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.

AML, JMML, ML-DS, THPO, TMD
dx.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.L.M, Appel, I.M, Arentsen-Peters, T.C.J.M, … van den Heuvel-Eibrink, M.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