急性淋巴细胞白血病患儿染色体改变及预后分析

目的应用染色体核型分析技术,探讨染色体核型异常对儿童急性淋巴细胞白血病(ALL)患儿预后判断的意义。方法回顾性分析2007年-2014年收治的初诊且伴染色体异常ALL患儿共65例的临床资料。结果 (1) 65例异常核型中单纯数目异常者21例(32%),单纯结构异常者14例(22%),数目及结构同时异常者30例(46%);(2)染色体结构异常者中,t(12;21)2例,t(9;22)6例,t(1;19)3例,t(4;11)2例。染色体数量异常者中,超二倍体核型最多,有29例(57%);(3)至随访截止时间,本组病例中生存49例,死亡11例,失访5例,复发9例。超二倍体和t(12;21)预后好,亚二倍体、t(1;19)和t(4;11)预后差;(4)本组患儿融合基因阳性22例,包括BCR/ABL6例,MLL2例,TEL/AML1 8例,E2A/PBX1 6例。与染色体结果比对,8例TEL/AML1仅测得2例t(12;21),6例E2A/PBX1中测得2例t(1;19),另外一例t(1;19)对应的融合基因阴性。结论 (1)本组ALL患儿染色体改变以数目及结构同时异常为主,数目异常中以超二倍体核型最为常见。(2)染色体核型与ALL预后有密切联系。(3)t(12;21)及t(1;19)染色体检测阳性率低于融合基因阳性率。     

50例儿童急性淋巴细胞白血病免疫分型、染色体核型及融合基因与预后分析

目的分析急性淋巴细胞白血病(ALL)免疫表型、染色体核型和融合基因在儿童ALL预后中的意义。方法收集2016年1月—2017年12月我院新发ALL患儿66例,除外未完成VDLP诱导即放弃治疗或转外院就诊者16例,50例纳入研究范围,其中男33例,女17例,平均年龄5. 4(0. 5～3)岁。采用FCM检测ALL细胞免疫表型,染色体R带核型分析,RT-PCR法检测43种ALL融合基因和33种Ph-like ALL相关融合基因,FISH检测MLL、BCR-ABL,TCF3-PBX1(E2A-PBX1),ETV6-RUNX1(TEL-AML1),MLPA法检测IKZF1缺失突变。结果 B-ALL 48例,T-ALL 2例。染色体核型正常38例,无核分裂相2例,异常10例。融合基因阳性15例:ETV6-RUNX15例,TCF3-PBX13例,BCR-ABL3例,MLL-AF4 2例,其它MLLr 2例。IKZF1缺失突变1例。死亡9例,其中无染色体核型及融合基因异常6例(B-ALL 4例,T-ALL 2例),染色体核型及融合基因异常2例[t (9; 22)(q34;q11)/BCR-ABL和t(4;11)(q21;q23)/MLL-AF4],染色体核型异常1例[46,XY,t(3;3)(q11;q28),del(4)(q21)]。结论白血病细胞免疫表型、染色体核型及融合基因检测对儿童ALL预后判断有重要意义。     

急性淋巴细胞性白血病患儿中枢神经系统白血病预防的研究进展

采用联合化疗以来,儿童急性淋巴细胞性白血病（ALL）的预后大为改观。上世纪60年代的研究证实,约65％的白血病患儿在缓解期出现中枢神经系统（CNS）白血病,从而导致全身复发。所以,儿童ALL治疗成功与CNS的预防性治疗密切相关,进行CNS治疗的患儿有较高的无事件生存（EFS）及长期生存率。CNS预防性治疗最初使用的颅脑放射治疗,剂量是24Gy,同时加短期的鞘内注射。然而,生存者的长期随访发现,该治疗有严重的毒性反应,如：生长迟缓及内分泌紊乱、神经心理方面的问题等;继发性颅脑肿瘤的风险明显增加。由于颅脑放疗引起的晚期毒性反应逐渐被认识,随后发展为逐渐减少放疗剂量和（或）使用全身（或鞘内）化疗取代放疗。新的治疗包括延长鞘注的疗程、采用中～大剂量甲氨蝶呤（MTX）持续静脉输注以及在应用泼尼松的基础上使用地塞米松。任何形式的CNS治疗都可以引起急性的或晚期的毒性反应。后来对病情评估越来越详细,如：初诊时根据CNS情况、病情危险度分组等进行不同方法CNS预防治疗,这些临床研究的目的是为了减少治疗产生的毒性反应的风险,改善治疗效果。     

急性淋巴细胞白血病继发粒细胞肉瘤一例

患儿男,12岁.因“急性淋巴细胞白血病6年半,停药2年5个月,发现左侧睾丸肿大1d”于2003年7月入院.患儿6年半前(1997年1月27日)在我院因“间断发热10d,发现面色苍白皮肤出血点3d”入院,血常规示外周血幼稚细胞0.55,骨髓原始淋巴细胞 幼稚淋巴细胞0.945,糖原染色(PAS)0.1,过氧化物酶染色(POX)(-),单抗CD5( )、CD7( )、CD34( )、CD38( )、CD13(-)、CD33(-),确诊为急性淋巴细胞白血病(ALL)T细胞表型.     

