Association of JAK2 Mutation Status and Cytogenetic Abnormalities in Myeloproliferative Neoplasms and Myelodysplastic/Myeloproliferative Neoplasms

被引：12

作者：

Dunlap, Jennifer ^{[1
]}

Kelemen, Katalin ^{[1
]}

Leeborg, Nicky ^{[1
]}

Braziel, Rita ^{[1
]}

Olson, Susan ^{[2
]}

Press, Richard ^{[1
]}

Huang, James ^{[3
]}

Gatter, Ken ^{[1
]}

Loriaux, Marc ^{[1
]}

Fan, Guang ^{[1
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Pathol, Portland, OR 97201 USA

[2] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[3] William Beaumont Hosp, Dept Clin Pathol, Royal Oak, MI 48072 USA

来源：

AMERICAN JOURNAL OF CLINICAL PATHOLOGY | 2011年 / 135卷 / 05期

关键词：

Myeloid neoplasm; Cytogenetics; JAK2; TYROSINE KINASE MUTATION; JAK2V617F ALLELE BURDEN; ACUTE MYELOID-LEUKEMIA; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; PRIMARY MYELOFIBROSIS; V617F MUTATION; IDIOPATHIC MYELOFIBROSIS; MONOSOMAL KARYOTYPE; CLINICAL PHENOTYPE;

D O I：

10.1309/AJCPS6C8EVYCQNRM

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 179 cases were analyzed for the JAK2 mutation. Among them, cytogenetic data were available for 97 cases-45 of 106 JAK2 + and 52 of 73 JAK2-. The JAK2+ group showed a higher frequency of cytogenetic anomalies than the JAK2- group (23/45 [51%] vs 14/52 [27%]). Chromosome 9, chromosome 7, and 20q- were recurrent abnormalities in the JAK2 + group, whereas 13q- and trisomy 21 were common in the JAK2-group. In the JAK2+ group, chromosome 7 and complex cytogenetic abnormalities were associated with excess blasts/blastic transformation (P < .05), whereas no cases with 20q- underwent blastic transformation. Our results suggest that incorporation of JAK2 mutation testing and karyotyping allows for monitoring of disease progression with prognostic and therapeutic implications.

引用

页码：709 / 719

页数：11

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