一种基于基质辅助激光解吸电离飞行时间质谱（MALDI-TOF）的检测方法，用于监测接受经典骨髓增殖性疾病（MPD）异基因干细胞移植（allo SCT）患者的JAK2 V617F突变水平。
A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD).
作者信息
Koren-Michowitz Maya, Shimoni Avichai, Vivante Asaf, Trakhtenbrot Luba, Rechavi Gideon, Amariglio Ninette, Loewenthal Ron, Nagler Arnon, Cohen Yoram
机构信息
Division of Hematology, Sheba Medical Center, Tel-Hashomer, Israel.
出版信息
Leuk Res. 2008 Mar;32(3):421-7. doi: 10.1016/j.leukres.2007.07.003. Epub 2007 Aug 14.
JAK2 V617F mutation is found in a high proportion of MPD patients. We developed a quantitative assay for the detection of the JAK2 mutation and demonstrated its clinical utility in MPD patients who underwent SCT. Sixty percent of the patients were JAK2 V617F positive prior to the SCT (mean mutation levels 74%, range 16-98%). After the procedure, the mutation levels progressively decreased and were in correlation with the donor-recipient chimerism status (r=0.97, p<0.001). At a median follow up of 16 months (range 2-58), 9/15 patients are alive and in CR. The levels of the JAK2 V617F mutation reached 0% in all surviving patients.
在大部分骨髓增殖性疾病（MPD）患者中可检测到JAK2 V617F突变。我们开发了一种定量检测JAK2突变的方法，并证明了其在接受异基因造血干细胞移植（SCT）的MPD患者中的临床应用价值。60%的患者在SCT前JAK2 V617F呈阳性（平均突变水平74%，范围16 - 98%）。移植后，突变水平逐渐下降，且与供体 - 受体嵌合状态相关（r = 0.97，p < 0.001）。在中位随访16个月（范围2 - 58个月）时，15例患者中有9例存活且处于完全缓解（CR）状态。所有存活患者的JAK2 V617F突变水平均降至0%。
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