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Autologous reconstitution leading to sustained JAK2-V617F negativity post allogeneic hematopoietic stem cell transplant in JAK2-V617F positive myelofibrosis

Bone Marrow Transplantation volume 50, pages 1480–1482 (2015)Cite this article

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Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized by thrombocytosis and bone marrow megakaryocytic hyperplasia with the JAK2-V617F mutation in 50–60% of cases.1 It can progress to myelofibrosis (MF) and rarely to secondary AML. The only curable treatment modality is allogeneic hematopoietic cell transplantation (alloHSCT), especially for transformed disease. We report a patient who progressed to MF with myeloid metaplasia and had prolonged remission with clearing of the JAK2-V617F mutation despite graft failure and autologous reconstitution following an alloHSCT. After disease recurrence, she responded to a subsequent alloHSCT and is in remission.

A 51-year-old woman presented to our bone marrow transplant service for management of advanced stage MPN with MF and pancytopenia, originally classified as ET. The diagnosis of ET was made 10 years prior owing to the incidental finding of thrombocytosis. No bone marrow biopsy was performed; she was treated with anagrelide for 5 years. She developed transfusion-dependent anemia with splenomegaly measuring 26 cm on computerized tomography scan. Bone marrow aspiration and biopsy revealed a MPN with advanced MF with JAK2-V617F mutation positive (PCR amplification and pyrosequencing, RPCI Molecular Diagnostics lab, qualitative assay, sensitivity ⩾95%, revised as of 3/2012 to ⩾92%). Other molecular testing for BCR-ABL was negative.

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Authors and Affiliations

  1. Department of Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA

    P Torka, T Hahn, J Bertolo, H Liu, M Ross, P Paplham, G Chen & P McCarthy

  2. Department of Hematology-oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA

    A Jankowski

  3. Department of Pathology, Roswell Park Cancer Institute, Buffalo, NY, USA

    G Deeb

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  1. P Torka
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Correspondence to P McCarthy.

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Torka, P., Hahn, T., Bertolo, J. et al. Autologous reconstitution leading to sustained JAK2-V617F negativity post allogeneic hematopoietic stem cell transplant in JAK2-V617F positive myelofibrosis. Bone Marrow Transplant 50, 1480–1482 (2015). https://doi.org/10.1038/bmt.2015.169

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