急性淋巴细胞白血病染色体分析及其临床意义

目的 研究儿童急性淋巴细胞白血病（ALL）染色体变化，探讨其临床意义。方法 通过直接法或短期培养法对40例ALL患儿骨髓细胞进行染色体分析并观察临床疗效。结果 40例ALL患儿染色体异常检出率70％（28／40），其中数目异常50％，结构异常35．7％，数目合并结构异常14．3％，核型正常组及超二倍体组患儿缓解率高于亚二倍体组及假二倍体组，具有显著统计学意义（P＜0．01），亚二倍体及t(9;22)核型为预后不良因素。结论 染色体分析对儿童ALL预后及治疗具有指导意义。     

儿童急性非淋巴细胞白血病染色体与临床预后分析

目的 研究儿童急性非淋巴细胞白血病(ANLL)染色体变化及预后。方法 通过短期培养法对43例ANLL患儿骨随细胞进行染色体核型分析，并观察临床疗效。结果 43例ANLL患儿染色体核型异常检出率为74％(32／43)，结构异常与白血病类型有特殊的对应关系；其中结构异常50％，数目异常31％，数目并结构异常19％，核型异常率与性别无关(P＞0．05)；核型正常组及超二倍体组患儿缓解率高于核型异常组(P＜0．01)，核型正常、超二倍体t(15；17)易位者疗效较好，亚二倍体及t(8；21)易位者疗效较差。结论 染色体分析对指导ANLL的治疗及预后判断具有重要作用。     

儿童急性淋巴细胞白血病预后因素的研究进展

研究证实，影响儿童急性淋巴细胞白血病（ALL）比较肯定的预后因素主要有年龄、性别、初诊时外周血白细胞数、FAB分型以及一些细胞免疫学、遗传学、分子生物学方面的指标，如Ph^ 、ALL基因重排、Tel/Aml-1融合、染色体数＞50、P170以及所采用的治疗方法；另外，一些分子生物学指标如CD10、CD2、P16、MDM2等也可能与儿童ALL的预后有关联。     

儿童急性淋巴细胞白血病细胞周期分布及临床预后的研究

目的 研究儿童急性淋巴细胞白血病（ALL）骨髓细胞DNA含量和倍性情况,了解其生物学意义及与临床预后的关系。方法 取29例初诊ALL儿及10例骨髓像正常的非白血病患儿的骨髓细胞,采用流式细胞术测定,获取各标本细胞周期时相百分比。本组资料平均随访48个月。结果 29例初诊ALL儿检出8例为超二倍体,对照组无异倍体检出。ALL儿的G0／G1％明显高于对照组（P＜0.01）,S％和S＋G2／M％则明显低于对照组（P＜0.01）。经随访发现,初诊DI＞1.08的患儿死亡率为225,DI＜1.08的患儿死亡率为40％,但统计学显著性检验无明显差异（P＝0.311）。初诊G2／M％＞4.0的患儿死亡率为12.5％,G2／M％＜4.0的患儿死亡率为42.7％,但统计学显著性检查无明显差异（P＝0.135）。结论 儿童ALL儿DNA测定对临床预后有一定指导作用。     

急性淋巴细胞白血病免疫表型与临床表现及预后的关系

目的 分析儿童急性淋巴细胞白血病(ALL)免疫表型与临床表现及预后关系。方法 用流式细胞术对76例儿童ALL进行免疫分型；使用PCR技术探测IgH和TCRδ的重排。结果T—ALL8例(10.53％)，B—ALL(85.50％)例，T/B混合3例(0．04％)，76例ALL中髓系抗原阳性率为26.3％;T—ALL与B—ALL白细胞数、血红蛋白、血小板、肝脾大和抗原受体基因重排率均无差异(P＜0.05)；CD10(—)的B—ALL的TCRδ阳性率高于CD10（ ）)的B—ALL(P＝0．042)；髓系抗原的表达与临床表现及无病生存时间无关；T—ALL无病生存率低于B—ALL（P=0.001)。结论 T—ALL较B—ALL的无病生存时间短；髓系抗原的表达与临床表现及无病生存时间无关；CD10的表达与TCRδ的表达率有关。     

