小儿再生障碍性贫血的诊断及鉴别诊断

目的提高对小儿再生障碍性贫血(AA)诊断及鉴别诊断的认识。方法对30例CAA、17例骨髓增生异常综合征(MDS)及4例小儿急性淋巴细胞白血病前期(pre-ALL)做血象、骨髓象及骨髓活检分析。结果CAA组与MDS组血象单核细胞及血小板计数间比较(P<0·05),有显著性差异。CAA组骨髓增生低下,原始+早幼粒细胞、原始+早幼红细胞、巨核细胞明显少于MDS,各组间比较(P<0·01),有显著差异性,并见MDS各系病态造血。骨髓活检CAA组96%以上造血组织明显减少、脂肪组织明显增多,巨核细胞缺如或减少(均<2个/片),检出率9·7%,纤维组织增生检出率16·3%。MDS组70%增生良好,近60%检出红系同一阶段发育幼红细胞岛,近90%检出幼稚前体细胞异常定位(ALIP),全部病例见纤维组织增生和小巨核细胞等异常。4例pre-ALL示三系细胞减少,骨髓增生减低,巨核细胞0~6个/片,活检示脂肪组织增多,造血组织明显减少,亦可见病态造血,1~4周内转变为急性淋巴细胞白血病(ALL)。结论CAA患儿外周血细胞减少,骨髓造血功能衰竭,无病态造血。MDS外周血单核细胞增多,骨髓增生良好,具有多系病态造血;ALIP、巨核细胞形态异常及红系同一阶段发育幼红细胞岛伴纤维组织增生是其特征。pre-ALL具有CAA和MDS的临床及实验室特点,但在短期内转变为ALL又与之不同。     

小儿再生障碍性贫血的诊断及鉴别诊断

目的提高对小儿再生障碍性贫血（AA）诊断及鉴别诊断的认识。方法对30例CAA、17例骨髓增生异常综合征（MDS）及4例小儿急性淋巴细胞白血病前期（pre - ALL）做血象、骨髓象及骨髓活检分析。结果CAA组与MDS组血象单核细胞及血小板计数间比较（P〈0．05），有显著性差异。CAA组骨髓增生低下，原始 ＋ 早幼粒细胞、原始 ＋ 早幼红细胞、巨核细胞明显少于MDS，各组间比较（P〈0．01），有显著差异性，并见MDS各系病态造血。骨髓活检CAA组96％以上造血组织明显减少、脂肪组织明显增多，巨核细胞缺如或减少（均〈2个／片），检出率9．7％，纤维组织增生检出率16．3％。MDS组70％增生良好，近60％检出红系同一阶段发育幼红细胞岛，近90％检出幼稚前体细胞异常定位（ALIP），全部病例见纤维组织增生和小巨核细胞等异常。4例pre - ALL示三系细胞减少，骨髓增生减低，巨核细胞0 ～ 6个／片，活检示脂肪组织增多，造血组织明显减少，亦可见病态造血，1 ～ 4周内转变为急性淋巴细胞白血病（ALL）。结论CAA患儿外周血细胞减少，骨髓造血功能衰竭，无病态造血。MDS外周血单核细胞增多，骨髓增生良好，具有多系病态造血；ALIP、巨核细胞形态异常及红系同一阶段发育幼红细胞岛伴纤维组织增生是其特征。pre - ALL具有CAA和MDS的临床及实验室特点，但在短期内转变为ALL又与之不同。     

