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Chronic myeloproliferative neoplasms

A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline

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Fig. 1: Family pedigree with clinical and sequencing information of each of the family members.
Fig. 2: Dual luciferase assay for STAT5 transcription activity of R683G mutants and its sensitivity to ruxolitinib.


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This study was supported by the Subdirección General de Investigación Sanitaria (Instituto de Salud Carlos III, Spain) grant PI19/01518, the CRIS against Cancer foundation, grant 2018/001, and by the Instituto de Investigación Hospital 12 de Octubre (IMAS12). Funding to SNC is acknowledged from Ludwig Institute for Cancer Research, Fondation contre le cancer, Salus Sanguinis and Fondation “Les avions de Sébastien”, projects Action de recherché concertée (ARC) 16/21-073 and WelBio F 44/8/5 - MCF/UIG – 10955. The Ethics Committee of the Hospital Universitario 12 de Octubre approved the study protocol (N° CEI 20/436) and subjects consent was obtained.

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Correspondence to Stefan N. Constantinescu or Rosa Ayala.

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Carreño-Tarragona, G., Varghese, L.N., Sebastián, E. et al. A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline. Leukemia (2021).

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