Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

t(5;12)(q23–31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera

Leukemia volume 20, pages 1175–1178 (2006)Cite this article

Myeloproliferative disorders (MPD) are chronic clonal proliferations of hematopoietic progenitors. Typical MPDs include chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IF). Oncogenic alterations identified so far in MPDs target tyrosine kinases, result from chromosomal translocations or gene mutations and lead to constitutive activation of survival and proliferation pathways. Reciprocal translocations lead to gene fusion and production of chimeric proteins such as BCR-ABL, ETV6-PDGFRB or PCM1-JAK2.1, 2 Point mutations of the JAK2 kinase occur in almost all PV, and in around half of ET and IF.3 JAK2 functions downstream of membrane receptors, including cytokine receptors such as interleukin-3 (IL3) receptors. Overproduction of IL3 has been reported in atypical CML following rearrangements of the IL3 gene upstream region in cells from patients with t(5;12) (q23–31;p13) translocation and ETV6-ACSL6 fusion.4, 5, 6, 7

We report here two cases of t(5;12)(q23–31;p13) translocation with ETV6-ACSL6 rearrangement in PV patients. The main characteristics of the two patients (designated C1, C2) are reported in Table 1, along with the cases reported so far.4, 5, 6, 7 Patient C1, a 29-year-old man, presented in October 2002 with midly enlarged liver and spleen, effort dyspnea, and polycythemia with 59.7% hematocrit level. The bone marrow (BM) was hypercellular, with rare dystrophic megakaryocytes and 6% eosinophils, without basophilia. Isotopic exploration showed an increased total red blood cell mass. Cytogenetic analysis with R-banding technique on BM cells detected a t(5;12)(q23–31;p13) translocation in three metaphases among 24 analyzed (13%) (Table 1). The patient was treated by phlebotomy but dyspnea persisted, and prurit, paresthesia and headaches appeared. Three months later, a treatment by hydroxyurea was started. Bone marrow showed dystrophic megakaryocytes of the PV type. In May 2005, BM analysis showed increased eosinophilia (16%) and basophilia (10%), and on karyotype, four metaphases among 20 (20%) showed the t(5;12) translocation. In January 2006, 3.5 years after diagnosis, the patient is alive under hydroxyurea treatment, the white blood cell count is 9.6 × 109/l with 15% eosinophils and 15% basophils, hemoglobin level 16.5 and platelet count 484 × 109/l. The indication of allogenic transplantation is under discussion.

Table 1 Characteristics of the patients
Full size table

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

References

  1. Delaval B, Lelièvre H, Birnbaum D . Myeloproliferative disorders: the centrosome connection. Leukemia 2005; 19: 1739–1744.

    Article  CAS  Google Scholar 

  2. De Keersmaecker K, Cools J . Chronic myeloproliferative disorders: a tyrosine kinase tale. Leukemia 2006; 20: 200–205.

    Article  CAS  Google Scholar 

  3. Tefferi A, Gilliland DG . The JAK2 V617F tyrosine kinase mutation in myeloproliferative disorders: status report and immediate implications for disease classification and diagnosis. Mayo Clin Proc 2005; 80: 947–958.

    Article  CAS  Google Scholar 

  4. Cools J, Mentens N, Odero MD, Peeters P, Wlodarska I, Delforge M et al. Evidence for position effects as a variant ETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11–q12;p13) or t(5;12)(q31;p13). Blood 2002; 99: 1776–1784.

    Article  CAS  Google Scholar 

  5. Yahata N, Ohyashiki K, Ohyashiki JH, Kimura Y, Miyazawa K, Kodama A et al. Late appearance of t(5;12)(q31;p12) in acute myeloid leukemia associated with eosinophilia. Cancer Genet Cytogenet 1998; 107: 147–150.

    Article  CAS  Google Scholar 

  6. Yagasaki F, Jinnai I, Yoshida S, Yokoyama Y, Matsuda A, Kusumoto S et al. Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13). Genes Chromosomes Cancer 1999; 26: 192–202.

    Article  CAS  Google Scholar 

  7. Wlodarska I, La Starza R, Baens M, Dierlamm J, Uyttebroeck A, Selleslag D et al. Fluorescence in situ hybridization characterization of new translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies. Blood 1998; 91: 1399–1406.

    CAS  PubMed  Google Scholar 

  8. Murati A, Gelsi-Boyer V, Adélaïde J, Pérot C, Talmant P, Giraudier S et al. PCM1-JAK2 fusion in myeloproliferative disorders and acute erythroid leukemia with t(8;9) translocation. Leukemia 2005; 19: 1692–1696.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

This work has been supported by Institut Paoli-Calmettes, Inserm, Cancéropôles (IdF and PACA) and Institut National du Cancer (ACI 2005) and Association Laurette Fugain (2005). We thank Dr C Chabannon for the management of biological samples of the biobank.

Author information

Author notes

  1. A Murati and J Adélaïde: A Murati and J Adélaïde have equally contributed to this work.

Authors and Affiliations

  1. Département d’Oncologie Moléculaire, Institut de Cancérologie de Marseille, Institut Paoli-Calmettes et UMR599 Inserm, Marseille, France

    A Murati, J Adélaïde, V Gelsi-Boyer, A Etienne, V Rémy, S Olschwang, D Birnbaum, M Chaffanet & M J Mozziconacci

  2. Département de BioPathologie, Institut Paoli-Calmettes, Marseille, France

    A Murati, V Gelsi-Boyer, V Rémy, D Sainty, L Xerri, S Olschwang & M J Mozziconacci

  3. Université de la Méditerranée, Marseille, France

    V Gelsi-Boyer, D Sainty & L Xerri

  4. Département d’Hématologie, Institut Paoli-Calmettes, Marseille, France

    A Etienne & N Vey

  5. Service d’Oncologie-Hématologie Hôpital Font-Pré, Toulon, France

    H Fezoui

Authors
  1. A Murati
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J Adélaïde
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. V Gelsi-Boyer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A Etienne
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. V Rémy
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. H Fezoui
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. D Sainty
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. L Xerri
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. N Vey
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. S Olschwang
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. D Birnbaum
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. M Chaffanet
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. M J Mozziconacci
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Murati, A., Adélaïde, J., Gelsi-Boyer, V. et al. t(5;12)(q23–31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera. Leukemia 20, 1175–1178 (2006). https://doi.org/10.1038/sj.leu.2404194

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404194

Search

Advanced search

Quick links