急性淋巴细胞白血病患儿长期疗效分析

目的分析70例ALL患儿分型治疗的长期疗效和远期不良反应,以寻求提高患儿长期高质量无病生存的方法。方法随访并分析2000年1月-2009年12月在本院儿科血液/肿瘤病房诊断并坚持治疗的70例ALL患儿情况。临床分型:标危型、中危型、高危型和ALL-L3型患儿分别为42、12、7例和9例。采用Kaplan-Meier方法进行长期生存情况分析。结果 5 a无事件生存率在标危组、中危组和ALL-L3组分别为(93.87±4.22)%、(85.33±6.45)%和(88.89±7.48)%。高危型患儿目前无病存活率为42.86%(3/7例)。复发6例(8.57%),其中死亡4例,另有5例无复发死亡,总病死率12.86%。长期不良反应观察未发现二次肿瘤及蒽环类心肌病发生,4例(5.71%)患儿生长受限,1例患儿发生单侧股骨头无菌性坏死。结论分型治疗可提高ALL患儿长期生存率,改善ALL患儿生存的质量。     

儿童急性淋巴细胞白血病患儿脑脊液状态与预后的关系

目的 探讨流式细胞学检测儿童急性淋巴细胞白血病（ALL）中枢神经系统浸润阳性（CNSI⁺）患者的临床特征及其与预后的关系。方法 回顾性收集2008年4月至2013年6月CNSI⁺ALL患儿66例临床资料,对不同化疗阶段即诱导期、巩固维持期患儿的临床特征、实验室检查及预后进行比较分析。结果 66例CNSI⁺ALL患儿中,诱导期50例,巩固维持期16例。分子生物学结果显示巩固维持期CNSI⁺患儿预后良好基因比例明显高于诱导期患儿（P < 0.05）,巩固维持期患儿复发率明显高于诱导期患儿（P < 0.05）。21例CNSI⁺ALL患儿复发,其中诱导期10例,巩固维持期11例,巩固维持期复发患儿中枢神经系统合并骨髓的复发比例明显高于诱导期复发患儿（P < 0.05）,巩固维持期复发患儿脑脊液生化阳性率明显高于诱导期复发患儿（P < 0.05）。诱导期患儿无复发生存（RFS）率明显高于巩固维持期（P < 0.001）,两组总体生存（OS）率比较差异无统计学意义（P > 0.05）。结论 ALL患儿CNSI⁺对不同化疗阶段RFS率有影响,但对OS率无明显影响;巩固维持期出现CNSI⁺的患儿复发率高,临床上应引起重视。     

儿童急性淋巴细胞性白血病的预后评估及其临床价值

对急性淋巴细胞性白血病(ALL)患儿进行预后评估,从而寻找最恰当的化疗强度以减少过度化疗带来的不良反应是目前ALL研究的一个方向.除了年龄、性别、外周血象、有无中枢浸润、早期治疗反应以及微小残留灶等因素外,许多基因、分子水平的预后评估因素也在逐渐显露其临床价值,如ALL患儿的免疫表型、遗传亚型、基因表达模式以及遗传药理学等.该文即对以上预后因素及其临床价值进行综述.     

儿童高危型急性淋巴细胞白血病复发危险因素及预后分析

目的　探讨高危型儿童急性淋巴细胞白血病 (ALL)的预后特点及对临床治疗的指导意义。方法　对 8年间在我院初治、规律化疗并结束治疗的 3 5例高危型 (HR)ALL患儿的预后进行比较 ,分析高危B ALL与T ALL预后的差异性及特点。结果　规律化疗的 2 3例高危B ALL患儿中 ,12例复发 ,其中 11例为髓内复发 ,1例髓外复发 ,平均复发时间为 16 1个月 ;规律化疗的 12例高危T ALL患儿中有 10例复发 ,其中 7例髓外复发 ,3例髓内复发 ,平均复发时间为 6 6个月 ,两组在复发部位及复发时间上明显不同。结论　高危型T ALL患儿较B ALL复发早 ,多为髓外复发 ,针对高危型T ALL患儿 ,除加强诱导和早期强化外 ,必须早期加强髓外放疗和化疗。     

儿童pro-B急性淋巴细胞白血病的临床特点及预后分析

目的 探究儿童pro-B急性淋巴细胞白血病（pro-B-ALL）的临床特点及预后影响因素。方法 回顾性选择64例年龄 < 18岁的pro-B-ALL患儿为研究对象,分析其临床特点、治疗和预后,以及生存率的影响因素。结果 pro-B-ALL患儿占儿童急性淋巴细胞白血病的6.23%（64/1 028）。64例患儿中男35例,女29例,中位确诊年龄7.0（范围0.4~16.0）岁,其中≥ 10岁和 < 1岁者分别占39%和6%,中位初诊白细胞计数25.5（范围0.4~831.9）×10⁹/L,其中≥ 50×10⁹/L者占35.9%。MLL-r阳性是最常见的分子遗传学异常（34%,22/64）,常伴CD22、CD13低表达和CD7高表达,其中MLL-AF4阳性者常伴CD33低表达。64例患儿中位随访时间60.0（范围4.9~165.3）个月,5年总生存（OS）率及无事件生存（EFS）率分别为（85±5）%和（78±5）%。多因素分析显示,化疗3个月微小残留病≥ 0.1%是影响pro-B-ALL患儿5年OS率和EFS率的独立危险因素（P < 0.05）。结论 儿童pro-B-ALL具有独特的临床和生物学特征。初诊时的免疫抗原、分子遗传学异常及化疗3个月微小残留病水平是影响远期疗效的重要因素。     

