Wang Y Lynn, Lee Joong W, Kui Jonathan S, Chadburn Amy, Cross Nicholas C P, Knowles Daniel M, Coleman Morton
Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY 10021, USA.
Acta Haematol. 2007;118(4):209-14. doi: 10.1159/000111532. Epub 2007 Nov 21.
BACKGROUND/AIMS: The JAK2(V617F) mutation, which has been found in patients with myeloproliferative disorders (MPD), has not yet been evaluated in lymphoproliferative disorders by any adequately sensitive techniques.
We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay.
While 234 of 237 cases did not carry the JAK2(V617F) allele, it was identified in the bone marrow of 3 B cell lymphoma patients. The mutation was found to be neither associated with the lymphomas per se, nor with any signs, symptoms or laboratory findings of MPD. Moreover, JAK2(V617F) appeared subsequently in the peripheral blood of 2 of the 3 patients.
These findings suggest that JAK2(V617F) arises in the bone marrow of individuals before clinical manifestation of any myeloid disorders. Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, just as monoclonal gammopathy of undetermined significance (MGUS) increases the risk of multiple myeloma. We term this phenomenon 'JAK2(V617F) of undetermined significance' (JMUS). Its clinical significance remains to be determined. To our knowledge, these findings represent the first identification of JAK2(V617F) in the bone marrow of patients without myeloid malignancies.
背景/目的：在骨髓增殖性疾病（MPD）患者中发现的JAK2（V617F）突变，尚未通过任何足够灵敏的技术在淋巴增殖性疾病中进行评估。
我们使用高度灵敏且高度特异的扩增阻滞突变系统PCR（ARMS-PCR）检测法，研究淋巴细胞肿瘤中是否存在低水平的JAK2（V617F）。
237例病例中有234例未携带JAK2（V617F）等位基因，但在3例B细胞淋巴瘤患者的骨髓中检测到该突变。发现该突变既与淋巴瘤本身无关，也与MPD的任何体征、症状或实验室检查结果无关。此外，3例患者中有2例随后在外周血中出现了JAK2（V617F）。
这些发现表明，JAK2（V617F）在个体骨髓中出现，早于任何髓系疾病的临床表现。因此，骨髓中存在JAK2（V617F）可能会增加未来发生MPD的风险，就如同意义未明单克隆丙种球蛋白病（MGUS）会增加多发性骨髓瘤的风险一样。我们将这种现象称为“意义未明的JAK2（V617F）”（JMUS）。其临床意义仍有待确定。据我们所知，这些发现首次在无髓系恶性肿瘤患者的骨髓中鉴定出JAK2（V617F）。
