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 Hematoljournal_title
International journal of hematologyauthors
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 MMdoi
10.1007/s12185-015-1759-3subject
Has Abstractpub_date
2015-07-01 00:00:00pages
140-3issue
1eissn
0925-5710issn
1865-3774journal_volume
102pub_type
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