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Inherited and Acquired Bone Marrow Failure Syndromes: In the Era of DeepGene Sequencing 遗传和获得性骨髓衰竭综合征:在深度基因测序的时代
Pub Date : 2016-12-12 DOI: 10.4172/2329-6917.1000E119
Ling Zhang
Bone marrow failure syndromes (BMFS) are a cluster of inherited or acquired disorders characterized by peripheral cytopenia due to a decrease in hematopoietic progenitors or dysregulated hematopoiesis. Inherited bone marrow failure syndromes are mainly found in pediatric group, encompassing Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital neutropenia (CN), congenital dyserythropoiestic anemia (CDA), Shwachman Diamond syndrome (SDS), and dyskeratosis congenita (DC) [1], In contrast, acquired bone marrow syndromes are more commonly seen in adults and mainly include acquired aplastic anemia (AA), acquired megakaryocytic thrombocytopenia (AMT), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplastic syndromes (MDS).
骨髓衰竭综合征(BMFS)是一组遗传性或获得性疾病,其特征是由于造血祖细胞减少或造血功能失调引起的外周血细胞减少。遗传性骨髓衰竭综合征主要见于小儿组,包括Diamond Blackfan贫血(DBA)、Fanconi贫血(FA)、先天性铁母细胞性贫血(CSA)、先天性中性粒细胞减少症(CN)、先天性促红细胞生成性贫血(CDA)、Shwachman Diamond综合征(SDS)、先天性角化不良(DC)[1]。获得性骨髓综合征多见于成人组,主要包括获得性再生障碍性贫血(AA)、获得性巨核细胞血小板减少症(AMT)、阵发性夜间血红蛋白尿(PNH)和骨髓增生异常综合征(MDS)。
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引用次数: 0
Concomitant Secondary Peripheral T-cell Lymphoma with Therapy-related Chronic Myelomonocytic Leukemia in a Patient with History of High-grade Follicular Lymphoma 伴有高级别滤泡性淋巴瘤病史的患者伴发继发性外周t细胞淋巴瘤与治疗相关的慢性髓单核细胞白血病
Pub Date : 2016-11-26 DOI: 10.4172/2329-6917.1000222
Lynh Nguyen, J. Bowers, Dahui Qin, Ling Zhang
A secondary myeloid or lymphoid neoplasm is not infrequently associated with a primary tumor, solid or hematopoietic, post cytotoxic treatment or radiation. Concurrent secondary neoplasms derived from distinct myeloid and lymphoid cell origins are rare. It is not only a diagnostic challenge, but makes for difficult treatment management. We report a very rare occurrence in 63-year-old male with a history of high-grade follicular lymphoma who was treated with multiple courses of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (RCHOP) and then developed a concurrent secondary peripheral T-cell lymphoma, not otherwise specified (sPTCL, NOS) and therapy-related myeloid neoplasm (tMN), under an umbrella of myelodysplastic/myeloproliferative neoplasm, namely chronic myelomonocytic leukemia (CMML). Despite aggressive therapeutic management, the patient passed away secondary to disease progression, complications of infection, and multi-organ failure. An appropriate diagnostic approach for complicated cases as described aided in providing the correct diagnosis.
