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CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia

Leukemia volume 24, pages 1516–1519 (2010)Cite this article

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RUNX1 (Runt-related transcription factor 1) gene, also known as AML1, maps at 21q22.3 and encodes a transcription factor crucial for normal hematopoiesis. It is frequently involved in gene fusions resulting from 35 different translocations1 (http://cgap.nci.nih.gov/Chromosomes/Mitelman). The fusion transcript 5′RUNX1/3′CBFA2T1 (alias MTG8 or ETO), resulting from a t(8;21)(q22;q22), is present in approximately 30% of acute myeloid leukemia M2 patients (AML-M2).2 Other frequent fusions, in adult AML, are the t(16;21)(q24;q22), occurring in AML-M1/M2 patients and generating a 5′RUNX1/3′CBFA2T3 chimera,4 and the t(3;21)(q26;q22), found in both de novo and secondary AML, fusing RUNX1 to MDS1, RPL22L1 (also known as EAP) or EVI1.1 In two AML cases showing a t(20;21) translocation, the partner gene was not identified.4, 5 We report here the characterization of two chimeric transcripts identified in AML translocation cases involving CBFA2T2 (core-binding factor, runt domain, α subunit; translocated to, 2), an ETO homologous gene on chromosome 20, and C20orf112.

A 69-year-old man was referred in July 1989 to the Department of Internal Medicine of the Hôpital Pasteur (Nice) because of sudden fatigue and weakness. Physical examination was normal. The blood count showed: white blood cells 18.9 × 109/l with 87% blast cells; hemoglobin (Hb) 6.8g per 100 ml, and platelets 29 × 109/l. The bone marrow (BM) was infiltrated by 65% blast cells with myeloid morphology and strong peroxydase activity, and showed marked dysplasia. In retrospect, a diagnosis of AML with multilineage dysplasia without preceding myelodysplastic syndrome, according to the WHO (World Health Organization) classification, can be made. No evidence of exposure to mutagenic agents was found. Treatment with low-dose cytosine arabinoside (Ara-C) followed by purine analogs failed to induce remission. In spite of the continuing medical support including blood products, the patient died 7 months after diagnosis.

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Acknowledgements

This work has been supported by COST Action BM0801 (EuGESMA, The European Genomic and Epigenetic Study on MDS and AML), the AIRC (Associazione Italiana per la Ricerca sul Cancro) and the MIUR (Ministero dell'Istruzione, dell'Università e della Ricerca).

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Authors and Affiliations

  1. Department of Genetics and Microbiology, University of Bari, Bari, Italy

    M C Guastadisegni, A Lonoce, L Impera, F Di Terlizzi, M Rocchi & C T Storlazzi

  2. Department of Hematology, University of Genoa, V.le Benedetto XV-6, Genoa, Italy

    G Fugazza, S Aliano & R Grasso

  3. Laboratoire d'Oncohématologie, Hôpital Pasteur, Pavillon J niveau 0, 30 voie romaine, Nice cedex, France,

    T Cluzeau & S Raynaud

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  1. M C Guastadisegni
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Correspondence to C T Storlazzi.

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Guastadisegni, M., Lonoce, A., Impera, L. et al. CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia. Leukemia 24, 1516–1519 (2010). https://doi.org/10.1038/leu.2010.106

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