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Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera

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Abstract

In 2007, a 27-year-old woman presented with mild splenomegaly. Blood counts showed hemoglobin (Hb): 17.8 g/dl, HCT: 56% and Red blood cells: 6.45 × 1012/L. Bone marrow examination disclosed a hypercellular marrow. Molecular analysis showed the presence of the JAK2 V617F mutation and BCR-ABL/BCR mRNA b3a2 transcript. A diagnosis of BCR-ABL-positive polycythemia vera (PV) was made. In 2009, she had nulipar pregnancy and treated with interferon-alpha. She delivered a healthy girl infant at 37 weeks. This case report suggests that in a PV pregnant woman with a concomitant presence of JAK2 V617F mutation and BCR-ABL translocation, the administration of interferon during the pregnancy could lead to a safe pregnancy and delivery.

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References

  1. Baxter EJ, et al. Acquired mutation of thetyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054–61.

    PubMed  CAS  Google Scholar 

  2. Levine RL, et al. Activating mutation in thetyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387–97.

    Article  PubMed  CAS  Google Scholar 

  3. Tefferi A. JAK2 mutations in polycythemia vera—molecular mechanisms and clinical applications. New Eng J Med. 2007;356:444–5.

    Article  PubMed  CAS  Google Scholar 

  4. Cambier N, et al. JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders. Leukemia. 2008;22:1454–5.

    Article  PubMed  CAS  Google Scholar 

  5. Mirza I, Frantz C, Clarke G, Voth A, Turner R. Transformation of polycythemia vera to chronic myelogenous leukemia. Arch Pathol Lab Med. 2007;131:1719–24.

    PubMed  CAS  Google Scholar 

  6. Ping CB, Gan GG, Nadarajan VS, Latiff NA, Menaka N. A man with concomitant polycythaemia vera and chronic myeloid leukemia: the dynamics of the two disorders. Int J Hematol. 2010;91:136–9.

    Article  Google Scholar 

  7. Pingali S, Mathiason M, Lovrich S, Ronald S. Emergence of chronic myelogenous leukemia from a background of myeloproliferative disorder: JAK2V617F as a potential risk factor for BCR-ABL translocation. Clin Lymphoma Myeloma. 2009;9:25–9.

    Article  Google Scholar 

  8. Centrone AL, Freda RN, McGowan L. Polycythemia rubra vera in pregnancy. Obstet Gynecol. 1967;30:657–9.

    PubMed  CAS  Google Scholar 

  9. Harris RE, Conrad FG. Polycythemia vera in the childbearing age. Arch Intern Med. 1967;120:697–700.

    Article  PubMed  CAS  Google Scholar 

  10. Pata O, et al. Polycythemia vera and pregnancy: a case report with the use of hydroxyurea in the first trimester. Am J Perinatol. 2004;21:135–7.

    Article  PubMed  Google Scholar 

  11. Hochman A, Stein JA. Polycythemia and pregnancy. Report of a case. Obstet Gynecol. 1961;18:230–5.

    PubMed  CAS  Google Scholar 

  12. Ferguson JE 2nd, Ueland K, Aronson WJ. Polycythemia rubra vera and pregnancy. Obstet Gynecol. 1983;62:16s–20s.

    PubMed  Google Scholar 

  13. Jones AV, et al. Widespread occurrence of the JAK2V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106:2162–8.

    Article  PubMed  CAS  Google Scholar 

  14. Yaghmaie M, et al. Frequency of BCR-ABL fusion transcripts in Iranian patients with chronic myeloid leukemia. Arch Iran Med. 2008;11:247–51.

    PubMed  CAS  Google Scholar 

  15. Tefferi A, Solberg LA, Silverstein MN. A clinical up date in polycythemia vera and essential thrombocythemia. Am J Med. 2000;109:141–9.

    Article  PubMed  CAS  Google Scholar 

  16. James C, et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia. 2006;20:350–3.

    Article  PubMed  CAS  Google Scholar 

  17. Saviola A, et al. Transition of polycythemia vera to chronic myeloid leukaemia. Eur J Haematol. 2005;75:264–6.

    Article  PubMed  Google Scholar 

  18. Jantunen E, Nousiainen T. Ph-positive chronic myelogenous leukemia evolving after polycythemiavera. Am J Hematol. 1991;37:212.