儿童骨髓增生异常综合征28例临床分析

目的：探讨儿童骨髓增生异常综合征(MDS)的临床特点、诊断及治疗。方法：回顾性分析2006年1月至2012年3月确诊的28例MDS患儿的临床症状、体征、实验室检查、治疗及疾病转归。结果：患儿临床表现主要为贫血（96%）、出血（68%）、发热（68%）或肝脾肿大（61%）。3例（11%）患儿分别转变为急性单核细胞白血病（M5）、红白血病（M6）、急性巨核细胞白血病（M7）,转为白血病的时间为1~2个月。患儿骨髓增生程度以活跃和明显活跃为主,病态造血以一系和二系病态为主;铁代谢存在明显紊乱;染色体异常核型检出率为45%,以数量异常为主;T细胞、B细胞、NK细胞总数减低,Th细胞表达减低,Ts细胞表达增高,Th /Ts比值倒置。8例患儿确诊后即放弃治疗;8例仅予对症支持治疗,其中1例失访,1例疾病稳定,6例疾病进展;诱导分化和刺激骨髓造血各1例,均发生疾病进展;10例行化疗,其中2例单药化疗,骨髓均无缓解,另8例联合化疗,其中4例骨髓部分缓解或完全缓解。结论：儿童MDS具有临床表现不典型、转为白血病风险高的特点;骨髓增生程度以活跃为主;病态造血以一系和二系病态为主;染色体畸变以数量异常为主;铁代谢明显紊乱,细胞免疫异常。多药联合化疗可延缓病程。     

bcr/abl融合基因阳性急性淋巴细胞白血病的临床特点

目的总结bcr/abl融合基因阳性急性淋巴细胞白血病(ALL)患儿临床特点,探讨其治疗及预后的相关因素。方法对经巢式逆转录聚合酶链反应(RT-PCR)方法检测bcr/abl融合基因阳性ALL患儿临床表现、治疗、预后进行回顾性分析。结果bcr/abl融合基因阳性ALL患儿20例。中位年龄9岁,普通B细胞型ALL 19例(95%);治疗d33骨髓完全缓解率为66.7%,16例中7例复发(45%),持续缓解时间2年以上6例;5例接受造血干细胞移植(HSCT),均骨髓复发;6例存活患者中均为单纯化疗,bcr/abl融合基因已转阴。1例T细胞表型患儿于化疗缓解3个月骨髓复发,接受移植术后1个月骨髓再次复发。结论bcr/abl融合基因阳性ALL患儿化疗效果差,难缓解,复发率高,预后差,T细胞表型预后更差。部分对化疗敏感的患儿bcr/abl融合基因持续阴性。异基因HSCT复发率也较高。     

肿瘤

951213聚合酶链反应检测急性淋巴细胞白血病T细胞受体基因重排分析/荆科…//中国实用儿科杂志一1994,9(4)一238~239 应用聚合酶链反应(PCR)检测ALL中的TCR一己基因重排,7份骨髓和骨髓涂片标本,其中初发和未缓解的急性淋巴细胞白血病(ALL)各l例,完全缓解的ALLI例,对照组用2例急性非淋巴细胞白血病(AN-LL),1例血小板减少性紫瘫(l TP)和1例正常儿童。结果显示:初发的1例ALL和未缓解的1例ALL均发现一条约35obp的扩增带,而对照标本2例ANLL、1例rrP和1例正常儿童均未出现相应的扩增带。参4(张亚菲) 951214血清肿瘤坏死因子在小儿急…     

脐血造血干细胞移植患儿骨髓抑制期护理

脐血造血干细胞移植是目前根治小儿白血病、恶性肿瘤及再生障碍性贫血的最有效方法之一。自 1998年 8月— 2 0 0 0年 7月我科移植组收治了 5例脐血造血干细胞移植患儿 ,经过精心治疗及细心护理 ,全部安全顺利渡过了骨髓抑制期 ,现总结如下。1　临床资料5例脐血造血干细胞移植患儿中男1例 ,女 4例。年龄 3岁至 11岁间 ,其中急性淋巴细胞性白血病 (ＡＬＬ Ｌ2 ) 2例 ,恶性淋巴肉瘤白血病 1例 ;神经母细胞瘤骨髓转移 2例。由于超大剂量化疗预处理 ,患儿外周血三系减少 ,在骨髓抑制期出现各种临床症状如 :贫血加重、全身感染、精神萎靡、周身疲…     

