Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele

被引：164

作者：

Guglielmelli, Paola ^{[1
,2
]}

Barosi, Giovanni ^{[3
]}

Specchia, Giorgina ^{[4
]}

Rambaldi, Alessandro ^{[5
]}

Lo Coco, Francesco ^{[6
]}

Antonioli, Elisabetta ^{[1
,2
]}

Pieri, Lisa ^{[1
,2
]}

Pancrazzi, Alessandro ^{[1
,2
]}

Ponziani, Vanessa ^{[1
,2
]}

Delaini, Federica ^{[5
]}

Longo, Giovanni ^{[1
,2
]}

Ammatuna, Emanuele ^{[6
]}

Liso, Vincenzo ^{[4
]}

Bosi, Alberto ^{[1
,2
]}

Barbui, Tiziano ^{[5
]}

Vannucchi, Alessandro M. ^{[1
,2
]}

机构：

[1] Univ Florence, UF Ematol, Dipartimento Area Crit, I-50134 Florence, Italy

[2] Ist Toscano Tumori, Florence, Italy

[3] Policlin San Matteo, Fdn Ist Ricovero & Cura Carattere Sci, Clin Epidemiol Unit, I-27100 Pavia, Italy

[4] Univ Bari, Dipartimento Ematol, Bari, Italy

[5] Osped Riuniti Bergamo, Div Ematol, I-24100 Bergamo, Italy

[6] Univ Roma Tor Vergata, Dipartimento Biopatol & Diagnost Immagini, Rome, Italy

来源：

BLOOD | 2009年 / 114卷 / 08期

关键词：

PROGNOSTIC SCORING SYSTEM; TYROSINE KINASE JAK2; MYELOID METAPLASIA; POLYCYTHEMIA-VERA; MYELOPROLIFERATIVE DISORDERS; ESSENTIAL THROMBOCYTHEMIA; ACTIVATING MUTATION; LIFE EXPECTANCY; DISEASE; INDIVIDUALS;

D O I：

10.1182/blood-2009-04-216044

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A total of 186 patients with primary myelofibrosis (PMF) were genotyped for JAK2V617F at diagnosis aimed at analyzing the correlation of mutational status and mutated allele burden with outcome variables, including time to anemia, leukocytosis, leukopenia, thrombocytopenia, massive splenomegaly, leukemia, and with overall survival. A total of 127 JAK2V617F-mutated patients (68% of whole series) were divided in quartiles of V617F allele burden. After a median follow-up of 17.2 months, 23 patients died, 15 because of leukemia. A JAK2V617F mutated status did not impact on the rate of leukemia transformation or overall survival. Patients in the lower quartile had shorter time to anemia and leukopenia and did not progress to large splenomegaly. Furthermore, survival was significantly reduced in the lower quartile compared with upper quartiles and JAK2 wild-type patients. In multivariate analysis, factors associated with reduced survival were age, a blast count more than 1%, and a JAK2V617F burden within first quartile. Causes of death in the lower quartile were represented mainly by systemic infections. We conclude that a low JAK2V617F allele burden at diagnosis is preferentially associated with a myelodepletive rather than myeloproliferative phenotype and represents an independent factor associated with shortened survival in patients with PMF. (Blood. 2009; 114: 1477-1483)

引用

页码：1477 / 1483

页数：7