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A t(8;9) translocation with PCM1-JAK2 fusion in a patient with T-cell lymphoma

Leukemia volume 20, pages 536–537 (2006)Cite this article

Two types of structural alterations of the JAK2 kinase – point mutation and rearrangement following t(8;9) translocation – have been recently found in myeloproliferative disorders and acute leukaemias.1, 2, 3, 4, 5 We now report the characterisation of a t(8;9)(p22;p24) with PCM1-JAK2 gene fusion in a T-cell lymphoma.

A 40-year-old man was referred to the haematological unit for cervical and axillar lymphadenopathy in September 1998. He presented with large peripheral lymphadenopathies in all areas; the ECOG score was 4. The leukocyte count, haemoglobin level and platelet count were normal as well as LDH. The computed tomography scan of thorax, abdomen and pelvis showed small retroperitoneal lymphadenopathies. The lymph-node biopsy showed infiltration with abnormal CD2+, CD3+, CD7+, CD4−, CD5−, CD8−, CD1A low lymphocytes, with a high index of proliferation. Bone marrow (BM) aspiration and biopsy were normal. The diagnosis was lymphoblastic T lymphoma IIIBa. Induction chemotherapy based on acute lymphoblastic leukaemia (ALL) chemotherapy (association of vincristin, anthracyclin, cyclophosphamide and steroid) allowed complete remission (CR). The patient received four courses of consolidation chemotherapy, 18-gray central nervous system radiotherapy and 2 year-maintenance chemotherapy. Peripheral blood stem cells were collected and stored after chemotherapy and G-CSF. Six years after CR and 38 months after the end of the chemotherapy, the patient presented a relapse with lymphadenopathies without central nervous or BM localisation. Cytogenetic analysis on BM cells after 24 h culture showed a t(8;9) translocation as a sole abnormality in 16/29 metaphases. A novel lymph-node biopsy confirmed the relapse of T lymphoblastic lymphoma with a TDT+, CD2+, CD3+, CD4−, CD5+, CD7+, CD8−, CD10−, CD30−, CD1A−, KIT− phenotype, and P53 moderate overexpression. A high mitotic activity was evidenced with MIB1 antibody. The search for an association with Epstein–Barr virus was negative with LMP antibody. A second CR was obtained after ALL-like induction chemotherapy with the same drugs plus L-asparaginase. After three courses of consolidation including high doses aracytine and methotrexate, autologous stem cell transplantation was done in February 2005. The patient is still in CR 7 months after the graft and the karyotype established on BM in June 2005 was normal on 30 metaphases.

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References

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Acknowledgements

This work has been supported by Institut Paoli-Calmettes, Inserm and grants from Laurette Fugain Association and from Ministries of Health and Research (Cancéropôle).

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Authors and Affiliations

  1. Département d'Oncologie Moléculaire, Institut de Cancérologie de Marseille, Institut Paoli-Calmettes and U599 Inserm, Marseille, France

    J Adélaïde, V Gelsi-Boyer, A Murati, M Chaffanet, D Birnbaum & M-J Mozziconacci

  2. Laboratoire de Cytogénétique, Hôpital Saint-Antoine, Paris, France

    C Pérot

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

    V Gelsi-Boyer, A Murati & M-J Mozziconacci

  4. Université de la Méditerranée, Marseille, France

    V Gelsi-Boyer

  5. Service d'Hématologie Clinique, Hôpital Henri Mondor, Créteil, France

    C Pautas

  6. Département de Pathologie, Hôpital Henri Mondor, Créteil, France

    C Copie-Bergman

  7. Laboratoire d'Hématologie, Hôpital Henri Mondor, Créteil, France

    M Imbert

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  1. J Adélaïde
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Correspondence to M-J Mozziconacci.

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Adélaïde, J., Pérot, C., Gelsi-Boyer, V. et al. A t(8;9) translocation with PCM1-JAK2 fusion in a patient with T-cell lymphoma. Leukemia 20, 536–537 (2006). https://doi.org/10.1038/sj.leu.2404104

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