7例婴儿急性淋巴细胞白血病的临床分析

目的总结我科7例婴儿急性淋巴细胞白血病(ALL)的临床及实验室检查特点,探讨其治疗及预后的相关因素。方法回顾性分析2011年1月—2017年7月徐州市儿童医院血液肿瘤内科收治的7例婴儿ALL的临床表现、实验室检查、治疗及预后。结果 7例婴儿ALL,初诊年龄3～11个月,平均发病年龄5个月。临床表现为贫血、发热、出血、肝脾肿大,其中1例患儿就诊时白细胞大于300×10~9/L。7例骨髓形态学诊断后进一步完善了免疫学、细胞遗传学、分子生物学检查。免疫分型均为B细胞性ALL,其中有5例患儿存在MLL基因重排。2例患儿诊断后放弃治疗,1例在诱导化疗中放弃治疗,其余4例接受治疗的患儿,例2完全缓解(52个月)至今,例1完全缓解31个月后骨髓复发,例3在诱导缓解后因重症肺部感染死亡,例4诱导缓解后行脐血干细胞移植治疗,随访至今完全缓解(14个月)。结论婴儿ALL儿童白血病中罕见,我科该类患儿占同期初诊白血病的2. 0%,临床特征与其他类型白血病不同,7例中仅4例完成诱导化疗并接受后续化疗,1例缓解后复发,1例早期死亡,仅2例无病生存,预后差,复发率高。     

急性淋巴细胞白血病患儿化疗结束后T淋巴细胞克隆谱系分析

目的了解急性淋巴细胞白血病(ALL)患儿化疗结束后T淋巴细胞免疫重建情况。方法逆转录-聚合酶链反应(RT-PCR)高压变性聚丙烯酰胺凝胶电泳法检测8例正常对照及44例化疗结束后的ALL患儿外周血T细胞受体(TCR)β链可变区(BV)第三互补决定区(CDR3)的克隆谱系。结果白血病化疗结束至48个月TCRBV家族仍可见表达增高或降低(P均0.05)。化疗结束后TCRBVCDR3谱型多态性基本恢复,但寡克隆增生情况仍明显高于正常对照组(P均0.05),小于6个月组差异最明显(P均0.05)。16例普通B细胞急淋(c-ALL)BV8、BV5.1、BV5.2和BV12发生克隆性增生的频率较高,9例前B细胞急淋(pre-B)BV6家族发生克隆性增生较多。结论白血病患儿化疗结束至48个月T细胞免疫尚未完全恢复;T细胞克隆谱系异常以寡克隆增生为主。     

10例伴TLS-ERG融合基因阳性儿童急性白血病临床病例分析

目的探讨TLS-ERG融合基因对于儿童急性白血病的影响。方法回顾及总结分析2006年1月-2014年12月在北京儿童医院血液肿瘤中心诊断急性白血病且TLS-ERG融合基因阳性患儿的临床特征、治疗、危险度评估及预后。结果 1500例急性白血病患儿中检测出10例(0.6%)伴有TLS-ERG融合基因,其中男7例,女3例,中位年龄8岁,急性淋巴细胞白血病(ALL)6例,急性髓细胞白血病(AML)4例。6例ALL患儿中,免疫分型:4例为普通B淋巴细胞表型,1例为前B淋巴细胞表型,1例为带髓系标记的B淋巴细胞表型;危险度评估:2例为标危,4例为中危。4例AML患儿中,3例为AML-M2型,1例为AML-M5型。ALL患儿按照中国儿童白血病协作组(CCLG)-ALL 2008方案进行化疗,6例均在诱导缓解期达到完全缓解,按照化疗方案规律治疗,定期检测微小残留病(MRD)均小于1×10~(-4)。4例AML患儿中,2例患儿在第一疗程ADE(阿糖胞苷+柔红霉素十依托泊苷)化疗第21d复查骨穿提示未缓解,放弃治疗;1例患儿完成第一轮ADE化疗后骨髓完全缓解,按照化疗方案完成两轮ADE、MIT+ARA(米托蒽醌+阿糖胞苷)、CLASP(阿糖胞苷+左旋门冬酰胺酶)化疗后复发,后放弃治疗;1例患儿第一疗程化疗后完全缓解,后经过2疗程ADE、MIT/ARA、CLASP后骨髓细胞学完全缓解,TS-ERG融合基因仍阳性,故行父亲6/10HLA半相合造血干细胞移植,随访至今。结论 TLS-ERG融合基因在儿童急性白血病中阳性率低,但在ALL及AML患儿中均可发生。根据本中心资料,该融合基因对于ALL患儿的治疗及预后影响不大,但伴有TLS-ERG融合基因的急性髓细胞白血病患儿治疗困难,预后较差。该融合基因发生率较低,单中心资料有限,故需要多中心更大宗的资料进一步证实。     