Prognostic value of chromosome aberrations in childhood acute lymphoid leukemia (ALL)

Cytogenetic analyses were performed on 43 children with acute lymphoblastic leukemia (ALL) before starting the therapy. Evaluable metaphases were obtained in 26 cases (60.46 %). The prognostic value of the initial chromosome picture and that of the different non-cytogenetic prognostic features was studied. In 14 out of 26 children (53.85 %) clonal chromosomal aberrations were found. The prognosis in the normal and normal/abnormal groups was significantly better than in patients with only abnormal cells. They found the remission rate of the diploid and hyperdiploid groups to be better and the survival duration significantly longer than in the pseudodiploid patients. Studying the correlation between the cytogenetic and non-cytogenetic findings the diploidy and hyperdiploidy seems to associate with low risk factors, while pseudodiploidy with high risk factors. When opposite cytogenetic and non-cytogenetic prognostic parameters were associated, the outcome of disease was determined by the cytogenetic picture. In eight patients out of the 14 children with abnormal karyotype various specific aberrations were found. While patients with specific translocations had a poor prognosis, the prognosis of the patients with 6q- was relatively good. The findings support the necessity of chromosome examination in all the children with ALL at diagnosis in order to distinguish the poor risk patients from the good ones.     

儿童肝母细胞瘤36 例预后分析

目的探讨肝母细胞瘤(HB)患儿的预后。方法回顾性收集2010年9月至2015年2月初治HB患儿的病历及随访资料,总结临床疗效和预后。结果共纳入HB患儿36例,男23例、女13例,中位年龄20个月。36例患儿的中位随访时间37个月(7~71个月)。36例患儿死亡8例,参照美国儿童肿瘤研究组(POG/CCG)亚组分析,Ⅰ、Ⅱ期患儿预后明显好于Ⅲ、Ⅳ期,胎儿型患儿预后明显优于其他亚型(P0.05)。35例患儿疾病初期甲胎蛋白(AFP)水平增高,存活者治疗后AFP水平均降至正常;8例死亡患儿中3例复发后AFP水平增高,5例经辅助化疗AFP水平持续不降。初诊时乳酸脱氢酶(LDH)升高组(245 U/L)及C反应蛋白(CRP)升高组(5 mg/L)存活率明显低于正常组,天冬氨酸氨基转移酶(AST)≥80 U/L的患儿存活率明显低于AST80 U/L的患儿,差异均有统计学意义(P0.05)。结论血清AFP可作为HB复发和预后的监测指标。POG/CCG分期、病理分型是评估HB预后的重要因子,血清LDH、CRP、AST水平升高可能与HB患儿预后不良有关。     

Bone marrow karyotypes of children with nonlymphocytic leukemia.

Bone marrow (BM) karyotypes from 16 consecutive children presenting with nonlymphocytic leukemia were established with the use of banding techniques, before therapy. The two patients with chronic myeloid leukemia (CML) showed the Philadelphia (Ph1) translocation (9q+;22q-). Five of the 14 patients with an acute nonlymphocytic leukemia (ANLL) presented no acquired cytogenetic abnormalities, but one of these five showed a high level of hypodiploidy. One patient with AML evidenced a variant of the Ph1 chromosome originated as a translocation (12p+;22q-). Nonrandom abnormalities (-7; 7q-; +8; t(8;21); -21) were found in six patients, isolated or in association with otheraberrations. Among the random abnormalities, apparently balanced translocations and chromosomal deletions were observed. In ANLL, no correlation could be found between morphologic diagnosis and cytogenetic findings. On the other hand, the presence of BM cells with a normal karyotype at diagnosis was associated with an improved remission rate and survival time. Followup studies were performed in four ANLL patients with an abnormal cell clone at diagnosis. Three of them achieved hematologic remission; their BM karyotype was found to be normal at that stage. In the 4th patient, generalization of the abnormal karyotype in BM cells was seen in the terminal phase of the disease.     

