We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age. In order to investigate whether somatic THPO gene mutations play a role in sporadic pediatric myeloproliferative diseases, we performed a mutation screening of a large representative cohort of pediatric acute myeloid leukemia, myeloid leukemia of Down syndrome, and juvenile myelomonocytic leukemia samples and show that gain-of-function THPO mutations are extremely rare in sporadic pediatric myeloproliferative diseases.

, , , ,
doi.org/10.1007/s12185-015-1759-3, hdl.handle.net/1765/87779
International Journal of Hematology
Department of Pediatrics

Houwing, M. E., Koopman-Coenen, E. A., Kersseboom, R., Gooskens, S., Appel, I., Arentsen-Peters, S., … van den Heuvel-Eibrink, M. (2015). Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias. International Journal of Hematology, 102(1), 140–143. doi:10.1007/s12185-015-1759-3