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1.
Signaling by the transforming growth factor-β (TGF-β) superfamily is important in the regulation of hematopoiesis and is dysregulated in myelodysplastic syndromes (MDS), contributing to ineffective hematopoiesis and clinical cytopenias. TGF-β, activins and growth differentiation factors exert inhibitory effects on red cell formation by activating canonical SMAD2/3 pathway signaling. SMAD2/3 overactivation is seen in numerous subtypes of MDS. Furthermore, reduced levels of inhibitory SMAD7 are 相似文献
References
- 1.Valcarcel D, Verma A, Platzbecker U, et al. Phase 2 Study of Monotherapy Galunisertib (LY2157299 Monohydrate) in Very Low-, Low-, and Intermediate-Risk Patients with Myelodysplastic Syndromes. Blood. 2015;126:1669.
- 2.Suragani RN, Cawley SM, Li R, Wallner S, et al. Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine β-thalassemia. Blood. 2014 Jun 19;123(25):3864-72.
- 3.Dussiot M, Maciel TT, Fricot A, et al. Nat Med. 2014 Apr;20(4):398-407.
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2.
骨髓增生异常综合征(MDS)伴骨髓嗜酸细胞增多(MDSEO),是MDS的特殊亚型,国外已有成人方面的报道[1],国内尚未见儿童MDSEO的系统介绍。1986年元月至 2000年12月,本科共诊断儿童 MDS 77例,其中 MDSEO6例,占 7.8%,现报道如下。 相似文献
3.
T Economopoulos E Papageorgiou N Stathakis N Asprou P Karmas J Dervenoulas H Bouronikou G Chalevelakis S Raptis 《European journal of haematology》1992,49(3):138-142
In a phase II study, 21 patients with MDS (RAEB, RAEBt, CMML and RA and RAS with severe cytopenia) were randomized to be treated with 3 courses of GM-CSF (3 micrograms/kg/day s.c.) alone (11 patients) or in combination with AraC (20 mg/m2/d s.c.) (10 patients) for 14-d periods, interrupted by 14-d rest periods. Eight patients discontinued the treatment. In the GM-CSF group a marked increase in WBC and neutrophil counts during each course of treatment administration were seen in most patients. Platelet counts decreased in 14 of 24 courses of treatment in the GM-CSF plus AraC group but in none of the GM-CSF group. Although the changes in the circulating blood cells were transient and the counts tended to return to the pretreatment levels during the rest periods, some more durable effects were seen. In 3/6 patients of the GM-CSF group who completed the designed treatment, both WBC and neutrophils remained elevated above the pretreatment levels throughout the 3-month period of treatment, while in one of them thrombocytopenia improved considerably. In the GM-CSF plus AraC group, 4 out of the 7 patients who completed the treatment showed an improvement of neutropenia as well as anaemia. In these 4 patients the BM percentage of blasts was also decreased. In conclusion, the results of this study indicate that GM-CSF given intermittently improves leukopenia in some patients with MDS. In addition, the administration of GM-CSF seems to prevent granulocytopenia of concurrent AraC treatment and may be of benefit in the treatment of these diseases. 相似文献
4.
本文分析我院33例MDS病例的入院前诊断、病例类型、临床表现、血象及骨髓象资料,其中4例转变为急性白血病。 相似文献
5.
