(en) To the Editor: There has been considerable interest in the study of inherited predisposition to myeloproliferative neoplasm (MPN) over the last two decades. Despite this, distinguishing sporadic MPN from familial MPN and hereditary erythrocytosis/thrombocytosis remains a diagnostic challenge [...].
Carreño-Tarragona, G., Varghese, L., Sebastián, E., Gálvez, E., Marín-Sánchez, A., López-Muñoz, N., Nam-Cha, S., Martínez-López, J., Constantinescu, S., Sevilla, J., & Ayala, R. (2021). A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline. Leukemia, 35(11), 3295-3298. https://doi.org/10.1038/s41375-021-01239-9 (Original work published 2021)