Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera.
Br J Haematol
; 142(4): 622-6, 2008 Aug.
Article
em En
| MEDLINE
| ID: mdl-18557746
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Policitemia Vera
/
Janus Quinase 2
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Alemanha