Blood Res 2020; 55(1): 67-68  https://doi.org/10.5045/br.2020.55.1.67
Molecular screening for an underlying myeloproliferative neoplasm in patients with stroke: who and how?
Stephen E. Langabeer
Cancer Molecular Diagnostics, St. James’s Hospital, Dublin, Ireland
Correspondence to: Stephen E. Langabeer
Cancer Molecular Diagnostics, Trinity Translational Medicine Institute, St. James’s Hospital, Dublin D08 W9RT, Ireland
E-mail: slangabeer@stjames.ie
Received: February 17, 2020; Accepted: March 7, 2020; Published online: March 31, 2020.
© The Korean Journal of Hematology. All rights reserved.

cc This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
TO THE EDITOR

In a recent issue of Blood Research, Song and colleagues highlighted the number of patients with cerebral infarctions and either erythrocytosis or thrombocytosis in whom further investigation of a myeloproliferative neoplasm (MPN) was not sought [1]. Extrapolated globally, where the lifetime risk of stroke is approximately 25%, this seemingly small number of patients with an underlying MPN would represent a considerable proportion of worldwide stroke cases in which intervention with specific MPN-directed therapies, both established and novel, would be missed [2, 3].

This important finding raises some considerations. In addition to improved communication between hematologists and neurologists, would the authors suggest implementation and justification of an MPN-associated molecular screening programme for all patients with stroke, regardless of the presence of an erythrocytosis or thrombocytosis? Furthermore, the vast majority of MPN patients presenting with stroke have molecular evidence of the JAK2 V617F mutation, however rare cases harboring JAK2 exon 12, MPL exon 10 and CALR exon 9 mutations have been reported [4, 5, 6]. Would the authors therefore consider incorporating these other MPN-associated driver mutations into any molecular screening programme? As MPN-directed therapy should be regarded as an integral component of secondary stroke prevention [7], identification or exclusion of this underlying malignant cause should be a priority.

Authors' Disclosures of Potential Conflicts of Interest

No potential conflicts of interest relevant to this article were reported.

References
  1. Song IC, Choi YS, Shin JW, Song HJ, Kim J, Jo DY. Retrospective screening for Philadelphia-negative myeloproliferative neoplasms in patients with cerebral infarctions as revealed using the revised 2016 World Health Organization diagnostic criteria. Blood Res. 2019;54:284-285.
    Pubmed
  2. GBD 2016 Lifetime Risk of Stroke Collaborators. Global, regional, and country-specific lifetime risks of stroke, 1990 and 2016. N Engl J Med. 2018;379:2429-2437.
    Pubmed
  3. Economides MP, Verstovsek S, Pemmaraju N. Novel therapies in myeloproliferative neoplasms (MPN): beyond JAK inhibitors. Curr Hematol Malig Rep. 2019;14:460-468.
    Pubmed
  4. Anderson N, Bonsell K. Ischemic stroke as the presenting symptom in a young patient with essential thrombocythemia caused by CALR gene mutation. Neurology (AAN 67th Annual Meeting Abstracts. 2015;84(Suppl).
  5. Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008;112:141-149.
    Pubmed
  6. Pietra D, Li S, Brisci A, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood. 2008;111:1686-1689.
    Pubmed
  7. Stefanou MI, Richter H, Härtig F, et al. Recurrent ischaemic cerebrovascular events as presenting manifestations of myeloproliferative neoplasms. Eur J Neurol. 2019;26:903-e64.
    Pubmed


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