Kodali Srinivas, Chen Chi, Rathnasabapathy Chenthilmurugan, Wang Jen Chin
Brookdale University Hospital and Medical Center, Brooklyn, NY 11212, USA.
Leuk Res. 2009 Dec;33(12):e236-9. doi: 10.1016/j.leukres.2009.06.027. Epub 2009 Jul 22.
JAK2 mutation has not been described in patients with chronic lymphocytic leukemia (CLL). We found JAK2 mutation in a patient with CLL and coexisting myeloproliferative neoplasm (MPN). In this patient, we demonstrated the presence of the JAK2 mutation in CD34(+) progenitor cells, myeloid lineage cells, megakaryocytes, B lymphocytes but not in T lymphocytes. This case represents the first case report of JAK2 mutation in CLL and may also suggest that, JAK2 mutation most likely represents a secondary event from primary gene mutations involving the primitive stem cells which give rise to MPN and CLL. Furthermore, in this case, we believe that we are the first to demonstrate that JAK2 mutation in myeloid and B lymphoid cells but not T lymphocytes in a case of coexisting CLL and MPN.
慢性淋巴细胞白血病（CLL）患者中尚未发现JAK2突变。我们在一名患有CLL并共存骨髓增殖性肿瘤（MPN）的患者中发现了JAK2突变。在该患者中，我们证实在CD34(+)祖细胞、髓系谱系细胞、巨核细胞、B淋巴细胞中存在JAK2突变，但在T淋巴细胞中未发现。该病例是CLL中JAK2突变的首例病例报告，也可能表明，JAK2突变很可能代表了涉及产生MPN和CLL的原始干细胞的原发性基因突变引发的继发性事件。此外，在该病例中，我们相信我们首次证实在CLL和MPN共存的病例中，髓系和B淋巴细胞而非T淋巴细胞中存在JAK2突变。