Julie Seguier Véronique Gelsi-Boyer Mikael Ebbo Zeinab Hamidou Aude Charbonnier Emmanuelle Bernit Jean-Marc Durand Jean-Robert Harlé Norbert Vey Nicolas Schleinitz 《Autoimmunity reviews》2019,18(1):36-42
Background
We conducted a monocentric retrospective study of patients with myelodysplastic syndromes (MDS) and autoimmune or inflammatory disorders (AIMs) and a literature review. We analyzed the association with subgroups of the WHO 2016 MDS classification and patient's survival in a case control study. Risk factors associated with survival were analyzed by uni- and multivariate analysis.Results
From all MDS patients 11% presented with AIMs. These were heterogeneous and the most frequent where polyarthritis (25%) and autoimmune cytopenias (17%). No difference for frequency and type of AIMs was observed for the WHO 2016 MDS subgroups (p?=?.3). In the case control study WHO classification, karyotype abnormalities, IPSS-R and IPSS were similar in both groups. The overall survival from MDS diagnosis was better in the group with AIMs [10.3?±?0.6 (IC95% 6.2–12.9) versus 4.8?±?1.1?years (IC95% 4.2–8.7), p?=?.04]. The better survival was restricted to MDS with low or intermediate-1 IPSS [11.1?±?1.5 (IC95% 9.9-NR) versus 8.7?±?1.3?years (IC95% 4.8–10.3), p?=?.006]. The better survival was only observed when AIMs diagnosis was timely associated or appeared after MDS diagnosis (p?=?.04). Factors associated with a better overall survival and survival without AML were steroid dependence [respectively HR?=?0.042, p?=?.003, (IC95% 0.005–0.33) and HR?=?0.07, p?=?.002, (IC95% 0.013–0.39)], a diagnosis of AIMs and MDS timely associated [respectively HR?=?0.05, p?=?.009, (IC95% 0.006–0.478) and HR?=?0.1, p?=?.008, (IC95% 0.018–0.54)] or a diagnosis of AIMs after MDS [respectively HR?=?0.024, p?=?.009, (IC95% 0.001–0.39) and HR?=?0.04, p?=?.008, (IC95% 0.003–0.43)].Conclusion
Autoimmune and inflammatory diseases associated to MDS are heterogeneous. AIMs diagnosed after or concomitantly to MDS seems associated with a better survival. Prospective studies are necessary to demonstrate that autoimmunity is associated to a better control of the MDS clone. 相似文献6.
Carrozzo R Bornstein B Lucioli S Campos Y de la Pena P Petit N Dionisi-Vici C Vilarinho L Rizza T Bertini E Garesse R Santorelli FM Arenas J 《Human mutation》2003,21(4):453-454
Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in the TK2 and DGUOK genes. Three novel mutations were identified in TK2 (R183G, R254X, and 142insG). When we analyzed additional genes involved in the dNTPs pool, such as SLC25A19 (DNC) and NT5M (d-NT2), we did not detect mutations. The current study suggest that scanning the TK2, DGUOK, SLC25A19, and NT5M genes is likely to help about 10% of MDS families in terms of genetic counseling. Also, our findings indicate that genotype-phenotype correlations are not straightforward in MDS. 相似文献
7.
8.
9.
Although autologous bone marrow transplantation (ABMT) is a curative option for about 50% of the patients with progressive
or relapsing Symphomas, considerable concern has been raised recently over the emerging rates of secondary malignancies following
ABMT. A 15% cumulative incidence of myelodyspfasia 5 years after BMT is of major concern. We hereby describe a unique form
of leukaemia occuring 4–6 weeks post ABMT for non-Hodgkin’s iymphoma patients. The possible etiology for this phenomenon as
well as its relation to the classical MDS post ABMT is discussed. 相似文献
10.
IL-15对儿童MDS造血前体细胞bcl-2、bcl-xl mRNA表达的影响 总被引:1,自引:0,他引:1
目的 探讨IL-15对骨髓增生异常综合征(MDS)造血细胞bcl-2、bcl—xl mRNA表达的影响,以探索IL-15抑制MDS CD34^ 造血干/祖细胞凋亡的可能机制:方法 采用吸附单克隆抗体的免疫磁珠分离系统,分离纯化17例MDS患儿骨髓CD34^ 细胞,采用RT—PCR检测bcl-2、bcl—xl mRNA表达水平,观察IL-15对它们的影响。结果 IL-15可呈时间与剂量依赖性的增强体外培养的MDS造血前体细胞bcl-2、bcl—xl基因mRNA的表达。结论 IL-15可能为抑制MDS CD34^ 造血干/祖细胞凋亡的作用机制之一。 相似文献