继发性髓系或淋巴系肿瘤与原发肿瘤、实体肿瘤或造血肿瘤、细胞毒性治疗或放射治疗相关。起源于髓细胞和淋巴细胞的并发继发性肿瘤是罕见的。它不仅是诊断上的挑战,而且使治疗管理变得困难。我们报告了一例非常罕见的63岁男性高级别滤泡性淋巴瘤患者,他接受了多个疗程的美罗华单抗、环磷酰胺、阿霉素、长春新碱和泼尼松(RCHOP)治疗,然后并发继发性外周t细胞淋巴瘤,无其他特异性(sPTCL、NOS)和治疗相关的髓系肿瘤(tMN),属于骨髓增生异常/骨髓增生性肿瘤,即慢性髓单核细胞白血病(CMML)。尽管进行了积极的治疗,患者还是因疾病进展、感染并发症和多器官衰竭而死亡。如所述,对复杂病例采用适当的诊断方法有助于提供正确的诊断。
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引用次数: 0
Detection of a High Frequency of e1a3/BCR-ABL in Chronic Myeloid Leukemia Patients of Sulaimania Province by RT-PCR RT-PCR检测苏莱曼尼亚省慢性髓系白血病患者e1a3/BCR-ABL的高频表达
Pub Date : 2016-11-25 DOI: 10.4172/2329-6917.1000221
G. Salih
Introduction: In order to detect the mutation variants of BCR-ABL fusion genes that lead to leukemia in human, 30 blood samples from chronic myeloid leukemia patients and 10 blood samples from apparently healthy people (as control) were collected and tested hematologically, morphologically and by amplification of the fusion mRNA by RT-PCR. The e1a3 variant was detected by amplification of 309 bp from the fusion of exons 1 of bcr and exon 3 of abl gene. Materials and method: Application of RT-PCR assay to detect the prevalence and frequency of ela3 and ela2 variants in CML patients and in routine diagnosis of the most common leukemia translocations. Results: The RT-PCR showed that out of 30 patients, 23 (76.6%) were with e1a3 mutation variant and 7 (23.3%) were negative for e1a2 and e1a3 variants. All the 10 control samples showed no mutations related to these variants. Conclusion: The e1a3 variant was detected by amplification of 309 bp from the fusion of exons 1 of bcr and exon 3 of abl gene and the RT-PCR showed that out of 30 patients, 23 (76.6%) were with e1a3 mutation variant and 7 (23.3%) were negative for e1a2 and e1a3 variants, while the 10 control samples showed no mutations related to these variants.
为了检测导致人类白血病的BCR-ABL融合基因突变变异,我们采集了30例慢性髓性白血病患者和10例表面健康人群(作为对照)的血液样本,采用血液学、形态学和RT-PCR扩增融合mRNA进行检测。通过bcr基因外显子1和abl基因外显子3的融合扩增309bp,检测到e1a3突变体。材料与方法:应用RT-PCR法检测ela3和ela2变异在CML患者中的患病率和频率,以及在常规诊断最常见的白血病易位中的应用。结果:RT-PCR结果显示,30例患者中有23例(76.6%)存在e1a3突变变异,7例(23.3%)e1a2和e1a3突变阴性。所有10个对照样本均未发现与这些变异相关的突变。结论:通过bcr基因外显子1和abl基因外显子3的融合扩增309bp,检测到e1a3变异,RT-PCR结果显示,30例患者中,23例(76.6%)患者携带e1a3突变变异,7例(23.3%)患者e1a2和e1a3突变阴性,而10例对照样本未发现与这些变异相关的突变。
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引用次数: 2
Late-onset Imatinib-induced Liver Failure Treated with Dasatinib for Two Years Resulted in Long-term Undetectable Response 迟发性伊马替尼引起的肝衰竭用达沙替尼治疗两年导致长期无法检测到的反应
Pub Date : 2016-10-31 DOI: 10.4172/2329-6917.1000220
K. Inokuchi, Muneo Okamoto, K. Nakayama, H. Tamai, H. Yamaguchi
A 21-year-old man who was diagnosed with chronic-phase CML and treated with imatinib (400 mg/day) during September 2004 achieved a complete molecular response within 14 months. His liver function remained normal during this period. The results of liver function tests after four years of treatment showed AST, 547 IU/L; ALT, 1124 IU/L, and viral hepatitis and autoimmune hepatitis were undetectable. Drug toxicity was suspected and imatinib was immediately discontinued. A liver biopsy showed hemorrhagic necrosis and hemosiderin deposition around the central vein indicating a diagnosis of imatinib-induced liver failure. Aminotransferases normalized within three months after imatinib withdrawal. Seven months after imatinib discontinuation, bcr-abl transcripts were detected twice during the next four months. Thus, dasatinib (100 mg) was administered, which resulted in an undetectable molecular response within two months. The patient decided to stop taking dasatinib two years after achieving the undetectable molecular response and he has remained in this condition for four years since. Patients with liver damage require follow-up. To confirm the benefit of changing medication from imatinib or other drugs to dasatinib will require more information from accumulated cases.