WT1基因在恶性造血系统疾病儿童中的表达及其意义

目的探讨WT1基因在儿童恶性造血系统疾病中表达的意义。方法采用巢式RT-PCR观察104例恶性造血系统疾病患儿WT1基因表达的相对水平;其中男69例,女35例;年龄1.5～14.0岁;同期检测72例成人恶性造血系统疾病患者作比较,选择12例健康体检者及10例非恶性造血系统疾病患儿骨髓标本或外周血作阴性对照(男9例,女13例;年龄3～12岁)。结果68例急性白血病(AL)患儿中WT1阳性表达49例(72.1%),3例慢性粒细胞白血病(CML)表达阴性,23例恶性淋巴瘤中7例阳性(30.4%),10例骨髓增生异常综合征(MDS)中阳性3例(30.0%),AL与MDS、CML及恶性淋巴瘤WT1阳性表达率比较差异均有显著性意义(Pa<0.01);而在健康体检者及造血系统非恶性造血系统疾病患儿中均表达阴性。各组与成人患者比较无年龄上差异(Pa>0.05),WT1基因表达在ALL均阴性,与急性粒细胞白血病(ALL)比较无显著性差异,在MDS中难治性贫血组显著低于原始细胞增多性难治性贫血及转化型原始细胞增多性难治性贫血(Pa<0.05)。结论WT1基因在恶性造血系统疾病患者中高表达,可作为检测AL微小残留及预测复发的肿瘤标志物;其与MDS疾病进程关系密切,并可作为对MDS疾病发展的高危评估指标之一。     

Parvovirus B19 infection as a cause of anemia in pediatric acute lymphoblastic leukemia patients during maintenance chemotherapy

PURPOSE: Persistent parvovirus B19 tends to occur in immunocom-promised patients and manifests as pure red cell aplasia and chronic anemia. This study aimed to detect the contribution of parvovirus B19 infection to anemia in children with acute lymphoblastic leukemia (ALL) receiving chemotherapy. PATIENTS AND METHODS: Two groups of ALL patients were studied during maintenance chemotherapy: 50 patients with persistent anemia (ie, extending for >2 weeks) and 34 patients without anemia (controls). Serum parvovirus B19 IgG and IgM were investigated by an enzyme-linked immunosorbent assay, and the virus DNA was sought in bone marrow cells by a nested polymerase chain reaction assay. RESULTS: Parvovirus B19 DNA was detected in 11 of the 50 (22%) ALL children with anemia, 4 of whom were also IgM positive. In addition, IgM positivity was observed in nine (18%) other children who were negative for parvovirus B19 DNA. The children without anemia were found to be significantly different than those with anemia in terms of parvovirus B19 DNA positivity and DNA + IgM positivity (P = 0.03 and 0.01, respectively). IgG was found to be positive in a total of 19 (38%) cases, with B19 DNA present in 6 of them. CONCLUSIONS: These findings indicate the high frequency of parvovirus B19 in anemia in children with ALL and the importance of testing for its DNA in the bone marrow cells together with IgG and IgM antibodies in the serum of immunocompromised patients. It is important to consider parvovirus B19 infections as a cause of anemia and suppressed erythropoiesis in children with ALL who are receiving ongoing treatment.     

