Blastic plasmacytoid dendritic cell neoplasm with leukemic manifestation and ETV6 gene rearrangement: A case report
Blastic plasmacytoid dendritic cell neoplasm with leukemic manifestation and ETV6 gene rearrangement: A case report
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DOI：
10.3892/etm.2015.2236
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发表时间：
2015-04-01
影响因子：
2.7
通讯作者：
Guo, Nong-Jian
中科院分区：
文献类型：
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作者：
Gao, Na;Wang, Xue-Xia;Guo, Nong-Jian
母细胞性浆细胞样树突状细胞肿瘤（BPDCN）是一种罕见的造血系统恶性肿瘤，起源于浆细胞样树突状细胞前体，具有高度侵袭性。BPDCN经常累及皮肤、淋巴结、外周血和骨髓。已知BPDCN在疾病的晚期发展为白血病播散，这是骨髓单核细胞白血病的特征，导致预后较差。本文报告一例以白血病表现而无皮肤侵犯的BPDCN。此外，在患者中检测到ETS变异基因6（ETV 6）基因重排。患者完全缓解后不久复发，进一步治疗无效。据我们所知，这是第一次报告的情况下，BPDCN与ETV 6重排。化疗后，患者在完全缓解期出现严重头痛;然而，脑部CT扫描显示无明显异常。进行了几次腰椎穿刺和鞘内化疗，患者逐渐恢复。因此，认为患者患有中枢神经系统白血病。结论：对缓解期有白血病表现的BPDCN患者应实施腰椎穿刺和预防性鞘内化疗。
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare malignant tumor of the hemopoietic system that arises from plasmacytoid dendritic cell precursors with a highly aggressive course. BPDCN frequently involves the skin, lymph nodes, peripheral blood and bone marrow. BPDCN is known to develop leukemic dissemination as a feature of myelomonocytic leukemia in the late phase of the disease, which leads to a poorer prognosis. In the present study, a case of BPDCN with leukemic manifestation without cutaneous involvement was reported. In addition, ETS variant gene 6 (ETV6) gene rearrangement was detected in the patient. The patient relapsed soon after complete remisson and had no response to further treatment. To the best of our knowledge, this is the first reported case of BPDCN with ETV6 rearrangement. Following chemotherapy treatment, the patient suffered from severe headache in the complete remission stage; however, brain CT scans showed no significant abnormalities. Several lumbar punctures and intrathecal chemotherapy were performed, and the patient recovered gradually. Therefore, the patient was considered to suffer from central nervous system leukemia. In conclusion, implementation of lumbar punctures and preventive intrathecal chemotherapy are required in BPDCN patients with leukemic manifestation during the remission stage.