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目的分析无症状尿检异常患儿的肾脏病理,了解无症状尿检异常患儿的病理改变和临床表现的关系。方法回顾性分析上海交通大学医学院附属新华医院儿内肾脏科2004年1月至2010年12月172例无症状尿检异常患儿临床资料,根据尿检结果分为单纯性血尿组(149例,86.6%)、单纯性蛋白尿组(7例,4.1%)和血尿合并蛋白尿组(16例,9.3%),所有患儿排除感染、结石、肿瘤及继发性肾炎并进行肾活检作光镜、免疫病理和电镜检查。结果 172例患儿的病理分型显示:肾小球轻微病变115例(66.9%)、局灶节段性肾小球硬化22例(12.8%)、IgA肾病13例(7.6%)、局灶球性肾小球硬化11例(6.4%)、薄基膜病4例(2.3%)、其他7例(4.1%)。血尿合并蛋白尿组中肾小球轻微病变占31.3%,IgA肾病占50%。单纯性血尿组中肉眼血尿患儿的肾脏病理中肾小球轻微病变和局灶节段性肾小球硬化分别占56.3%和25.0%。结论幼儿园入园尿检和入学尿检有利于早期发现慢性肾脏疾病。尿检异常中单纯性血尿需要密切随访,血尿合并蛋白尿和肉眼血尿患儿的应尽早进行肾组织穿刺活检。     

MRI diagnosis of bone marrow relapse in children with ALL

Background Diffuse marrow replacement in acute leukemia is well known, but there are few reports describing the MRI features of pediatric leukemic relapse. Objective Our purpose was to describe the MRI appearance of pediatric leukemic relapse. Materials and methods A total of 53 consecutive children with a history of ALL were referred for musculoskeletal MRI from 1 January 1998 to 28 February 2007 at one center, and from 1 January 2000 to 2 May 2007 at a second center. From this group, 14 children seen at initial diagnosis of leukemia and 2 children who underwent MRI after therapy for relapse were excluded. The remaining 37 children, 8 with relapse and 29 in remission, were studied. Images of patients with relapse and in remission were reviewed for type and configuration of marrow infiltration; coexisting marrow alterations including osteonecrosis or stress reaction were also reviewed. Results All eight children with relapse demonstrated nodular lesions with well-defined margins. Coexisting osteonecrosis was present in three children (38%) and pathologic fracture in one. Among the 29 children in remission, 9 showed stress reaction/fracture, 14 showed osteonecrosis and 9 showed ill-defined nodules, and in 5 the marrow was completely normal. Conclusion Well-defined nodules in all patients with leukemic relapse suggest that this appearance is characteristic and distinct from the published findings of diffuse marrow replacement in acute leukemia.     

46,XX男性综合征临床与细胞遗传学特征:附3例报告

46，XX男性综合征是一种少见的性反转异常疾病，患者以男性为表现型，并具有睾丸组织，而染色体核型为正常女性46，XX。儿童患者往往以外生殖器异常作为主诉，成年患者通常是由于性功能不全、女性型乳房或影响婚育等前来就诊。现通过3例患者的临床和细胞遗传学研究，综合分析46，XX男     

Intussusception in children with ALL receiving chemotherapy for acute lymphoblastic leukaemia

Acute abdominal complications of chemotherapy are common but the differential diagnosis wide. We describe two cases of intussuception of the bowel in children receiving chemotherapy for acute lymphoblastic leukaemia (ALL) and discuss how a high clinical suspicion is critical for the correct diagnosis to be made rapidly.     

Suspected infections in children treated for ALL

Aim:  The aim of our study was to get epidemiological information on bacterial infections in children treated for ALL and to analyse which patients have an enhanced infection risk.
Methods:  Episodes of suspected or confirmed infections were evaluated during the first 12 months of treatment for childhood acute lymphoblastic leukaemia (ALL).
Results:  The number of patients was 73 (43 boys). The median age was 4.6 years. A total of 179 episodes occurred, varying from none in six patients to eight in one. Bacteria were cultured in 57 episodes (31.8%), the most common being coagulase-negative staphylococci. The number of episodes fell significantly with increasing age for suspected and confirmed infections (p < 0.001 and p = 0.03). The proportion of confirmed infections was significantly higher (p < 0.001) in the first episodes. The average number of suspected infections was higher in girls than in boys (p = 0.03), but confirmed infections were not.
Conclusion:  Most of the serious infections occur early in the treatment and the number of suspected and confirmed infections falls with age. Suspicion of infection is more likely in girls, but the number of confirmed infections is equal in both sexes. Coagulase-negative staphylococcus was most commonly isolated, highlighting the importance of careful handling of central venous devices.