多重连接依赖探针扩增
细胞遗传学
计算生物学
医学
肿瘤科
生物信息学
生物
染色体
遗传学
基因
外显子
作者
Giulia Tueur,Julie Quessada,Jolien De Bie,Wendy Cuccuini,S. Toujani,Christine Lefebvre,Isabelle Luquet,Lucienne Michaux,Marina Lafage‐Pochitaloff
标识
DOI:10.1016/j.retram.2023.103434
摘要
Cytogenetic analysis is mandatory at initial assessment of B-cell acute lymphoblastic leukemia (B-ALL) due to its diagnostic and prognostic value. Results from chromosome banding analysis and complementary FISH are taken into account in therapeutic protocols and further completed by other techniques (RT-PCR, SNP-array, MLPA, NGS, OGM). Indeed, new genomic entities have been identified by NGS, mostly RNA sequencing, such as Ph-like ALL that can benefit from targeted therapy Here, we have attempted to establish cytogenetic guidelines by reviewing the most recent published data including the novel 5th World Health Organization and International Consensus Classifications. We also focused on newly described cytogenomic entities and indicate alternative diagnostic tools such as NGS technology, as its importance is vastly increasing in the diagnostic setting.
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