造血器腫瘍の遺伝子検査

Gene expression analysis in hematological neoplasms

　JAK2 V617F(V617F)は古典的骨髄増殖性腫瘍(cMPN)である真性多血症，本態性血小板血症，原発性骨髄線維症に共通してみられる遺伝子変異で，これらの病態に深く関与している．2008年に発表されたWHO分類の診断基準の大項目に採用され，V617Fの検出はcMPNの診断に必須である．V617Fアレルバーデン定量法にはいくつかの方法があるが，ABC-PCR法は簡便性とコストにおいて他を凌駕する新規手法である．cMPNの遺伝子発現プロファイルではV617F依存性だけでなく非依存性の遺伝子発現もみられ，cMPNの発症にはV617F以外の関与も考えられる．

JAK2 V617F (V617F) gene mutation is commonly detectable in classical myeloproliferative neoplasms (cMPNs), polycythemia vera, essential thrombocythemia and primary myelofibrosis.　This gene mutation is deeply involved in physiopathogenesis of cMPNs.　Because WHO classification published in 2,008 adopted V617F as one of the major diagnostic criteria for cMPNs, the detection of V617F is a prerequisite for definite diagnosis of cMPNs.　To this end, several methods for detecting and quantifying V617F have been developed to date.　Among them, our novel ABC-PCR method is simpler in manipulation and lower in running cost compared to other methods.　Gene expression profiling revealed that not only V617F-dependent gene expression but also V617F-independent gene expression was observed in cMPN patients.　Therefore, other molecules besides V617F may be involved in the physiopathogenesis of cMPNs.