Abstract：
Myelodysplastic syndromes (MDS) are a group of heterogeneous pathologies that are characterized by clonal alterations in hematopoietic stem cells (HSC). MDS are usually seen in patients over 60 years of age and are accompanied by decreased ability of HSC to differentiate and enter apoptosis, producing bone marrow with increased cellularity conditioned by ineffective hematopoiesis and a degree of peripheral cytopenia. Approximately 30% of de novo MDS are associated with a complex karyotype, defined as the existence of 3 or more chromosomal abnormalities in the same karyotype. We present the case of a 27-year-old woman referred for pancytopenia, who has a son with aplastic anemia. The patient presented a 6-month evolution picture characterized by asthenia and adynamia. She presented with pale integuments and without clinical bleeding. Initial laboratories showed hemoglobin 4.9 g/dL, hematocrit 14%, mean corpuscular volume 96.6 fL, mean cell hemoglobin 33 pg, white blood cells 2,000 cells/mL, neutrophils 900 cells/mL, lymphocytes 900 cells/mL, monocytes 100 cells/mL, platelets 36,000, lactate dehydrogenase 357 U/L. Bone marrow aspirate was performed, reporting hypercellularity for age, heterogeneous cellularity, dyspoiesis in the red series, and blasts <5%. Flow cytometry reported 11% of total cells with CD2+, CD33+, CD34+, CD38+, CD45+, CD117+, and HLA+ phenotypic expression and changes in the maturation pattern of the granulocytic series. Karyotyping showed 348-73,XXX,sl,t(4:10)(q35;q11.2) x(2),add(12)(q24)x(2),1+2+3+4+5+6+7+8+9+10+11+12+13+14+15+16+17+18+19+20+21+22 (26)/46,XX(2)(28). The double cell line predominated over the one that contains polyploidies, involving translocation between the long arms of chromosomes 4 and 10 and adhesion in the long arms of chromosome 12 of indeterminate origin on the normal line. Myelodysplastic syndrome with excess blasts was diagnosed, and IPSS-2 high risk was concluded. During the patient\'s evolution, she presented a high transfusion requirement and recurrent infections, dying due to an infectious process. The age of the patient contrasts with reports in the literature that MDS tend to be more aggressive at a younger age. The complex karyotype in MDS predisposes patients to clonal evolution; despite this, it is not considered a separate prognostic factor by the IPSS-R. Ideally, this group of young patients should seek early hematopoietic stem cell transplantation with curative intent.
摘要：
骨髓增生异常综合征（MDS）是一组异质性病变，其特征在于造血干细胞（HSC）的克隆性改变。MDS通常见于60岁以上的患者，并伴有HSC分化和进入凋亡的能力下降，由于无效的造血和一定程度的外周血细胞减少，产生细胞数量增加的骨髓。大约30％的从头MDS与复杂的核型有关，定义为在同一核型中存在3个或更多的染色体异常。我们介绍了一名27岁女性因全血细胞减少症转诊的病例，他的儿子患有再生障碍性贫血.患者表现出6个月的演变图片，其特征是虚弱和无力。她的面层苍白，没有临床出血。初始实验室显示血红蛋白4.9g/dL，血细胞比容14%,平均红细胞体积96.6fL，平均细胞血红蛋白33pg，白细胞2,000个细胞/mL，中性粒细胞900细胞/mL，淋巴细胞900细胞/mL，单核细胞100细胞/mL，血小板36,000,乳酸脱氢酶357U/L进行骨髓穿刺,报告年龄的细胞过多，异质细胞，红色系列的发育不良，爆炸<5%。流式细胞术报告11%的总细胞与CD2+，CD33+,CD34+,CD38+,CD45+,CD117+,和HLA+表型表达和粒细胞系列成熟模式的变化。核型分析显示348-73，XXX，sl,t(4:10)(q35；q11.2)x(2)，添加(12)(q24)x(2)，1+2+3+4+5+6+7+8+9+10+11+12+13+14+15+16+17+18+19+20+21+22(26)/46,XX(2)(28)。双细胞系在含有多倍体的细胞系中占主导地位，涉及染色体4和10的长臂之间的易位，以及正常线上不确定起源的染色体12的长臂中的粘附。诊断为骨髓增生异常综合征伴过度母细胞，IPSS-2高风险的结论。在病人的进化过程中,她提出了高输血需求和反复感染，由于感染过程而死亡。患者的年龄与文献中关于MDS在较年轻时倾向于更具攻击性的报道形成对比。MDS的复杂核型使患者容易发生克隆进化；尽管如此，IPSS-R不认为是单独的预后因素。理想情况下,这组年轻患者应寻求早期有治愈性的造血干细胞移植。
