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Case Reports in Hematology
Volume 2015, Article ID 703457, 4 pages
Case Report

Evading Capture by Residual Disease Monitoring: Extramedullary Manifestation of JAK2 V617F-Positive Primary Myelofibrosis After Allogeneic Stem Cell Transplantation

1Cancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, Ireland
2Department of Haematology, St. James’s Hospital, Dublin 8, Ireland
3Department of Histopathology, St. James’s Hospital, Dublin 8, Ireland

Received 15 June 2015; Revised 17 July 2015; Accepted 22 July 2015

Academic Editor: Ramon Tiu

Copyright © 2015 Stephen E. Langabeer et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Monitoring of the JAK2 V617F allele burden in myeloproliferative neoplasms after allogeneic stem cell transplantation is useful to determine levels of residual disease and has the potential to detect early relapse and guide subsequent clinical intervention. A case is described of a JAK2 V617F-positive primary myelofibrosis patient who underwent allogeneic stem cell transplantation. Prospective residual disease monitoring of the peripheral blood failed to detect an extramedullary manifestation of the disease, a periorbital myeloid sarcoma, arising nearly three years after transplant. This case serves to highlight a pitfall in residual disease monitoring for myeloproliferative neoplasm-associated mutations in the post-allogeneic stem cell transplantation setting.