Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias.

Abstract:

: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.

journal_name

Int J Hematol

authors

Houwing ME,Koopman-Coenen EA,Kersseboom R,Gooskens S,Appel IM,Arentsen-Peters ST,de Vries AC,Reinhardt D,Stary J,Baruchel A,de Haas V,Blink M,Lopes Cardozo RH,Pieters R,Michel Zwaan C,van den Heuvel-Eibrink MM

doi

10.1007/s12185-015-1759-3

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

140-3

issue

1

eissn

0925-5710

issn

1865-3774

journal_volume

102

pub_type

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