Becker Maximilian, Liu Kristie, Tirado Carlos A
Centro de Investigaciones Tecnológicas, Biomédicas y Medioambientales, Lima, Peru, Centro Nacional de Salud Publica, Instituto Nacional de Salud, Lima, Peru, and The International Circle of Genetics Studies, Los Angeles, CA.
The International Circle of Genetic Studies, Los Angeles, CA.
J Assoc Genet Technol. 2017;43(3):99-109.
Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is the most common hematological malignancy in children, and the t(12;21)(p13;q22) occurs in approximately 25% of these cases, making it is the most prevalent chromosomal abnormality. The t(12;21) which disrupts hematopoietic differentiation and proliferation, and can be present as a sole abnormality or within the context of a complex karyotype characterized by three or more chromosomal abnormalities. The prognosis of t(12;21) within a complex karyotype is extensively debated. In this review, we discuss the literature regarding t(12;21) and summarize the cytogenetic features found in 363 pediatric cases compiled from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. Cytogenetically, most of the cases had secondary chromosomal abnormalities, about half of which were in the context of a complex karyotype. Trisomy 21 was found to be the most common numerical abnormality in almost one-fifth of the cases, and deletions on chromosome 12 and 6 occurred in 16.9% and 12.5% of cases, respectively. In general, t(12;21) in B-ALL is associated with a favorable prognosis. Herein, we found no significant difference in survival outcome of t(12;21) with a on-complex or complex karyotype.
小儿B细胞急性淋巴细胞白血病（B-ALL）是儿童中最常见的血液系统恶性肿瘤，约25%的病例存在t(12;21)(p13;q22)，使其成为最常见的染色体异常。t(12;21)会破坏造血分化和增殖，可单独作为一种异常存在，也可出现在具有三个或更多染色体异常特征的复杂核型背景中。复杂核型中t(12;21)的预后存在广泛争议。在本综述中，我们讨论了关于t(12;21)的文献，并总结了从癌症染色体畸变和基因融合的米特尔曼数据库中收集的363例小儿病例中发现的细胞遗传学特征。细胞遗传学上，大多数病例有继发性染色体异常，其中约一半处于复杂核型背景中。21三体被发现是近五分之一病例中最常见的数目异常，12号和6号染色体缺失分别出现在16.9%和12.5%的病例中。一般来说，B-ALL中的t(12;21)与良好的预后相关。在此，我们发现t(12;21)伴有简单或复杂核型的生存结果无显著差异。