    Article  PubMed  CAS  Google Scholar 

  19. Hoppin EC, Lewis JP. Polycythemia rubra vera progressing to Ph-positive chronic myelogenous leukemia. Ann Intern Med. 1975;83:820–3.

    PubMed  CAS  Google Scholar 

  20. Haq AU. Transformation of polycythemia vera to Ph-positive chronic myelogenous leukemia. Am J Hematol. 1990;35:110–3.

    Article  PubMed  CAS  Google Scholar 

  21. Mercier E, Lissalde-Lavigne G, Gris J. JAK2 V617F mutation in unexplained loss of first pregnancy. N Engl J Med. 2007;19:357.

    Google Scholar 

  22. Plo I, et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood. 2008;112:1402–12.

    Article  PubMed  CAS  Google Scholar 

  23. Xie S, et al. Involvement of Jak2 tyrosine phosphorylation in bcrabl transformation. Oncogene. 2001;20:6188–95.

    Article  PubMed  CAS  Google Scholar 

  24. Morris CM, et al. Essential thrombocythemia and the Philadelphia chromosome. Br J Haematol. 1998;70:13–7.

    Article  Google Scholar 

  25. Martiat P, et al. Molecular analysis of Philadelphia positive essential thrombocythemia. Leukemia. 1989;3:563–8.

    PubMed  CAS  Google Scholar 

  26. Sarode R, Marwaha N, Gupta RK, Garewal G. Philadelphia chromosome in essential thrombocythaemia? (letter). Am J Hematol. 1989;30:45.

    Article  PubMed  CAS  Google Scholar 

  27. Stoll DB, et al. Clinical presentation and natural history of patients with essential thrombocythemia and the Philadelphia chromosome. Am J Hematol. 1998;27:77–83.

    Article  Google Scholar 

  28. Blickstein D, et al. BCR-ABL transcripts in bone marrow aspirates of Philadelphia-negative essential thrombocythemia patients: clinical presentation. Blood. 1997;90:2768–71.

    PubMed  CAS  Google Scholar 

  29. Hsu HC. Detrction of bcr-abl gene expression at a low level in blood cells of some patients with essential thrombocythemia. J Lab Clin Med. 2004;143:125–9.

    Article  PubMed  CAS  Google Scholar 

  30. Kwong YL, Chiu EK, Liang RH, Chan V, Chan TK. Essential thrombocythemia with BCR/ABL rearrangement. Cancer Genet Cytogenet. 1996;89:74–6.

    Article  PubMed  CAS  Google Scholar 

  31. Aviram A, et al. Significance of BCR-ABL transcripts in bone marrow aspirates of Philadelphia-negative essential thrombocythemia patients. Leuk Lymphoma. 1999;33:77–82.

    PubMed  CAS  Google Scholar 

  32. Curtin NJ, Campbell PJ, Green AR. The Philadelphia translocation and pre-existing myeloproliferative disorders. Br J Haematol. 2005;128:734–6.

    Article  PubMed  CAS  Google Scholar 

  33. Bornhaüser M, et al. Concurrent JAK2 (V617F) mutation and BCR-ABL translocation within committed myeloid progenitors in myelofibrosis. Leukemia. 2007;21:1824–6.

    Article  PubMed  Google Scholar 

  34. Hussein K, et al. Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation. Blood. 2007;109:4106–7.

    Article  PubMed  CAS  Google Scholar 

  35. Griesshammer M, Struve S, Harrison CM. Essential thrombocythemia/polycythemia vera and pregnancy: the need for an observational study in Europe. Semin Thromb Hemost. 2006;32:422–9.

    Article  PubMed  Google Scholar 

  36. Robinson S, Bewley S, Hunt B, Radia D, Harrison C. The management and outcome of 18 pregnancies in women with polycythemia vera. Haematologica. 2005;90:1477–83.

    PubMed  Google Scholar 

  37. Passamonti F, et al. Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V_F) mutation. Blood. 2007;110:485–9.

    Article  PubMed  CAS  Google Scholar 

  38. Wright CA, Tefferi A. A single institutional experience with 43 pregnancies in essential thrombocythemia. Eur J Haematol. 2001;66:152–9.