2004年9月,一名21岁的男性被诊断为慢性粒细胞白血病,并接受伊马替尼(400mg /天)治疗,14个月内获得了完全的分子缓解。在此期间,他的肝功能保持正常。治疗4年后肝功能检查结果:AST, 547 IU/L;ALT、1124 IU/L、病毒性肝炎和自身免疫性肝炎均未检出。怀疑有药物毒性,立即停用伊马替尼。肝活检显示出血性坏死和含铁血黄素沉积在中央静脉周围,表明诊断为伊马替尼诱发的肝衰竭。停用伊马替尼后三个月内转氨酶恢复正常。伊马替尼停药7个月后,在接下来的4个月内检测到两次bcr- able转录本。因此,给药达沙替尼(100mg)在两个月内产生了无法检测到的分子反应。患者在达到无法检测到的分子反应两年后决定停止服用达沙替尼,此后他一直保持这种状态四年。肝损害患者需要随访。要确认从伊马替尼或其他药物改为达沙替尼的益处,需要从累积病例中获得更多信息。
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引用次数: 0
Methylated SFRP1,2 and CD25 Expression in Acute Myeloid Leukemia Play an Important Role in the Pathogenesis of the Disease and in Turn in its Treatment 急性髓系白血病中甲基化的SFRP1,2和CD25表达在疾病的发病机制和治疗中发挥重要作用
Pub Date : 2016-10-30 DOI: 10.4172/2329-6917.1000219
M. Elrahman, D. Nigm, Azza A Abo Elfadle
Objectives: Recently, hyperactivation of the Wnt signaling pathway has been implicated in leukomogenesis, so we studied the epigenetic dysfunction of SFRP1,2 and expression of interleukin2 receptor α chain (IL2Rα, also known as CD25) and its prognostic impact in acute myeloblastic leukemia (AML). Methods: We studied the methylation profile of SFRP1,2 in AML cells by methylation-specific polymerase chain reaction (MSP) and the hyper expression of IL2Rα (CD25) by flowcytometry. Results: We analyzed the methylation profile of SFRP1,2 in 40 de novo AML patients. The percentage of hypermethylation in the patient samples were 37.5% for SFRP1, 12.5% for SFRP2. CD25 was positive in 12(30%) of 40 patients AML. We found that in patients whom 60 years and younger with intermediate risk cytogenetics in de novo AML, hypermethylation of SFRP1 and CD25 were accompanied with relapse (P=0.024). Conclusion: Our data indicates that in a subgroup of AML patients, hypermethylation of SFRP1 and high expression of CD25 predict relapse
最近,Wnt信号通路的过度激活与白血病的发生有关,因此我们研究了急性髓母细胞白血病(AML)中SFRP1,2的表观遗传功能障碍和白细胞介素2受体α链(IL2Rα,也称为CD25)的表达及其预后影响。方法:通过甲基化特异性聚合酶链反应(MSP)和流式细胞术研究AML细胞中SFRP1,2的甲基化谱和IL2Rα (CD25)的高表达。结果:我们分析了40例新发AML患者中SFRP1,2的甲基化谱。患者样本中SFRP1和SFRP2的高甲基化比例分别为37.5%和12.5%。40例AML患者中有12例(30%)CD25阳性。我们发现,在60岁及以下具有中等风险细胞遗传学的新发AML患者中,SFRP1和CD25的高甲基化伴随着复发(P=0.024)。结论:我们的数据表明,在AML患者的一个亚组中,SFRP1的高甲基化和CD25的高表达预示着复发
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引用次数: 3
Bacillus cereus Catheter-Related Infection in Acute Lymphoblastic Leukemia(ALL) Patient: A Case Report and Review of Literature 急性淋巴细胞白血病(ALL)患者蜡样芽孢杆菌导管相关感染1例报告及文献复习
Pub Date : 2016-10-15 DOI: 10.4172/2329-6917.1000218
Piro Eugenio, L. Luciano, Kropp Mariagrazia, Molica Stefano
Bacillus cereus is an aerobic Gram-positive spore forming rod that is ubiquitous in the environment. A case of severe infection due to Bacillus cereus isolated on the tip of central venous catheter (CVC) of a patient with acute lymphoblastic leukemia (ALL) is reported here. We point out the role played by a rapid diagnosis of Bacillus cereus sepsis and early therapeutic intervention in the control of this life-threatening infection
