Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias

International Journal of Hematology
Maite E HouwingMarry M van den Heuvel-Eibrink

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.

References

Sep 1, 1996·Acta Paediatrica·P J van DijkenJ P van Wouwe
Oct 8, 2005·Seminars in Hematology·Radek Skoda, Josef T Prchal
Oct 22, 2009·Molecular Therapy : the Journal of the American Society of Gene Therapy·Daniel C WickeUte Modlich
Apr 12, 2011·Cell Cycle·Carolyn A de Graaf, Donald Metcalf
Jul 20, 2011·Journal of Pediatric Hematology/oncology·Brent A WilliamsJohann K Hitzler
Dec 14, 2011·Critical Reviews in Oncogenesis·Irum KhanJohn Crispino
Sep 13, 2012·British Journal of Haematology·Alan S Gamis, Franklin O Smith

❮ Previous
Next ❯

Citations

Sep 27, 2016·Pediatric Blood & Cancer·Eline J M BertrumsMarry M van den Heuvel-Eibrink
Mar 14, 2021·Annals of Hematology·Clemens StockklausnerUNKNOWN THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrisch

❮ Previous
Next ❯

Related Concepts

Related Feeds

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease with approximately 20,000 cases per year in the United States. AML also accounts for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. Here is the latest research on this disease.

AML: Role of LSD1 by CRISPR (Keystone)

Find the latest rersearrch on the ability of CRISPR-Cas9 mutagenesis to profile the interactions between lysine-specific histone demethylase 1 (LSD1) and chemical inhibitors in the context of acute myeloid leukemia (AML) here.