急性淋巴细胞白血病儿童染色体核型分析

目的 研究儿童急性淋巴细胞白血病(ALL)染色体变化的意义.方法 ALL患儿67例均于治疗前抽取骨髓标本1～2 mL,进行染色体核型检查,经短期培养法,收获有丝分裂期细胞,常规制片,应用G带技术进行染色体显带,分析20～30个中期细胞,根据人类染色体国际命名法描述核型.结果 1.初诊.ALL患儿67例中,克隆性核型异常37例,其中结构异常核型18例,数目异常核型16例,同时有数目和结构异常核型3例.2.t(9;22)易位的发生率为4%,且有1例t(9;22)易位中伴附加异常患儿死亡,说明t(9;22)易位核型也是小儿ALL预后不良的标志.3.t(12;21)易位是儿童ALL最常见的染色体异常,其预后良好,本组3例全部缓解.4.超二倍体和多倍体核型是预后良好的标志,而具有其他数目和结构异常核型的白血病,则预后不良.5.染色体核型正常组3例未能缓解,可能与染色体核型中微小片段改变而肉眼无法分析、临床治疗方案和病例的选择有关.结论 染色体核型分析对小儿ALL的指导治疗及预后判断具有重要作用,高二倍体核型和t(12;21)易位的ALL预后良好;而其他数目异常,t(9;22)易位和结构异常核型的ALL预后不良.     

长期无病生存急性淋巴细胞性白血病患儿主观生活质量研究

目前急性淋巴细胞性白血病（ALL）患儿5年无病生存率已达80％左右,治疗后长期无病生存的ALL患儿逐渐增多。本研究对长期无病生存ALL患儿的主观生活质量进行了评估,了解其存在的问题,以期早期予以干预调整。[第一段]     

急性淋巴细胞性白血病乳腺复发一例

患儿女 ,1 4岁。因面色苍白 2周 ,鼻衄 4ｄ ,发热 1ｄ为主诉入院。体检 :肝、淋巴结不大 ,脾肋下 4ｃｍ。实验室检查 :血常规 :ＷＢＣ 343× 1 0 9/Ｌ ,Ｈｂ 75ｇ/Ｌ ,ＰＬＴ 2 8× 1 0 9/Ｌ ,骨髓穿刺检查示 :原始淋巴细胞 +幼稚淋巴细胞为 85 % ,Ｌ2 型 ;免疫分型和染色体未做 ;Ｘ线胸片示纵隔无肿大 ,诊断为“急性淋巴细胞性白血病 (ＡＬＬ)极高危型”。诱导化疗 1个月时骨髓缓解 ,继续大剂量化疗共 1年 9个月。 4年后发现右乳腺外上象限有一肿块 ,伴右腋下淋巴结肿大 ,行肿瘤切除术。术后病理 :右乳腺小细胞恶性肿瘤 ,为ＡＬＬＢ细胞型 …     

t(15;17)小儿急性淋巴细胞白血病一例

患儿女 ,3岁。入院前 3个月无明原因前额出现一黄豆大小的包块 ,突出表皮 ,表面青紫 ,质硬 ,无压痛。在当地医院行包块切除术 ,在我院病理科诊断为急性淋巴细胞白血病 ,淋巴母细胞性淋巴瘤侵犯入我院。体检 :前额有一约 2ｃｍ长的瘢痕 ,双腹股沟可触及数个黄豆大小的淋巴结 ,肝右肋缘下 3ｃｍ ,质中 ,脾左肋缘下 1ｃｍ ,质中。双膝关节压痛。血常规 :ＷＢＣ 8 9× 10 9/Ｌ ,淋巴细胞 0 73,幼稚细胞 0 12 ,原始粒细胞 0 0 4,中性分叶核细胞 0 0 5 ,中性杆状核细胞 0 0 1,成熟单核细胞 0 0 3,中幼红细胞 0 0 2 ,网织红细胞 0 0 0 2 ;…     