蜡样芽孢杆菌是一种在环境中普遍存在的需氧革兰氏阳性孢子形成棒。本文报告一例急性淋巴细胞白血病(ALL)患者中心静脉导管(CVC)尖端分离的蜡样芽孢杆菌引起的严重感染。我们指出蜡样芽孢杆菌脓毒症的快速诊断和早期治疗干预在控制这种危及生命的感染中所起的作用
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引用次数: 0
Human Endogenous Retrovirus: Their Relationship with Hematological Diseases 人内源性逆转录病毒与血液病的关系
Pub Date : 2016-09-15 DOI: 10.4172/2329-6917.1000217
Sabrina Fischer, N. Echeverría, J. Cristina, P. Moreno
Human endogenous retrovirus (HERVs) integrated in the human genome millions of years ago and became a stable part of the inherited genetic material. Most of these HERVs are dysfunctional due to numerous mutations and thus making it impossible to generate a full, infectious retrovirus particle from a single genetic locus. However, many HERVs are still exceptionally well preserved and maintain Open Reading Frames encoding functional viral proteins. The permanence of HERV´s genes along evolution suggests that these elements have proven beneficial to human survival. In this regard, the expression of certain HERV proteins is implicated in important physiological functions, such as placental development. Nevertheless, reactivation of HERVs has frequently been observed in a variety of human tumors suggesting their potential to contribute to malignant progression. Considering the role of HERVs in the carcinogenesis process, the purpose of this mini review is to deepen into HERVs expression and its possible implication in hemato-oncologic disease development.
人类内源性逆转录病毒(HERVs)在数百万年前就整合在人类基因组中,并成为遗传遗传物质的稳定部分。大多数这些herv由于大量突变而功能失调,因此不可能从单个遗传位点产生完整的、传染性的逆转录病毒颗粒。然而,许多herv仍然保存得非常好,并保持编码功能性病毒蛋白的开放阅读框架。HERV基因在进化过程中的持久性表明,这些元素已被证明对人类生存有益。在这方面,某些HERV蛋白的表达涉及重要的生理功能,如胎盘发育。然而,在各种人类肿瘤中经常观察到herv的再激活,这表明它们有可能促进恶性进展。考虑到herv在癌变过程中的作用,本文旨在深入探讨herv的表达及其在血液肿瘤疾病发展中的可能意义。
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引用次数: 2
Anterior Chest Wall Bulging: A Rare Initial Manifestation of Acute Lymphoblastic Leukemia in a Child 前胸壁突出:儿童急性淋巴细胞白血病的一种罕见的初始表现
Pub Date : 2016-09-07 DOI: 10.4172/2329-6917.1000215
S. Zareifar, N. Shakibazad, Gholamreza Fathpour, Mehrpour Moradi, Fazl Saleh
Acute lymphoblastic leukemia (ALL) has several clinical manifestations on the base of bone marrow infiltration and the extent of extra medullary involvement. Anterior chest wall bulging as an initial presentation is rare. The aim of this case report study is to present a 3.5 year-old-boy presented with anterior chest wall bulging without history of trauma since 1 month ago. Tc99m-MDP bone scan showed multifocal active bony pathology in sternum, lower thoracic and all lumbar vertebra and right sacral ala. Bone marrow aspiration and biopsy was in favor of acute precursor lymphoblastic leukemia, B cell type. Therefore, acute lymphoblastic leukemia has different initial presentation and anterior chest wall bulging can be a rare initial sign of acute lymphoblastic leukemia in children.