Acute Leukemia with Normal Platelet Count at Diagnosis

Thirty-six (17.8%) of 202 children with acute lymphoblastic leukemia (ALL) and 2 (3.7%) of 54 children with acute nonlymphoblastic leukemia (ANLL) had a platelet count over 150 times 10⁹/1 at diagnosis. Children with ALL and a platelet count over 150 times 10⁹/1 were analysed in detail. The ALL patients without thrombocytopenia tended to be male predominant and had less frequent bleeding manifestations (p < 0.01).These patients without thrombocytopenia had also significantly less marked leukocytosis (p < 0.01), less severe anemia (p < 0.05) and lower percentages of bone marrow blasts (p < 0.05) than those with thrombocytopenia. In addition, ALL patients without thrombocytopenia had a significantly higher probability of continuous complete remission than those with thrombocytopenia (p < 0.01).     

Allogeneic bone marrow transplantation in children: single institution experience from 1974 to 1992

At the Children's Hospital, University of Helsinki, Finland, bone marrow transplantations have been performed since 1974. Between 1974 and 1992, 62 children received allogeneic bone marrow grafts. Median patient age was 9.3 years. Thirty-two patients had ALL, 13 AML and 11 had severe aplastic anemia (SAA). Graft failure occurred in 4 of the 62 patients. The overall long-term survival rate was 47%. Relapse of leukemia was the most common cause of death, especially in patients with ALL transplanted in second or later remission. Deaths during the first 2 months after transplant have decreased with time. In a small country such as Finland, it is important to centralize the experience of allogeneic BMTs, particularly for pediatric patients.     

白细胞介素-8及其受体在小儿急性白血病骨髓单个核细胞中的表达和临床意义

目的：探讨白细胞介素8(IL8)及受体(IL8R)在小儿急性白血病骨髓单个核细胞中的表达和临床意义。方法：RTPCR法检测32例急性白血病骨髓单个核细胞IL8,IL8RmRNA表达。结果：急性髓系白血病(AML)组中有5例表达IL8(5/10),4例表达IL8R(4/10);急性淋巴细胞白血病(ALL)组中有13例表达IL8(13/22),9例表达IL8R(9/22)。IL8在急性髓系白血病组中的表达水平高于急性淋巴细胞白血病组,差异有显著性(P<0.05)。AML组中M4M5亚型中的表达水平高于M2M3,差异有显著性(P<0.05)。ALL组中B系列ALL表达水平高于TALL,差异有显著性(P<0.05)。化疗后患儿骨髓单个核细胞IL8,IL8R水平显著低于化疗前(P<0.05)。结论：小儿急性白血病有IL8,IL8R的表达,IL8尤其在AML组M4M5亚型及B系列ALL更明显,化疗后两者水平显著下降。     

Bone marrow failure in children with acute liver failure

BACKGROUND: Aplastic anemia is a rare but well-recognized complication of acute hepatitis and acute liver failure. The cause is unknown, and the condition is fatal without bone marrow recovery. Treatment includes immunosuppression regimens or bone marrow transplantation. The purpose of this study was to investigate the incidence, cause, treatment, and outcomes of this disorder in children. METHODS: Retrospective chart review of 75 patients with acute liver failure in a major pediatric liver center. RESULTS: Eight patients had evidence of bone marrow failure. Of those, six had aplastic anemia, and two had transient bone marrow suppression. There were five boys, median age 57 months (range, 36-132 months). Two had parvovirus B19, six had non-A, non-B, non-C hepatitis. Five underwent liver transplantation: auxiliary in one, orthotopic in four. The interval between initial symptoms and development of aplastic anemia and/or bone marrow suppression was 21 to 99 days (median, 39 days). Four patients with aplastic anemia received intravenous antithymocyte globulin (ATG) or antilymphocyte globulin (ALG). Median recovery period of granulopoiesis was 62 days (range, 27-115 days). Two made a full recovery, one had myelodysplasia, and one with unresponsive disease died of septic complications. Four did not receive ATG/ALG, two had aplastic anemia, and two had bone marrow suppression. Three underwent liver transplantation, and all four resumed granulopoiesis. One child who underwent liver transplantation died of sepsis with chronic rejection. Median recovery of granulopoiesis was 99 days (range, 20-153 days). CONCLUSIONS: Bone marrow failure occurs in 10.7% of children with acute liver failure. It sometimes occurs in association with non-A, non-B, non-C hepatitis and parvovirus B19 infection. Treatment with ATG/ALG is successful and is well tolerated in most cases.     

