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Case Reports in Hematology
Volume 2016, Article ID 6545861, 5 pages
http://dx.doi.org/10.1155/2016/6545861
Case Report

Acute Lymphoblastic Leukemia Arising in CALR Mutated Essential Thrombocythemia

1Cancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, Ireland
2Department of Haematology, St. James’s Hospital, Dublin 8, Ireland
3Department of Clinical Genetics, Our Lady’s Children’s Hospital, Dublin 12, Ireland
4Department of Histopathology, St. James’s Hospital, Dublin 8, Ireland

Received 8 December 2015; Revised 6 January 2016; Accepted 10 January 2016

Academic Editor: Eduardo Arellano-Rodrigo

Copyright © 2016 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.

Abstract

The development of acute lymphoblastic leukemia in an existing myeloproliferative neoplasm is rare with historical cases unable to differentiate between concomitant malignancies or leukemic transformation. Molecular studies of coexisting JAK2 V617F-positive myeloproliferative neoplasms and mature B cell malignancies indicate distinct disease entities arising in myeloid and lymphoid committed hematopoietic progenitor cells, respectively. Mutations of CALR in essential thrombocythemia appear to be associated with a distinct phenotype and a lower risk of thrombosis yet their impact on disease progression is less well defined. The as yet undescribed scenario of pro-B cell acute lymphoblastic leukemia arising in CALR mutated essential thrombocythemia is presented. Intensive treatment for the leukemia allowed for expansion of the original CALR mutated clone. Whether CALR mutations in myeloproliferative neoplasms predispose to the acquisition of additional malignancies, particularly lymphoproliferative disorders, is not yet known.