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Myeloproliferative Neoplasms in Children and Adolescents and Thrombosis at Unusual Sites

The Role of Driver Mutations

Tafesh, Laith MBBS*; Musgrave, Kathryn MBBS*,†; Roberts, Wing MBBS*; Plews, Dianne MBChB; Carey, Peter MBBS*; Biss, Tina BMBS, MD*

Journal of Pediatric Hematology/Oncology: August 2019 - Volume 41 - Issue 6 - p 490–493
doi: 10.1097/MPH.0000000000001173
Clinical and Laboratory Observations

Myeloproliferative neoplasms (MPNs) in childhood and adolescence are rare and seldom complicated by thrombosis. We describe 3 cases of thrombosis at unusual sites in young patients with MPNs. In the pediatric MPN population, unlike in adult MPNs, a clonal mutation is identifiable in only a minority of cases (22% to 26%). All 3 of these individuals had JAK2 mutations driving the disease process. A literature search identified 19 cases of MPN-associated thrombosis in children. Seventeen of the 19 children (89.5%) had a driver mutation. These cases suggest that identifiable driver mutations may confer an increased thrombotic risk in children with MPNs.

*Department of Haematology, The Newcastle Upon Tyne Hospitals NHS Foundation Trust

Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne

Department of Haematology, South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK

D.P. reports honorarium for lecturing from Pharmocosmos, outside the submitted work. L.T. reports financial sponsorship from Biotest, outside the submitted work. T.B. reports payment received from Bayer plc, outside the submitted work. The remaining authors declare no conflict of interest.

Reprints: Laith Tafesh, MBBS, Freeman Hospital, Freeman Road, Newcastle Upon Tyne NE7 7DN, UK (e-mails:;

Received January 29, 2018

Accepted March 20, 2018

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