背景:目的是提高非加速骨髓增生异常/骨髓增殖性肿瘤(MDS/MPN-U)的临床认知,避免误诊或延迟诊断。
方法:临床表现,实验室指标,组织病理学,分析1例非加速型MDS/MPN-U患者的治疗效果并复习相关文献。
结果:血常规:白细胞98.48x109/L,红细胞3.20x1012/L,嗜碱性粒细胞0.42x109/L,嗜酸性粒细胞1.31x109/L,血红蛋白112g/L,和血小板113×109/L血液涂片显示粒细胞缺乏和不同阶段的细胞,也可以看到多小叶粒细胞。骨髓图像显示粒细胞缺乏症和增生性中性粒细胞,例如双核粒细胞,环状核粒细胞,核冲床,细胞质液泡,多小叶粒细胞等。骨髓活检:骨髓增殖性肿瘤,结合细胞形态学和分子生物学是推荐的。基因检测显示Jak-2阳性,BCR/ABL和MPL阴性。染色体检查表明存在46,XY,添加(2)(P25),del(12)(p11.2p13)[16]/46,XY。
结论:MDS/MPN-U伴粒细胞缺乏症和增生性中性粒细胞少见,主要是老年人,除其他髓系肿瘤外,应作出诊断。目前,没有统一的治疗指南或专家共识。治疗方案有限,需要更多的研究进一步证实。MDS/MPN-U伴粒细胞缺乏症和中性粒细胞发育不良具有不良预后因素,如高龄,骨髓原始细胞和相关基因突变的增加。不良预后是否与特定的基因突变和细胞遗传变异有关,还有待更多的研究数据来阐明。
BACKGROUND: The goal was to improve the clinical cognition of nonaccelerating myelodysplastic/myeloproliferative neoplasms-unclassifiable (MDS/MPN-U) and avoid misdiagnosis or delayed diagnosis.
METHODS: The clinical manifestations, laboratory indicators, histopathology, and therapeutic effects of a patient with nonaccelerating MDS/MPN-U were analyzed and the relevant literature was reviewed.
RESULTS: Blood routine: white blood cell 98.48 x 109/L, red blood cell 3.20 x 1012/L, basophils 0.42 x 109/L, eosinophils 1.31 x 109/L, hemoglobin 112 g/L, and platelet 113 x 109/L. Blood smears showed granulocytosis and cells at various stages, polylobular granulocytes also can be seen. Bone marrow images show granulocytosis and dysplastic neutrophils, such as binuclear granulocyte, cyclic nuclear granulocyte, nuclear punch, cytoplasm vacuoles, polylobular granulocytes and so on. Bone marrow biopsy: Bone marrow proliferation tumor, combined with cell morphology and molecular biochemistry is recommended. Gene test showed Jak-2 positive, BCR/ABL and MPL negative. Chromosome examination indicated the presence of 46, XY, add (2)(p25), del (12) (p11.2p13)[16]/46, XY.
CONCLUSIONS: MDS/MPN-U with granulocytosis and dysplastic neutrophils is rare, mostly in the elderly, and the diagnosis should be made except for other myeloid tumors. Currently, there is no uniform treatment guideline or expert consensus. The treatment options are limited and need to be further confirmed by more studies. MDS/ MPN-U with granulocytosis and dysplastic neutrophils has adverse prognostic factors such as advanced age, increase of bone marrow original cells and related gene mutations. Whether the adverse prognosis is related to specific gene mutations and cytogenetic variation remains to be clarified by more research data.