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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.


Maite E Houwing, Eva A Koopman-Coenen, Rogier Kersseboom, Saskia Gooskens, Inge M Appel, Susan T C J M Arentsen-Peters, Andrica C H de Vries, Dirk Reinhardt, Jan Stary, André Baruchel, Valerie de Haas, Marjolein Blink, Rob H Lopes Cardozo, Rob Pieters, C Michel Zwaan, Marry M van den Heuvel-Eibrink. Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias. International journal of hematology. 2015 Jul;102(1):140-3

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PMID: 25728710

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