Parvovirus B19 infection presenting as pre-B-cell acute lymphoblastic leukemia: a transient and progressive course in two children

Parvovirus B19 is the causative agent of various forms of hematologic diseases such as aplastic crisis in patients with hemolytic anemia, aplastic anemia, hypoplastic anemia, and idiopathic thrombocytopenic purpura. In addition, parvovirus B19 infection may precede or be associated with acute lymphoblastic leukemia (ALL). The authors present two cases of parvovirus B19 infection and bone marrow infiltration with pre-B-cell lymphoblasts; one patients was diagnosed as having ALL, and the other patient, with neurologic findings, showed total resolution of the blastic morphology and phenotype.     

Immunohistochemical Detection of Post-Therapy Residual Testicular Lymphoblasts in Childhood Acute Lymphoblastic Leukemia (All)

The aim of this study was to evaluate the diagnostic value of immunohistochemistry with monoclonal antibodies (MoAbs) in detecting residual blast cells in testicular biopsies from children with acute lymphoblastic leukemia (ALL). In a prospective study of 26 patients, testicular biopsies were performed after completion of therapy, and the average follow-up after biopsies was 29 months. After immunostaining, seven patients with negative biopsies on routine histology showed scattered, strongly calla-positive cells as well as cells reacting with anti-B (CD22) MoAb. Among these seven patients with residual blast cells, four had relapsed either in testes (n = 1), bone marrow and testes (n = 1), or in the bone marrow (n = 2). In contrast, among the 15 patients without residual blast cells, all but 1 remained in complete remission. In four other cases no definite conclusion was possible after immunohistochemical study. Four testicular biopsies from patients with occult infiltration were used as positive controls. Negative controls consisted of testicular biopsies from children with testicular ectopia and postmortem testicular tissue specimens. Results suggest that the risk of relapse is significantly higher in patients with positive immunohistochemical findings indicating persistent residual blast cells. However, the predictive value of these findings requires confirmation on a larger number of cases to have therapeutic implications.     

A phase II study of diaziquone in childhood leukemia: a report from the Children's Cancer Study Group

Diaziquone (aziridinylbenzoquinone, AZQ) was given by 30-min infusion at 25 mg/m2/day on a daily x 5 schedule to 16 children with acute lymphoblastic leukemia (ALL) in bone marrow relapse, 16 children with acute nonlymphocytic leukemia (ANLL) in bone marrow relapse, and 1 child with chronic myelocytic leukemia in blast crisis. None of the children achieved bone marrow remission. Five children (four with ALL and one with ANLL) were also evaluable for the response of central nervous system leukemia; all had a significant reduction in the cerebrospinal fluid blast count. Mild transient transaminase elevation was commonly seen. Grade 3 and 4 hyperbilirubinemia was seen in association with sepsis. AZQ was ineffective for induction of bone marrow remission as utilized in this study.     

Aplastic anemia—An early phase preceding acute lymphatic leukemia

A rare presentation of acute lymphatic leukaemia (ALL) in three children is described. These children initially presented with fever and pallor. The bone marrow aspiration and or biopsy were consistent with aplastic anemia. Children were treated with oxymethalone, prednisone either singly or in combination. On follow up these cases developed overt ALL between 18 days to 16 months. Relative merits of oxymethalone or prednisone therapy during the aplastic phase of acute lymphatic leukaemia have been discussed.