| Literature DB >> 18557746 |
Holger Cario1, Klaus Schwarz, Jan M Herter, Vladimir Komrska, Mary F McMullin, Milen Minkov, Charlotte Niemeyer, Dagmar Pospisilova, Harald Reinhard, Klaus-Michael Debatin, Heike L Pahl.
Abstract
The clinical, haematological, molecular and treatment data of eight paediatric patients with polycythemia vera (PV) were collected prospectively. One patient developed PV after treatment for large-cell anaplastic lymphoma. Budd-Chiari syndrome was diagnosed in two patients, necessitating orthotopic liver transplantation in one and transjugular portosystemic shunting in the other. The remaining patients presented with non-specific symptoms. Endogenous erythroid colonies were detected in all cases examined. The JAK2(V617F) mutation was found in six patients; two patients displayed JAK2 exon 12 mutations, including one novel mutation (JAK2(H538-K539delinsI)). CD177 (PRV-1) mRNA expression was increased in three of five patients tested.Entities:
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Year: 2008 PMID: 18557746 PMCID: PMC4120186 DOI: 10.1111/j.1365-2141.2008.07220.x
Source DB: PubMed Journal: Br J Haematol ISSN: 0007-1048 Impact factor: 6.998