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Ferrata Storti Foundation
Haematologica 2019 Volume 104(8):1580-1588
Myeloproliferative Neoplasms
Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before
20 years of age: a systematic review
Jean-Christophe Ianotto,1,2 Natalia Curto-Garcia,1 Marie Lauermanova,1,3 Deepti Radia,1 Jean-Jacques Kiladjian4 and Claire N. Harrison1
1Department of Haematology, Guy’s and St Thomas’ NHS Trust, London, UK; 2Service d’Hématologie Clinique, Institut de Cancéro-Hématologie, Centre Hospitalier Régional et Universitaire de Brest, Brest, France; 3Institute of Hematology and Blood Transfusion, Prague, Czech Republic and 4Centre d’Investigation Clinique, Hôpital St Louis, Paris, France
ABSTRACT
Although it is well known that myeloproliferative neoplasms occur in younger patients, few large cohorts of such patients have been reported. Thus, our knowledge about circumstances of diagnosis, outcome and treatment is limited, especially for children and young adults. We therefore performed a systematic review of cases, published since 2005, concerning patients aged below 20 years at the time of diagnosis of essen- tial thrombocythemia or polycythemia vera. We identified 396 cases of essential thrombocythemia and 75 of polycythemia vera. The median age at diagnosis was 9.3 and 12 years, respectively, and females constituted 57.6% and 45% of the groups, respectively. Half of the patients were asymptomatic at diagnosis. The proportion of so-called triple negativity was high: 57% in essential thrombocythemia and 73% in polycythemia vera. The incidence of thrombosis during the follow-up was 9.3% in patients with polycythemia vera and less, 3.8%, in those with essential thrombocythemia. Venous events were predominant (84.2%), with hemor- rhagic episodes being rarer (<5%). The risk of evolution also seemed low (2% to myelofibrosis and no reports of acute leukemia), but the median fol- low-up was only 50 months. Survival curves were not available. Half of the patients received an antithrombotic drug and 40.5% received a cytoreduc- tive drug. All data should be analyzed with care because of the proportion of missing data (10.7% to 74.7%). This review highlights interesting points concerning this population of young patients with myeloproliferative neo- plasms, including that such patients were identified as negative for all com- mon driver mutations, but also shows the need for larger contemporary cohorts with longer follow-up to assess the true prognosis of these patients.
Introduction
Essential thrombocythemia (ET) and polycythemia vera (PV) are the most preva- lent myeloproliferative neoplasms (MPN). However, the median age at diagnosis of both conditions is over 60 years. Patients with these diseases are particularly exposed to risks of thromboembolic events and evolution into more aggressive dis- orders (myelofibrosis, myelodysplastic syndromes and acute myeloid leukemia), with a consequent heavy burden of morbidity and mortality.1
Current clinical guidelines concerning the diagnosis and management of ET and PV are generally written for older patients and emphasize that testing for a driver mutation and a bone marrow biopsy are fundamental to diagnose an MPN and that treatment should be adapted according to a classification into low risk or high risk based on the patients’ age and history of thrombosis or hemorrhage (prescription of aspirin and cytoreductive drugs) in order to reduce the occurrence of thrombosis.2-4
Correspondence:
CLAIRE N HARRISON
claire.harrison@gstt.nhs.uk
Received: June 29, 2018. Accepted: January 21, 2019. Pre-published: January 24, 2019.
doi:10.3324/haematol.2018.200832
Check the online version for the most updated information on this article, online supplements, and information on authorship & disclosures: www.haematologica.org/content/104/8/1580
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