Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera

被引：26

作者：

Cario, Holger ^{[1
]}

Schwarz, Klaus ^{[2
,3
]}

Herter, Jan M. ^{[4
]}

Komrska, Vladimir ^{[5
,6
]}

McMullin, Mary F. ^{[7
]}

Minkov, Milen ^{[8
]}

Niemeyer, Charlotte ^{[9
]}

Pospisilova, Dagmar ^{[10
]}

Reinhard, Harald ^{[11
]}

Debatin, Klaus-Michael ^{[1
]}

Pahl, Heike L. ^{[4
]}

机构：

[1] Univ Hosp Ulm, Dept Paediat, D-89075 Ulm, Germany

[2] Univ Hosp Ulm, Inst Transfus Med, Ulm, Germany

[3] Inst Clin Transfus Med & Immunogenet, Ulm, Germany

[4] Univ Hosp Freiburg, Dept Expt Anaesthesiol, Freiburg, Germany

[5] Charles Univ Prague, Fac Med, Dept Paediat Haematol Oncol, Prague, Czech Republic

[6] Univ Hosp Motol, Prague, Czech Republic

[7] Queens Univ Belfast, Dept Haematol, Belfast City Hosp, Belfast, Antrim, North Ireland

[8] St Anna Childrens Hosp, A-1090 Vienna, Austria

[9] Univ Freiburg, Div Paediat Haematol & Oncol, Dept Paediat & Adolescent Med, Freiburg, Germany

[10] Palacky Univ, Fac Med, Clin Paediat, CR-77147 Olomouc, Czech Republic

[11] Univ Hosp Homburg, Dept Paediat Haematol & Oncol, Homburg, Germany

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2008年 / 142卷 / 04期

关键词：

polycythemia vera; erythrocytosis; childhood; molecular analysis; Budd-Chiari syndrome;

D O I：

10.1111/j.1365-2141.2008.07220.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：622 / 626

页数：5

共 13 条

[1] Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].

Baxter, EJ ;

Scott, LM ;

Campbell, PJ ;

East, C ;

Fourouclas, N ;

Swanton, S ;

Vassiliou, GS ;

Bench, AJ ;

Boyd, EM ;

Curtin, N ;

Scott, MA ;

Erber, WN ;

Green, AR .

LANCET, 2005, 365 (9464) :1054-1061

[2] Familial polycythemia vera with Budd-Chiari syndrome in childhood [J].

Cario, H ;

Pahl, HL ;

Schwarz, K ;

Galm, C ;

Hoffmann, M ;

Burdelski, M ;

Kohne, E ;

Debatin, KM .

BRITISH JOURNAL OF HAEMATOLOGY, 2003, 123 (02) :346-352

[3]

Cobo F, 1996, MED CLIN-BARCELONA, V107, P660

[4] PRV-1 mRNA expression discriminates two types of essential thrombocythemia [J].

Griesshammer, M ;

Klippel, S ;

Strunck, E ;

Temerinac, S ;

Mohr, U ;

Heimpel, H ;

Pahl, HL .

ANNALS OF HEMATOLOGY, 2004, 83 (06) :364-370

[5]

HANN HWL, 1979, CANCER, V43, P1862, DOI 10.1002/1097-0142(197905)43:5<1862::AID-CNCR2820430540>3.0.CO

[6]

2-K

[7] Hematologic aspects of liver transplantation for Budd-Chiari syndrome with special reference to myeloproliferative disorders [J].

Melear, JM ;

Goldstein, RM ;

Levy, MF ;

Molmenti, EP ;

Cooper, B ;

Netto, GJ ;

Klintmalm, GB ;

Stone, MJ .

TRANSPLANTATION, 2002, 74 (08) :1090-1095

[8] Stem cell transplantation for polycythemia vera [J].

Reinhard, Herald ;

Klingebiel, Thomas ;

Lang, Peter ;

Bader, Peter ;

Niethammer, Dietrich ;

Graf, Norbert .

PEDIATRIC BLOOD & CANCER, 2008, 50 (01) :124-126

[9]

ROTH M, 1990, MED KLIN, V85, P529

[10] JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis [J].

Scott, Linda M. ;

Tong, Wei ;

Levine, Ross L. ;

Scott, Mike A. ;

Beer, Philip A. ;

Stratton, Michael R. ;

Futreal, P. Andrew ;

Erber, Wendy N. ;

McMullin, Mary Frances ;

Harrison, Claire N. ;

Warren, Alan J. ;

Gilliland, D. Gary ;

Lodish, Harvey F. ;

Green, Anthony R. .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (05) :459-468

← 1 2 →