    Article  PubMed  CAS  Google Scholar 

  39. Bangerter M, et al. Pregnancy in essential thrombocythaemia: treatment and outcome of 17 pregnancies. Eur J Haematol. 2000;65:165–9.

    Article  PubMed  CAS  Google Scholar 

  40. Celiloglu M, Altnyurt S, Undar B. Hydroxyurea treatment for chronic myeloid leukemia during pregnancy. Acta Obstet Gyne Scand. 2000;79:803–4.

    CAS  Google Scholar 

  41. Fadilah SA, Ahmad-Zailani H, Soon-Keng C, Norlaila M. Successful treatment of chronic myeloid leukemia during pregnancy with hydroxyurea. Leukemia. 2002;16:1202–3.

    Article  PubMed  CAS  Google Scholar 

  42. Thauvin-Robinet C, et al. Exposure to hydroxyurea during pregnancy: a case series. Leukemia. 2001;15:1309–11.

    Article  PubMed  CAS  Google Scholar 

  43. Baykal C, Zengin N, Coskun F, Guler N, Ayhan A. Use of hydroxyurea and alpha-interferon in chronic myeloid leukemia during pregnancy: a case report. Eur J Gynaecol Oncol. 2000;21:89–99.

    PubMed  CAS  Google Scholar 

  44. Vianelli N, et al. Interferon-a2a treatment in a pregnant woman with essential thrombocythaemia. Blood. 1994;83:874–5.

    PubMed  CAS  Google Scholar 

  45. Thornley S, Manoharan A. Successful treatment of essential thrombocythaemia with alpha interferon during pregnancy. Eur J Haematol. 1994;52:63–4.

    Article  PubMed  CAS  Google Scholar 

  46. Williams JM, Schlesinger PE, Gray AG. Successful treatment of essential thrombocythaemia and recurrent abortion with alpha interferon. Br J Haematol. 1994;88:647–8.

    Article  PubMed  CAS  Google Scholar 

  47. Delage R, Demers C, Cantin G, Roy J. Treatment of essential thrombocythemia during pregnancy with interferon alpha. Obstet Gynecol. 1996;87:814–7.

    PubMed  CAS  Google Scholar 

  48. Milano V, et al. Successful treatment of essential thrombocythemia in a pregnancy with recombinant interferon-alpha 2a. J Matern Fetal Med. 1996;5:74–8.

    Article  PubMed  CAS  Google Scholar 

  49. Pardini S, et al. Alpha 2b-interferon therapy and pregnancy: report of a case of essential thrombocythaemia. Am J Hematol. 1993;43:78–9.

    Article  PubMed  CAS  Google Scholar 

  50. Kiladjian J, et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood. 2008;112:3065–72.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgment

We would like to thank Hematology-Oncology and BMT Research Center, Imam Khomeini Hospital for assistance in providing sample and patient information.

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Authors and Affiliations

  1. Hematology-Oncology and BMT Research Center, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran

    Gholamreza Toogeh

  2. Hematology, Molecular Genetics, Cancer Research Center, Cancer Institute, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran

    Shirin Ferdowsi

  3. Pathology Department, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Fatemeh Naadali

  4. Hematology-Oncology and BMT Research Center, Shariati Hospital, Tehran University of Medical Sciences, Kargar Street, 11411, Tehran, Iran

    Kamran Alimoghaddam, Ardeshir Ghavamzadeh & Seyed H. Ghaffari

  5. Molecular Genetics, Cancer Research Center, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran

    Reza Shirkoohi

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  1. Gholamreza Toogeh
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  2. Shirin Ferdowsi
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  3. Fatemeh Naadali
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  4. Kamran Alimoghaddam
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  7. Seyed H. Ghaffari
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Corresponding author

Correspondence to Seyed H. Ghaffari.

Additional information

Gholamreza Toogeh and Shirin Ferdowsi are equally contributed to this work. Supported by grant to Dr Seyed H. Ghaffari from Hematology, Oncology and BMT Research Center, Tehran University of Medical Sciences.

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Toogeh, G., Ferdowsi, S., Naadali, F. et al. Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. Med Oncol 28, 1555–1558 (2011). https://doi.org/10.1007/s12032-010-9570-8

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  • DOI: https://doi.org/10.1007/s12032-010-9570-8

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