急性淋巴细胞白血病患儿侵袭性真菌感染及右肾消失1例

病案报道：急性淋巴细胞白血病患儿侵袭性真菌感染并肾消化道瘘1例     

先天性急性淋巴细胞性白血病一例

患儿男,18h,因“窒息复苏后呼吸急促2+h”由外院转入。系第1胎第1产,39+2周顺产,出生体重3800g,羊水Ⅲ°,Apgar评分7分。其父30岁,母25岁,均从事理发职业,母否认孕期感染性疾病病史。查体:T36℃,P138次/min,R54次/min,一般情况差,面色稍苍白,易激惹,全身散在大小不等的紫红色出血性皮疹,以头皮、腹股沟、会阴部及腰背部密集,右侧颜面、右耳前及眼外侧各见大小约0.5cm×0.5cm的紫红色结节5个,质硬,     

Hypereosinophilic syndrome in acute lymphoblastic leukemia with a chromosome translocation [t(5q;14q)]

We report a case of hypereosinophilic syndrome associated with acute lymphoblastic leukemia (L1 type, FAB classification) which showed an abnormal karyotype. An 8-year-old boy was admitted to our hospital with complaints of fever and cough that had persisted for 2 weeks. Peripheral blood examination revealed remarkable eosinophilia (120,000/mm3) and a few lymphoblasts. Bone marrow examination also revealed many mature eosinophils and 20% lymphoblasts that were PAS and peroxidase negative. A direct chromosome analysis of the bone marrow cells demonstrated that 12.5% of the spontaneously dividing cells had an abnormal karyotype of 46XY, t(5;14) (q31;q32). The chest radiogram showed interstitial pneumonia-like densities, and the ECG had the pattern of a right bundle branch block. The therapy consisted of prednisolone, high dose of methylprednisolone, cyclophosphamide, and vincristine. This treatment failed to reduce the eosinophil count. On the 4th day after admission, the patient developed severe dyspnea, complete A-V block, and died. At postmortem, dense infiltrations of eosinophils in various stages of maturation were noted in lungs and liver.     

Philadelphia chromosome-negative chronic myelogenous leukemia in a child with t(8;9)(p11 or 12;q34)

Approximately 78% of chronic myelogenous leukemia patients have the standard Ph' chromosome-negative defect as their only chromosomal abnormality. CML has been extensively studied due to the availability of tumor tissue and the frequency and consistency with which such abnormalities are noted. There have been few cases reported, however, of Ph' chromosome-negative CML with an abnormality involving rearrangement and breaks at the 9q34 band. We report here a unique case of the fourth Ph'-negative patient who demonstrates this break.     

Lineage switch and translocation t(9;11) in acute leukemia

A boy with acute lymphoblastic leukemia (ALL) who underwent lineage switch at relapse is reported. The second leukemia was myeloid in nature (acute myeloid leukemia, AML), characterized by predominantly My 9 positive blasts at first and at second relapse. Cytogenetic studies at second relapse revealed the translocation (9;11) (p21;q23) in all examined blasts. This is typical for myelomonocytic leukemia. The nature of the relapse and the occurrence of t(9;11) translocations in acute leukemia are discussed.     

A translocation t(5;15)(q15;q11-13) infant case with acute lymphoblastic leukemia and literature review: prognosis implications

Infant acute lymphoblastic leukemia (ALL) represents poor prognosis despite intensive chemotherapy. Rearrangements of chromosome 11q23 are not observed in 34% of the cases. Infant ALL patients with t(5;15)(p15;q11-13) are rare and sporadic. In large series of infant ALL studies, 6 patients have been reported. We present a new case of an infant ALL patient with t(5;15)(p15;q11-13), and a literature review. Considering the data provided by our case and previous reports, we reinforce that this chromosomal abnormality is characteristic of ALL patients under 12 months of age sharing break point in 5p15 and 15q11-13 and strengthen the existence of an infant ALL subgroup characterized by pre-B L1 ALL, CD10-positive, complete remission (100%), and event-free survival (71%), with a relatively good prognosis and clearly less severe than the 11q23 rearrangement cases. This abnormality can be considered a recurrent abnormality on this nosologic group.     

Occurrence of t(8;22)(q24.1;q11.2) involving the MYC locus in a case of pediatric acute lymphoblastic leukemia with a precursor B cell immunophenotype

The authors describe a child with clinical presentation of acute leukemia and an immunophenotype consistent with precursor B-cell acute lymphoblastic leukemia. However, the lymphoblasts had atypical L3 features and the chromosome rearrangement t(8;22)(q24.1;q11.2) involving the MYC locus. The cytogenetic features in this patient were characteristic of mature B/Burkitt leukemia and led to modulation of therapy. This case highlights the need for timely cytogenetic and molecular studies in the diagnosis of acute leukemia.     

Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)

We report on a 21 month old boy with congenital anomalies and a trisomy of the short arm of chromosome 4 as result of a maternal translocation 4/8 with meiotic 3:1 segregation. Karyotype/phenotype correlation is compared with other reported cases and discussed in a context of nearly pure trisomy 4p.