急性淋巴细胞白血病(Acute lymphoblastic leukemia, ALL)在骨髓浸润及髓外受累程度的基础上有多种临床表现。以前胸壁膨出为首发表现是罕见的。本病例报告研究的目的是提出一个3.5岁的男孩前胸壁膨出,无外伤史,自1个月前。Tc99m-MDP骨扫描显示胸骨、下胸椎、全腰椎及右侧骶翼多灶性活动性骨病变。骨髓穿刺活检提示急性前体淋巴细胞白血病,B细胞型。因此,急性淋巴细胞白血病具有不同的初始表现,前胸壁膨出可能是儿童急性淋巴细胞白血病的罕见初始征象。
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引用次数: 3
Detection of EpsteinâÂÂBarr virus in Pediatric Lymphoma: A Single Center Study 儿童淋巴瘤EpsteinÃⅱÂÂBarr病毒检测:单中心研究
Pub Date : 2016-09-07 DOI: 10.4172/2329-6917.1000213
S. Zareifar, B. Kazemi, Arzanian Mt, M. ehpour
Background: Efforts were made in order to identify the etiologic factors in pediatric cancers. Several studies have suggested a probable etiologic association between lymphoma and Epstein-Barr virus (EBV); therefore, the aim of this study was to investigate the association of EBV in childhood lymphoma. Materials and method: Paraffin block of 63 pediatric patients with lymphoma was studied for detection of EBV latent membrane protein 1 (LMP-1). The clinical data regarding age, sex, type of lymphoma and histology, stage of the disease of the patients treated in a retrospective consecutive manner for 5 years were used. Results: Sixty-three eligible patients including 41 (65%) patients with non-Hodgkin lymphoma (NHL) and 22 (34.9%) of Hodgkin lymphoma (HL) were assessed. The male to female ratio was 3.84/1. Regarding the gender, the overall difference between NHL and HL was statistically significant. With respect to age, the difference between HL and NHL was not significant. EBV LMP1 gene transcripts were found in 65.8% of children with NHL and 59% of children with HL. Regarding the type of lymphoma, LMP1 positivity was not statistically significant (P=0.087). Conclusion: EBV infection may be a factor involved in the high incidence of pediatric lymphoma; our study suggests a positive influence of EBV infection in pediatric lymphomas.
背景:努力确定儿童癌症的病因。几项研究表明淋巴瘤与eb病毒(EBV)之间可能存在病因学关联;因此,本研究的目的是探讨eb病毒与儿童淋巴瘤的关系。材料与方法:对63例小儿淋巴瘤患者石蜡切片进行EBV潜伏膜蛋白1 (LMP-1)的检测。采用回顾性连续治疗5年患者的年龄、性别、淋巴瘤类型及组织学、疾病分期等临床资料。结果:共纳入63例符合条件的患者,包括41例(65%)非霍奇金淋巴瘤(NHL)和22例(34.9%)霍奇金淋巴瘤(HL)。男女比例为3.84/1。在性别方面,NHL与HL的总体差异有统计学意义。在年龄方面,HL和NHL的差异不显著。65.8%的NHL患儿和59%的HL患儿中发现EBV LMP1基因转录物。在不同类型淋巴瘤中,LMP1阳性差异无统计学意义(P=0.087)。结论:EBV感染可能是儿童淋巴瘤高发的一个因素;我们的研究表明EBV感染对儿童淋巴瘤有积极影响。
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引用次数: 0
Letter to the Editor: Classical Hodgkin Lymphoma and the Measles Virus 致编辑的信:经典霍奇金淋巴瘤和麻疹病毒
Pub Date : 2016-09-07 DOI: 10.4172/2329-6917.1000216
D. Benharroch
An association between measles virus (MV) proteins and RNA and classical Hodgkin lymphoma (cHL) was first demonstrated by immunohistochemistry, RT-PCR and in situ hybridization, in 2004 [1]. We used several commercial and experimental anti-MV antibodies. Total RNA was extracted from all available snap-frozen tissue and from a few FFPE tissues out of a random cohort of 154 cHL untreated patients. Of the 154 biopsies, 82 (54%) were positive for at least two MV antigens. By Southern blot, 4 of 15 hemagglutinin (HA) MVRNAs, as well as 2 of 16 nucleoprotein (NP) MV-RNAs were positive. In situ hybridization showed that 2 of 7 HA and 8 of 21 NP-MV-RNAs were positive [1].
2004年,麻疹病毒(MV)蛋白和RNA与经典霍奇金淋巴瘤(cHL)之间的关联首次通过免疫组织化学、RT-PCR和原位杂交得到证实。我们使用了几种商业和实验抗mv抗体。从154名cHL未治疗患者的随机队列中提取所有可用的速冻组织和少数FFPE组织的总RNA。154例活检中,82例(54%)至少两种MV抗原阳性。通过Southern blot检测,15个血凝素(HA) mvrna中有4个阳性,16个核蛋白(NP) mv - rna中有2个阳性。原位杂交结果显示,7个HA中有2个呈阳性,21个np - mv - rna中有8个呈阳性。
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引用次数: 2
期刊
Journal of leukemia (Los Angeles, Calif.)
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