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.
- MeSH
- dítě MeSH
- exony MeSH
- GPI-vázané proteiny MeSH
- isoantigeny genetika MeSH
- Janus kinasa 2 * genetika metabolismus MeSH
- kohortové studie MeSH
- lidé MeSH
- membránové glykoproteiny genetika MeSH
- messenger RNA metabolismus MeSH
- mladiství MeSH
- mutace MeSH
- polycythaemia vera diagnóza genetika MeSH
- polymerázová řetězová reakce MeSH
- prospektivní studie MeSH
- receptory buněčného povrchu genetika MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
