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Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera
Author(s) -
Cario Holger,
Schwarz Klaus,
Herter Jan M.,
Komrska Vladimir,
McMullin Mary F.,
Minkov Milen,
Niemeyer Charlotte,
Pospisilova Dagmar,
Reinhard Harald,
Debatin KlausMichael,
Pahl Heike L.
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07220.x
Subject(s) - polycythemia vera , medicine , cohort , pediatrics , cohort study
Summary 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.