Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias
| Autor: | C. Michel Zwaan, Inge M. Appel, Maite E. Houwing, Valerie de Haas, Jan Stary, Susan T.C.J.M. Arentsen-Peters, Marjolein Blink, Andrica C H de Vries, Dirk Reinhardt, Eva A. Koopman-Coenen, Rogier Kersseboom, Saskia L. Gooskens, Marry M. van den Heuvel-Eibrink, Rob Pieters, Rob H. Lopes Cardozo, André Baruchel |
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| Přispěvatelé: | Pediatrics, Clinical Genetics |
| Rok vydání: | 2015 |
| Předmět: |
Male
Down syndrome Myeloid Medizin Gene mutation Germline hemic and lymphatic diseases Humans Medicine Familial thrombocytosis Germ-Line Mutation Thrombopoietin Juvenile myelomonocytic leukemia business.industry Infant Myeloid leukemia Hematology medicine.disease Pedigree medicine.anatomical_structure Leukemia Myeloid Mutation Immunology Cancer research Female RNA Splice Sites business |
| Zdroj: | International Journal of Hematology, 102(1), 140-143. Springer Japan |
| ISSN: | 0925-5710 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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