Mutation screening for JAK2^V617F: When to order the test and how to interpret the results

详细信息    查看全文

• 作者：Ayalew Tefferi and Animesh Pardanani
• 关键词：JAK2 mutation ; Polycythemia ; Thrombocytosis ; Diagnosis
• 刊名：Leukemia Research
• 出版年：2006
• 出版时间：June 2006
• 年：2006
• 卷：30
• 期：6
• 页码：739-744
• 全文大小：152 K

文摘

With the application of adequately sensitive tests, it is now becoming evident that more than 90 % of patients with conventionally-defined polycythemia vera (PV) carry the somatic JAK2^V617F mutation in their granulocytes. However, the specific mutation is also found in other classic and atypical myeloproliferative disorders (MPD), albeit at a lesser frequency. In contrast, JAK2^V617F has not been reported in patients with either reactive myeloproliferation or lymphoid disorders. Therefore, mutation screening for JAK2^V617F can be considered as a myeloid-specific clonality assay and it is diagnostically most useful in the evaluation of “polycythemia”.