CHUV, University of Lausanne, Lausanne, Switzerland.
  • Bacher U University Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Pabst T Department of Medical Oncology, Inselspital, Bern University Hospital, Bern, Switzerland.
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  • 2019-11-23
Published in:
  • Genes, chromosomes & cancer. - 2020
acute myeloid leukemia
myeloid gene panel
new minimal residual disease marker
next-generation sequencing
rare RUNX1 rearrangements
Aged
Biomarkers, Tumor
Cell Line, Tumor
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 21
Core Binding Factor Alpha 2 Subunit
Gene Rearrangement
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Leukemia, Myeloid, Acute
Male
Oncogene Proteins, Fusion
Repressor Proteins
Translocation, Genetic
English Reciprocal RUNX1 fusions are traditionally found in up to 10% of acute myeloid leukemia (AML) patients, usually associated with a translocation (8;21)(q22;q22) corresponding to the RUNX1-RUNX1T1 fusion gene. So far, alternative RUNX1 rearrangements have been reported only rarely in AML, and the few reports so far have focused on results based on cytogenetics, fluorescence in situ hybridization, and polymerase chain reaction. Acknowledging the inherent limitations of these diagnostic techniques, the true incidence of rare RUNX1 rearrangements may be underestimated. In this report, we present two cases of adult AML, in which we detected rare RUNX1 rearrangements not by conventional cytogenetics but rather by next-generation panel sequencing. These include t(16;21)(q24;q22)/RUNX1-CBFA2T3 and t(7;21)(p22;q22)/RUNX1-USP42, respectively. In both patients the AML was therapy-related and associated with additional structural and numerical alterations thereby conferring bad prognosis. This is in line with previous reports on rare RUNX1 fusions in AML and emphasizes the clinical importance of their detection. In summary, our report not only confirms the clinical utility of NGS for diagnostics of rare reciprocal rearrangements in AML in a real-life scenario but also sheds light on the variety and complexity within AML. It further emphasizes the need for collection of additional cases for deepening insights on their clinical meaning as well as their frequency.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/263432
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