Molecular genetics of B-precursor acute lymphoblastic leukemia

被引:187
作者
Mullighan, Charles G. [1 ]
机构
[1] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA
关键词
OF-FUNCTION MUTATIONS; ABL TYROSINE KINASE; BCR-ABL; CHROMOSOMAL TRANSLOCATIONS; PHILADELPHIA-CHROMOSOME; MYELOID-LEUKEMIA; INTRACHROMOSOMAL AMPLIFICATION; CLINICAL-FEATURES; CELL DEVELOPMENT; CLONAL ORIGINS;
D O I
10.1172/JCI61203
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
B-precursor acute lymphoblastic leukemia (B-ALL) is the most common childhood tumor and the leading cause of cancer-related death in children and young adults. The majority of B-ALL cases are aneuploid or harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of disease. Recent studies have used microarrays and sequencing to comprehensively identify all somatic genetic alterations in acute lymphoblastic leukemia (ALL). These studies have identified cryptic or submicroscopic genetic alterations that define new ALL subtypes, cooperate with known chromosomal rearrangements, and influence prognosis. This article reviews these advances, discusses results from ongoing second-generation sequencing studies of ALL, and highlights challenges and opportunities for future genetic profiling approaches.
引用
收藏
页码:3407 / 3415
页数:9
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