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A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome.
Molecular Cytogenetics ( IF 1.3 ) Pub Date : 2020-09-11 , DOI: 10.1186/s13039-020-00512-3
Abdulsamad Wafa 1 , Rami A Jarjour 1 , Doaa Alolabi 2 , Thomas Liehr 3 , Othman Hamdan 2 , Joana B Melo 4, 5 , Isabel M Carreira 4, 5 , Moneeb A K Othman 3 , Walid Al-Achkar 1
Affiliation  

B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL cases harbor recurrent abnormalities, including so-called complex karyotypes (CK). Tumor lysis syndrome (TLS) is a metabolic abnormality which may arise during cancer therapy and also, extremely rarely, as spontaneous TLS before initiation of chemotherapy in patients with ALL. Here we report a 9-year-old male, diagnosed with a de novo pre-B-ALL according to the WHO classification. Cytogenetic, molecular cytogenetic approaches and array comparative genomic hybridization analyses revealed a unique CK involving five chromosomes. It included four yet unreported chromosomal aberrations: a der(11)t(7;11)(p22.1;q24.2), a der(18)t(7;18)(q21.3;p11.22), del(11)(q24.2q25) and dup(18)(q11.1q23). Unfortunately, the patient died 3 months after the initial diagnosis. To the best of our knowledge, a comparable childhood ALL case was not previously reported. Thus, the combination of the here seen chromosomal aberrations in childhood primary ALL seems to indicate for an extremely adverse prognosis.

中文翻译:

一个新的儿童 ALL 病例,具有极其复杂的核型和急性自发肿瘤溶解综合征。

B细胞前体急性淋巴细胞白血病(B-ALL)是儿童期最常见的恶性肿瘤,经过相应治疗后,总体完全缓解率为90%。大约 75% 的 B-ALL 病例存在复发性异常,包括所谓的复杂核型 (CK)。肿瘤溶解综合征 (TLS) 是一种代谢异常,可能在癌症治疗期间出现,也极少数情况下会在 ALL 患者开始化疗前出现自发性 TLS。在此,我们报告一名 9 岁男性,根据 WHO 分类,被诊断患有新发前 B-ALL。细胞遗传学、分子细胞遗传学方法和阵列比较基因组杂交分析揭示了涉及五个染色体的独特 CK。它包括四个尚未报告的染色体畸变:der(11)t(7;11)(p22.1;q24.2)、der(18)t(7;18)(q21.3;p11.22)、 del(11)(q24.2q25) 和 dup(18)(q11.1q23)。不幸的是,该患者在初次诊断后三个月就去世了。据我们所知,以前没有报道过类似的儿童 ALL 病例。因此,此处观察到的儿童原发性 ALL 中的染色体畸变组合似乎表明预后极其不良。
更新日期:2020-09-11
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